{"BioData Catalyst":[{"open_access-1000Genomes":{"gen3_discovery":{"authz":"/programs/open_access/projects/1000Genomes","tags":[{"name":"Genotype","category":"Data Type"},{"name":"Clinical Phenotype","category":"Data Type"}],"_unique_id":"open_access-1000Genomes","study_id":"open_access-1000Genomes","study_description":"high_coverage_2019_Public","full_name":"","short_name":"","commons":"BioData Catalyst","study_url":"https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=..","_subjects_count":3202,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000007.v31.p12.c1":{"gen3_discovery":{"authz":null,"tags":null,"_unique_id":"phs000007.v31.p12.c1","study_id":"phs000007.v31.p12.c1","study_description":null,"full_name":null,"short_name":null,"commons":"BioData Catalyst","study_url":null,"_subjects_count":0,"__manifest":null,"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000007.v31.p12.c2":{"gen3_discovery":{"authz":null,"tags":null,"_unique_id":"phs000007.v31.p12.c2","study_id":"phs000007.v31.p12.c2","study_description":null,"full_name":null,"short_name":null,"commons":"BioData Catalyst","study_url":null,"_subjects_count":0,"__manifest":null,"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000007.v34.p15.c1":{"gen3_discovery":{"authz":null,"tags":null,"_unique_id":"phs000007.v34.p15.c1","study_id":"phs000007.v34.p15.c1","study_description":null,"full_name":null,"short_name":null,"commons":"BioData Catalyst","study_url":null,"_subjects_count":0,"__manifest":null,"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000007.v34.p15.c2":{"gen3_discovery":{"authz":null,"tags":null,"_unique_id":"phs000007.v34.p15.c2","study_id":"phs000007.v34.p15.c2","study_description":null,"full_name":null,"short_name":null,"commons":"BioData Catalyst","study_url":null,"_subjects_count":0,"__manifest":null,"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000007.v35.p16.c1":{"gen3_discovery":{"authz":"/programs/parent/projects/FHS_HMB-IRB-MDS_","tags":[],"_unique_id":"phs000007.v35.p16.c1","study_id":"phs000007.v35.p16.c1","study_description":"See Grouping of Framingham Phenotype Datasets Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the Framingham Heart Study (FHS) -- under the direction of the National Heart Institute (now known as the National Heart, Lung, and Blood Institute, NHLBI) -- embarked on a novel and ambitious project in health research. At the time, little was known about the general causes of heart disease and stroke, but the death rates for CVD had been increasing steadily since the beginning of the century and had become an American epidemic. The objective of the FHS was to identify the common factors or characteristics that contribute to CVD by following its development over a long period of time in a large group of participants who had not yet developed overt symptoms of CVD or suffered a heart attack or stroke. Design of Framingham Heart Study. In 1948, the researchers recruited 5,209 men and women between the ages of 30 and 62 from the town of Framingham, Massachusetts, and began the first round of extensive physical examinations and lifestyle interviews that they would later analyze for common patterns related to CVD development. Since 1948, the subjects have returned to the study every two years for an examination consisting of a detailed medical history, physical examination, and laboratory tests, and in 1971, the study enrolled a second-generation cohort -- 5,124 of the original participants' adult children and their spouses -- to participate in similar examinations. The second examination of the Offspring cohort occurred eight years after the first examination, and subsequent examinations have occurred approximately every four years thereafter. In April 2002 the Study entered a new phase: the enrollment of a third generation of participants, the grandchildren of the original cohort. The first examination of the Third Generation Study was completed in July 2005 and involved 4,095 participants. Thus, the FHS has evolved into a prospective, community-based, three generation family study. The FHS is a joint project of the National Heart, Lung and Blood Institute and Boston University. Research Areas in the Framingham Heart Study. Over the years, careful monitoring of the FHS population has led to the identification of the major CVD risk factors -- high blood pressure, high blood cholesterol, smoking, obesity, diabetes, and physical inactivity -- as well as a great deal of valuable information on the effects of related factors such as blood triglyceride and HDL cholesterol levels, age, gender, and psychosocial issues. Risk factors have been identified for the major components of CVD, including coronary heart disease, stroke, intermittent claudication, and heart failure. It is also clear from research in the FHS and other studies that substantial subclinical vascular disease occurs in the blood vessels, heart and brain that precedes clinical CVD. With recent advances in technology, the FHS has enhanced its research capabilities and capitalized on its inherent resources by the conduct of high resolution imaging to detect and quantify subclinical vascular disease in the major blood vessels, heart and brain. These studies have included ultrasound studies of the heart (echocardiography) and carotid arteries, computed tomography studies of the heart and aorta, and magnetic resonance imaging studies of the brain, heart, and aorta. Although the Framingham cohort is primarily white, the importance of the major CVD risk factors identified in this group have been shown in other studies to apply almost universally among racial and ethnic groups, even though the patterns of distribution may vary from group to group. In the past half century, the Study has produced approximately 1,200 articles in leading medical journals. The concept of CVD risk factors has become an integral part of the modern medical curriculum and has led to the development of effective treatment and preventive strategies in clinical practice. In addition to research studies focused on risk factors, subclinical CVD and clinically apparent CVD, Framingham investigators have also collaborated with leading researchers from around the country and throughout the world on projects involving some of the major chronic illnesses in men and women, including dementia, osteoporosis and arthritis, nutritional deficiencies, eye diseases, hearing disorders, and chronic obstructive lung diseases. Genetic Research in the Framingham Heart Study. While pursuing the Study's established research goals, the NHLBI and the Framingham investigators has expanded its research mission into the study of genetic factors underlying CVD and other disorders. Over the past two decades, DNA has been collected from blood samples and from immortalized cell lines obtained from Original Cohort participants, members of the Offspring Cohort and the Third Generation Cohort. Several large-scale genotyping projects have been conducted in the past decade. Genome-wide linkage analysis has been conducted using genotypes of approximately 400 microsatellite markers that have been completed in over 9,300 subjects in all three generations. Analyses using microsatellite markers completed in the original cohort and offspring cohorts have resulted in over 100 publications, including many publications from the Genetics Analysis Workshop 13. Several other recent collaborative projects have completed thousands of SNP genotypes for candidate gene regions in subsets of FHS subjects with available DNA. These projects include the Cardiogenomics Program of the NHLBI's Programs for Genomics Applications, the genotyping of ~3000 SNPs in inflammation genes, and the completion of a genome-wide scan of 100,000 SNPs using the Affymetrix 100K Genechip. Framingham Cohort Phenotype Data. The phenotype database contains a vast array of phenotype information available in all three generations. These will include the quantitative measures of the major risk factors such as systolic blood pressure, total and HDL cholesterol, fasting glucose, and cigarette use, as well as anthropomorphic measures such as body mass index, biomarkers such as fibrinogen and CRP, and electrocardiography measures such as the QT interval. Many of these measures have been collected repeatedly in the original and offspring cohorts. Also included in the SHARe database will be an array of recently collected biomarkers, subclinical disease imaging measures, clinical CVD outcomes as well as an array of ancillary studies. The phenotype data is located here in the top-level study phs000007 Framingham Cohort. To view the phenotype variables collected from the Framingham Cohort, please click on the \"Variables\" tab above.  The Framingham Cohort is utilized in the following dbGaP substudies. To view genotypes, analysis, expression data, other molecular data, and derived variables collected in these substudies, please click on the following substudies below or in the \"Substudies\" section of this top-level study page phs000007 Framingham Cohort.  phs000342 Framingham SHARe phs000282 Framingham CARe phs000363 Framingham SABRe phs000307 Framingham Medical Resequencing phs000401 Framingham ESP Heart-GO phs000651 Framingham CHARGE-S phs000724 Framingham DNA Methylation phs001610 Framingham T2D-GENES phs002558 Framingham ADSP phs002559 Framingham BRIDGET phs002560 Framingham Cholesterol phs002611 Framingham Post-Mortem Brain Tissue phs002938 Framingham Molecular QTL  The unflagging commitment of the research participants in the NHLBI FHS has made more than a half century of research success possible. For decades, the FHS has made its data and DNA widely available to qualified investigators throughout the world through the Limited Access Datasets and the FHS DNA Committee, and the SHARe database will continue that tradition by allowing access to qualified investigators who agree to the requirements of data access. With the SHARe database, we continue with an ambitious research agenda and look forward to new discoveries in the decades to come.   Study Weblinks:   The Framingham Heart Study NHLBI Framingham Heart Study    Study Design:       Prospective Longitudinal Cohort    Study Type:  Longitudinal        Total number of consented subjects: 15089      Subject Sample Telemetry Report (SSTR)   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"Framingham Cohort","short_name":"FHS_HMB-IRB-MDS_","commons":"BioData Catalyst","study_url":"","_subjects_count":13139,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000007.v35.p16.c2":{"gen3_discovery":{"authz":"/programs/parent/projects/FHS_HMB-IRB-NPU-MDS_","tags":[],"_unique_id":"phs000007.v35.p16.c2","study_id":"phs000007.v35.p16.c2","study_description":"See Grouping of Framingham Phenotype Datasets Startup of Framingham Heart Study. Cardiovascular disease (CVD) is the leading cause of death and serious illness in the United States. In 1948, the Framingham Heart Study (FHS) -- under the direction of the National Heart Institute (now known as the National Heart, Lung, and Blood Institute, NHLBI) -- embarked on a novel and ambitious project in health research. At the time, little was known about the general causes of heart disease and stroke, but the death rates for CVD had been increasing steadily since the beginning of the century and had become an American epidemic. The objective of the FHS was to identify the common factors or characteristics that contribute to CVD by following its development over a long period of time in a large group of participants who had not yet developed overt symptoms of CVD or suffered a heart attack or stroke. Design of Framingham Heart Study. In 1948, the researchers recruited 5,209 men and women between the ages of 30 and 62 from the town of Framingham, Massachusetts, and began the first round of extensive physical examinations and lifestyle interviews that they would later analyze for common patterns related to CVD development. Since 1948, the subjects have returned to the study every two years for an examination consisting of a detailed medical history, physical examination, and laboratory tests, and in 1971, the study enrolled a second-generation cohort -- 5,124 of the original participants' adult children and their spouses -- to participate in similar examinations. The second examination of the Offspring cohort occurred eight years after the first examination, and subsequent examinations have occurred approximately every four years thereafter. In April 2002 the Study entered a new phase: the enrollment of a third generation of participants, the grandchildren of the original cohort. The first examination of the Third Generation Study was completed in July 2005 and involved 4,095 participants. Thus, the FHS has evolved into a prospective, community-based, three generation family study. The FHS is a joint project of the National Heart, Lung and Blood Institute and Boston University. Research Areas in the Framingham Heart Study. Over the years, careful monitoring of the FHS population has led to the identification of the major CVD risk factors -- high blood pressure, high blood cholesterol, smoking, obesity, diabetes, and physical inactivity -- as well as a great deal of valuable information on the effects of related factors such as blood triglyceride and HDL cholesterol levels, age, gender, and psychosocial issues. Risk factors have been identified for the major components of CVD, including coronary heart disease, stroke, intermittent claudication, and heart failure. It is also clear from research in the FHS and other studies that substantial subclinical vascular disease occurs in the blood vessels, heart and brain that precedes clinical CVD. With recent advances in technology, the FHS has enhanced its research capabilities and capitalized on its inherent resources by the conduct of high resolution imaging to detect and quantify subclinical vascular disease in the major blood vessels, heart and brain. These studies have included ultrasound studies of the heart (echocardiography) and carotid arteries, computed tomography studies of the heart and aorta, and magnetic resonance imaging studies of the brain, heart, and aorta. Although the Framingham cohort is primarily white, the importance of the major CVD risk factors identified in this group have been shown in other studies to apply almost universally among racial and ethnic groups, even though the patterns of distribution may vary from group to group. In the past half century, the Study has produced approximately 1,200 articles in leading medical journals. The concept of CVD risk factors has become an integral part of the modern medical curriculum and has led to the development of effective treatment and preventive strategies in clinical practice. In addition to research studies focused on risk factors, subclinical CVD and clinically apparent CVD, Framingham investigators have also collaborated with leading researchers from around the country and throughout the world on projects involving some of the major chronic illnesses in men and women, including dementia, osteoporosis and arthritis, nutritional deficiencies, eye diseases, hearing disorders, and chronic obstructive lung diseases. Genetic Research in the Framingham Heart Study. While pursuing the Study's established research goals, the NHLBI and the Framingham investigators has expanded its research mission into the study of genetic factors underlying CVD and other disorders. Over the past two decades, DNA has been collected from blood samples and from immortalized cell lines obtained from Original Cohort participants, members of the Offspring Cohort and the Third Generation Cohort. Several large-scale genotyping projects have been conducted in the past decade. Genome-wide linkage analysis has been conducted using genotypes of approximately 400 microsatellite markers that have been completed in over 9,300 subjects in all three generations. Analyses using microsatellite markers completed in the original cohort and offspring cohorts have resulted in over 100 publications, including many publications from the Genetics Analysis Workshop 13. Several other recent collaborative projects have completed thousands of SNP genotypes for candidate gene regions in subsets of FHS subjects with available DNA. These projects include the Cardiogenomics Program of the NHLBI's Programs for Genomics Applications, the genotyping of ~3000 SNPs in inflammation genes, and the completion of a genome-wide scan of 100,000 SNPs using the Affymetrix 100K Genechip. Framingham Cohort Phenotype Data. The phenotype database contains a vast array of phenotype information available in all three generations. These will include the quantitative measures of the major risk factors such as systolic blood pressure, total and HDL cholesterol, fasting glucose, and cigarette use, as well as anthropomorphic measures such as body mass index, biomarkers such as fibrinogen and CRP, and electrocardiography measures such as the QT interval. Many of these measures have been collected repeatedly in the original and offspring cohorts. Also included in the SHARe database will be an array of recently collected biomarkers, subclinical disease imaging measures, clinical CVD outcomes as well as an array of ancillary studies. The phenotype data is located here in the top-level study phs000007 Framingham Cohort. To view the phenotype variables collected from the Framingham Cohort, please click on the \"Variables\" tab above.  The Framingham Cohort is utilized in the following dbGaP substudies. To view genotypes, analysis, expression data, other molecular data, and derived variables collected in these substudies, please click on the following substudies below or in the \"Substudies\" section of this top-level study page phs000007 Framingham Cohort.  phs000342 Framingham SHARe phs000282 Framingham CARe phs000363 Framingham SABRe phs000307 Framingham Medical Resequencing phs000401 Framingham ESP Heart-GO phs000651 Framingham CHARGE-S phs000724 Framingham DNA Methylation phs001610 Framingham T2D-GENES phs002558 Framingham ADSP phs002559 Framingham BRIDGET phs002560 Framingham Cholesterol phs002611 Framingham Post-Mortem Brain Tissue phs002938 Framingham Molecular QTL  The unflagging commitment of the research participants in the NHLBI FHS has made more than a half century of research success possible. For decades, the FHS has made its data and DNA widely available to qualified investigators throughout the world through the Limited Access Datasets and the FHS DNA Committee, and the SHARe database will continue that tradition by allowing access to qualified investigators who agree to the requirements of data access. With the SHARe database, we continue with an ambitious research agenda and look forward to new discoveries in the decades to come.   Study Weblinks:   The Framingham Heart Study NHLBI Framingham Heart Study    Study Design:       Prospective Longitudinal Cohort    Study Type:  Longitudinal        Total number of consented subjects: 15089      Subject Sample Telemetry Report (SSTR)   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"Framingham Cohort","short_name":"FHS_HMB-IRB-NPU-MDS_","commons":"BioData Catalyst","study_url":"","_subjects_count":1926,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000166.v2.p1.c1":{"gen3_discovery":{"authz":"/programs/parent/projects/SHARP_ARR_","tags":[{"name":"Parent","category":"Program"},{"name":"Clinical Phenotype","category":"Data Type"},{"name":"dbGaP","category":"Study Registration"}],"_unique_id":"phs000166.v2.p1.c1","study_id":"phs000166.v2.p1.c1","study_description":"SNP Health Association Resource (SHARe) Asthma Resource project (SHARP) is conducting a genome-wide analysis in adults and children who have participated in National Heart, Lung, and Blood Institute's clinical research trials on asthma. This includes 1041 children with asthma who participated in the Childhood Asthma Management Program (CAMP), 994 children who participated in one or five clinical trials conducted by the Childhood Asthma Research and Education (CARE) network, and 701 adults who participated in one of six clinical trials conducted by the Asthma Clinical Research Network (ACRN). There are three study types. The longitudinal clinical trials can be subsetted for population-based and/or case-control analyses. Each of the childhood asthma studies has a majority of children participating as part of a parent-child trio. The ACRN (adult) studies are probands alone. Control genotypes will be provided for case-control analyses.   Study Weblinks:   CAMP CARE ACRN    Study Design:       Cross-Sectional    Study Type:  Longitudinal Parent-Offspring Trios Case-Control        Total number of consented subjects: 4046      Subject Sample Telemetry Report (SSTR)   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"National Heart, Lung, and Blood Institute SNP Health Association Asthma Resource Project (SHARP)","short_name":"SHARP_ARR_","commons":"BioData Catalyst","study_url":"https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000166.v2.p1","_subjects_count":4046,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000179.v6.p2.c1":{"gen3_discovery":{"authz":"/programs/parent/projects/COPDGene_HMB_","tags":[{"name":"Parent","category":"Program"},{"name":"DCC Harmonized","category":"Data Type"},{"name":"Clinical Phenotype","category":"Data Type"},{"name":"dbGaP","category":"Study Registration"}],"_unique_id":"phs000179.v6.p2.c1","study_id":"phs000179.v6.p2.c1","study_description":"Chronic obstructive pulmonary disease (COPD) is the fourth leading cause of death in the United States and the only leading cause of death that is steadily increasing in frequency. This project will establish a racially diverse cohort that is sufficiently large and appropriately designed for genome-wide association analysis of COPD. A total of 10,000 subjects will be recruited, including control smokers, definite COPD cases (GOLD Stage 2 to 4), and subjects not included in either group (GOLD 1 or GOLD-Unclassified). This cohort will be used for cross-sectional analysis, although long-term longitudinal follow-up will be a future goal. The primary focus of the study will be genome-wide association analysis to identify the genetic risk factors that determine susceptibility for COPD and COPD-related phenotypes. Detailed phenotyping of both cases and controls, including chest CT scan assessment of emphysema and airway disease, will allow identification of genetic determinants for the heterogeneous components of the COPD syndrome. The hypotheses to be studied are: 1) Precise phenotypic characterization of COPD subjects using computed tomography, as well as clinical and physiological measures, will provide data that will enable the broad COPD syndrome to be decomposed into clinically significant subtypes. 2) Genome-wide association studies will identify genetic determinants for COPD susceptibility that will provide insight into clinically relevant COPD subtypes. 3) Distinct genetic determinants influence the development of emphysema and airway disease. The initial phase of genome-wide association analysis included 500 COPD cases and 500 control subjects (all non-Hispanic White) genotyped with the Illumina Omni-1 chip. The second phase genotyped the entire study cohort using the Illumina Omni-Express chip. Unique aspects of the study include: 1) Inclusion of large numbers of African American subjects (approximately 1/3 of the cohort); 2) Obtaining chest CT scans (including inspiratory and expiratory images); and 3) Inclusion of the full range of disease severity. The COPDGene_v6 Cohort is utilized in the following dbGaP sub-studies. To view genotypes, other molecular data, and derived variables collected in these sub-studies, please click on the following sub-studies below or in the \"Sub-studies\" section of this top-level study page phs000179 COPDGene_v6 Cohort.  phs000296 ESP LungGO COPDGene phs000765 COPDGene_Geno     Study Weblinks:   COPDGene    Study Design:       Case-Control    Study Type:  Case-Control     dbGaP estimated ancestry using  GRAF-pop       Total number of consented subjects: 10371      Subject Sample Telemetry Report (SSTR)   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"Genetic Epidemiology of COPD (COPDGene) Funded by the National Heart, Lung, and Blood Institute","short_name":"COPDGene_HMB_","commons":"BioData Catalyst","study_url":"https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000179.v6.p2","_subjects_count":10099,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000179.v6.p2.c2":{"gen3_discovery":{"authz":"/programs/parent/projects/COPDGene_DS-CS_","tags":[{"name":"Parent","category":"Program"},{"name":"DCC Harmonized","category":"Data Type"},{"name":"Clinical Phenotype","category":"Data Type"},{"name":"dbGaP","category":"Study Registration"}],"_unique_id":"phs000179.v6.p2.c2","study_id":"phs000179.v6.p2.c2","study_description":"Chronic obstructive pulmonary disease (COPD) is the fourth leading cause of death in the United States and the only leading cause of death that is steadily increasing in frequency. This project will establish a racially diverse cohort that is sufficiently large and appropriately designed for genome-wide association analysis of COPD. A total of 10,000 subjects will be recruited, including control smokers, definite COPD cases (GOLD Stage 2 to 4), and subjects not included in either group (GOLD 1 or GOLD-Unclassified). This cohort will be used for cross-sectional analysis, although long-term longitudinal follow-up will be a future goal. The primary focus of the study will be genome-wide association analysis to identify the genetic risk factors that determine susceptibility for COPD and COPD-related phenotypes. Detailed phenotyping of both cases and controls, including chest CT scan assessment of emphysema and airway disease, will allow identification of genetic determinants for the heterogeneous components of the COPD syndrome. The hypotheses to be studied are: 1) Precise phenotypic characterization of COPD subjects using computed tomography, as well as clinical and physiological measures, will provide data that will enable the broad COPD syndrome to be decomposed into clinically significant subtypes. 2) Genome-wide association studies will identify genetic determinants for COPD susceptibility that will provide insight into clinically relevant COPD subtypes. 3) Distinct genetic determinants influence the development of emphysema and airway disease. The initial phase of genome-wide association analysis included 500 COPD cases and 500 control subjects (all non-Hispanic White) genotyped with the Illumina Omni-1 chip. The second phase genotyped the entire study cohort using the Illumina Omni-Express chip. Unique aspects of the study include: 1) Inclusion of large numbers of African American subjects (approximately 1/3 of the cohort); 2) Obtaining chest CT scans (including inspiratory and expiratory images); and 3) Inclusion of the full range of disease severity. The COPDGene_v6 Cohort is utilized in the following dbGaP sub-studies. To view genotypes, other molecular data, and derived variables collected in these sub-studies, please click on the following sub-studies below or in the \"Sub-studies\" section of this top-level study page phs000179 COPDGene_v6 Cohort.  phs000296 ESP LungGO COPDGene phs000765 COPDGene_Geno     Study Weblinks:   COPDGene    Study Design:       Case-Control    Study Type:  Case-Control     dbGaP estimated ancestry using  GRAF-pop       Total number of consented subjects: 10371      Subject Sample Telemetry Report (SSTR)   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"Genetic Epidemiology of COPD (COPDGene) Funded by the National Heart, Lung, and Blood Institute","short_name":"COPDGene_DS-CS_","commons":"BioData Catalyst","study_url":"https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000179.v6.p2","_subjects_count":272,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000200.v12.p3.c1":{"gen3_discovery":{"authz":"/programs/parent/projects/WHI_HMB-IRB_","tags":[{"name":"Parent","category":"Program"},{"name":"DCC Harmonized","category":"Data Type"},{"name":"Clinical Phenotype","category":"Data Type"},{"name":"dbGaP","category":"Study Registration"}],"_unique_id":"phs000200.v12.p3.c1","study_id":"phs000200.v12.p3.c1","study_description":"The Women's Health Initiative (WHI) is a long-term national health study that has focused on strategies for preventing heart disease, breast and colorectal cancer, and osteoporotic fractures in postmenopausal women. The original WHI study included 161,808 postmenopausal women enrolled between 1993 and 1998. The Fred Hutchinson Cancer Research Center in Seattle, WA serves as the WHI Clinical Coordinating Center for data collection, management, and analysis of the WHI. The WHI has two major parts: a partial factorial randomized Clinical Trial (CT) and an Observational Study (OS); both were conducted at 40 Clinical Centers nationwide. The CT enrolled 68,132 postmenopausal women between the ages of 50-79 into trials testing three prevention strategies. If eligible, women could choose to enroll in one, two, or all three of the trial components. The components are:  Hormone Therapy Trials (HT): This double-blind component examined the effects of combined hormones or estrogen alone on the prevention of coronary heart disease and osteoporotic fractures, and associated risk for breast cancer. Women participating in this component with an intact uterus were randomized to estrogen plus progestin (conjugated equine estrogens [CEE], 0.625 mg/d plus medroxyprogesterone acetate [MPA] 2.5 mg/d] or a matching placebo. Women with prior hysterectomy were randomized to CEE or placebo. Both trials were stopped early, in July 2002 and March 2004, respectively, based on adverse effects. All HT participants continued to be followed without intervention until close-out. Dietary Modification Trial (DM): The Dietary Modification component evaluated the effect of a low-fat and high fruit, vegetable and grain diet on the prevention of breast and colorectal cancers and coronary heart disease. Study participants were randomized to either their usual eating pattern or a low-fat dietary pattern. Calcium/Vitamin D Trial (CaD): This double-blind component began 1 to 2 years after a woman joined one or both of the other clinical trial components. It evaluated the effect of calcium and vitamin D supplementation on the prevention of osteoporotic fractures and colorectal cancer. Women in this component were randomized to calcium (1000 mg/d) and vitamin D (400 IU/d) supplements or a matching placebo.   The Observational Study (OS) examines the relationship between lifestyle, environmental, medical and molecular risk factors and specific measures of health or disease outcomes. This component involves tracking the medical history and health habits of 93,676 women not participating in the CT. Recruitment for the observational study was completed in 1998 and participants were followed annually for 8 to 12 years. Extension Studies: The original protocol allowed for follow-up until March 2005, after which participants were invited to enroll in the first WHI Extension Study for follow-up through 2010. Participants were invited again to participate in the second WHI Extension Study with continued follow up from 2010 to at least 2015. As of March 31, 2011 there were 93,122 women enrolled in the second extension. In Extension Study 2, the overall WHI study population was divided into two new subsamples, the Medical Records Cohort (MRC) and the Self-Report Cohort (SRC). The MRC consists of all former hormone trial participants and all African American and Hispanic participants from all study components. The SRC consists of the remaining participants. The extent of outcome information collected differs between the two cohorts, with more extensive outcomes information collection on the MRC. As part of Extension Study 2, selected older WHI participants were invited to participate in an In Person Visit (a.k.a., Long Life Study) at their homes during which additional blood samples were collected and various measurements were taken (such as blood pressure, height, weight, waist circumference, grip strength, etc.). In October 2015, Extension Study 2 was renewed with continued follow-up planned through October 2020, pending annual contract review and renewal. Additional Information: The WHI website, https://www.whi.org/about/SitePages/About%20WHI.aspx has much more information about the study. For WHI data collection forms used over the years, please see https://www.whi.org/researchers/studydoc/SitePages/Forms.aspx. For additional dataset documentation, see https://www.whi.org/researchers/data/Pages/Available%20Data.aspx. For data preparation and use, please refer to 'WHI dbGaP Cohort Data Release Data Preparation Guide May 2018' for additional details about the WHI data. The WHI Cohort is utilized in the following dbGaP substudies. To view genotypes, analysis, expression data, other molecular data, and derived variables collected in these substudies, please click on the following substudies below or in the \"Substudies\" section of this top-level study page phs000200 WHI Cohort.  phs000386 WHI SHARe phs000281 GO-ESP WHISP phs000315 WHI GARNET phs000503 WHISE phs000227 PAGE WHI phs000675 WHIMS+ phs000746 WHI Harmonized and Imputed GWAS phs001334 WHI Metabolomics of CHD phs001335 WHI BA23 phs001614 WHI LLS Phase III GWAS     Study Weblinks:   Scientific Resources Website: Women's Health Initiative NHLBI Women's Health Initiative    Study Design:       Prospective Longitudinal Cohort    Study Type:  Partial Factorial Randomized Double-Blind Placebo-Controlled Cohort Longitudinal     dbGaP estimated ancestry using  GRAF-pop       Total number of consented subjects: 143213      Subject Sample Telemetry Report (SSTR)   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"Women's Health Initiative Clinical Trial and Observational Study","short_name":"WHI_HMB-IRB_","commons":"BioData Catalyst","study_url":"https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000200.v12.p3","_subjects_count":117675,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000200.v12.p3.c2":{"gen3_discovery":{"authz":"/programs/parent/projects/WHI_HMB-IRB-NPU_","tags":[{"name":"Parent","category":"Program"},{"name":"DCC Harmonized","category":"Data Type"},{"name":"Clinical Phenotype","category":"Data Type"},{"name":"dbGaP","category":"Study Registration"}],"_unique_id":"phs000200.v12.p3.c2","study_id":"phs000200.v12.p3.c2","study_description":"The Women's Health Initiative (WHI) is a long-term national health study that has focused on strategies for preventing heart disease, breast and colorectal cancer, and osteoporotic fractures in postmenopausal women. The original WHI study included 161,808 postmenopausal women enrolled between 1993 and 1998. The Fred Hutchinson Cancer Research Center in Seattle, WA serves as the WHI Clinical Coordinating Center for data collection, management, and analysis of the WHI. The WHI has two major parts: a partial factorial randomized Clinical Trial (CT) and an Observational Study (OS); both were conducted at 40 Clinical Centers nationwide. The CT enrolled 68,132 postmenopausal women between the ages of 50-79 into trials testing three prevention strategies. If eligible, women could choose to enroll in one, two, or all three of the trial components. The components are:  Hormone Therapy Trials (HT): This double-blind component examined the effects of combined hormones or estrogen alone on the prevention of coronary heart disease and osteoporotic fractures, and associated risk for breast cancer. Women participating in this component with an intact uterus were randomized to estrogen plus progestin (conjugated equine estrogens [CEE], 0.625 mg/d plus medroxyprogesterone acetate [MPA] 2.5 mg/d] or a matching placebo. Women with prior hysterectomy were randomized to CEE or placebo. Both trials were stopped early, in July 2002 and March 2004, respectively, based on adverse effects. All HT participants continued to be followed without intervention until close-out. Dietary Modification Trial (DM): The Dietary Modification component evaluated the effect of a low-fat and high fruit, vegetable and grain diet on the prevention of breast and colorectal cancers and coronary heart disease. Study participants were randomized to either their usual eating pattern or a low-fat dietary pattern. Calcium/Vitamin D Trial (CaD): This double-blind component began 1 to 2 years after a woman joined one or both of the other clinical trial components. It evaluated the effect of calcium and vitamin D supplementation on the prevention of osteoporotic fractures and colorectal cancer. Women in this component were randomized to calcium (1000 mg/d) and vitamin D (400 IU/d) supplements or a matching placebo.   The Observational Study (OS) examines the relationship between lifestyle, environmental, medical and molecular risk factors and specific measures of health or disease outcomes. This component involves tracking the medical history and health habits of 93,676 women not participating in the CT. Recruitment for the observational study was completed in 1998 and participants were followed annually for 8 to 12 years. Extension Studies: The original protocol allowed for follow-up until March 2005, after which participants were invited to enroll in the first WHI Extension Study for follow-up through 2010. Participants were invited again to participate in the second WHI Extension Study with continued follow up from 2010 to at least 2015. As of March 31, 2011 there were 93,122 women enrolled in the second extension. In Extension Study 2, the overall WHI study population was divided into two new subsamples, the Medical Records Cohort (MRC) and the Self-Report Cohort (SRC). The MRC consists of all former hormone trial participants and all African American and Hispanic participants from all study components. The SRC consists of the remaining participants. The extent of outcome information collected differs between the two cohorts, with more extensive outcomes information collection on the MRC. As part of Extension Study 2, selected older WHI participants were invited to participate in an In Person Visit (a.k.a., Long Life Study) at their homes during which additional blood samples were collected and various measurements were taken (such as blood pressure, height, weight, waist circumference, grip strength, etc.). In October 2015, Extension Study 2 was renewed with continued follow-up planned through October 2020, pending annual contract review and renewal. Additional Information: The WHI website, https://www.whi.org/about/SitePages/About%20WHI.aspx has much more information about the study. For WHI data collection forms used over the years, please see https://www.whi.org/researchers/studydoc/SitePages/Forms.aspx. For additional dataset documentation, see https://www.whi.org/researchers/data/Pages/Available%20Data.aspx. For data preparation and use, please refer to 'WHI dbGaP Cohort Data Release Data Preparation Guide May 2018' for additional details about the WHI data. The WHI Cohort is utilized in the following dbGaP substudies. To view genotypes, analysis, expression data, other molecular data, and derived variables collected in these substudies, please click on the following substudies below or in the \"Substudies\" section of this top-level study page phs000200 WHI Cohort.  phs000386 WHI SHARe phs000281 GO-ESP WHISP phs000315 WHI GARNET phs000503 WHISE phs000227 PAGE WHI phs000675 WHIMS+ phs000746 WHI Harmonized and Imputed GWAS phs001334 WHI Metabolomics of CHD phs001335 WHI BA23 phs001614 WHI LLS Phase III GWAS     Study Weblinks:   Scientific Resources Website: Women's Health Initiative NHLBI Women's Health Initiative    Study Design:       Prospective Longitudinal Cohort    Study Type:  Partial Factorial Randomized Double-Blind Placebo-Controlled Cohort Longitudinal     dbGaP estimated ancestry using  GRAF-pop       Total number of consented subjects: 143213      Subject Sample Telemetry Report (SSTR)   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"Women's Health Initiative Clinical Trial and Observational Study","short_name":"WHI_HMB-IRB-NPU_","commons":"BioData Catalyst","study_url":"https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000200.v12.p3","_subjects_count":25538,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000204.v1.p1.c1":{"gen3_discovery":{"authz":"/programs/heartfailure/projects/LMD-FSS_GRU","tags":[],"_unique_id":"phs000204.v1.p1.c1","study_id":"phs000204.v1.p1.c1","study_description":"The overall goal of this project is to investigate the etiology and pathogenesis of malformations (i.e., birth defects) of the   limb, concentrating on abnormalities of limb patterning such as limb deficiency/duplications and multiple congenital contractures. The exome sequences of four unrelated individuals were obtained by massively parallel DNA sequencing. The three individuals were   affected with Freeman Sheldon syndrome (OMIM: 193700).   Study Design:       Mendelian    Study Type:  Exome Sequencing        Total number of consented subjects: 3      Subject Sample Telemetry Report (SSTR)   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"Genetic Analysis of Limb Malformation Disorders: Freeman Sheldon Syndrome Exome Sequencing Study (LMD-FSS)","short_name":"LMD-FSS_GRU","commons":"BioData Catalyst","study_url":"","_subjects_count":3,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000209.v13.p3.c1":{"gen3_discovery":{"authz":"/programs/parent/projects/MESA_HMB_","tags":[{"name":"Parent","category":"Program"},{"name":"DCC Harmonized","category":"Data Type"},{"name":"Clinical Phenotype","category":"Data Type"},{"name":"dbGaP","category":"Study Registration"}],"_unique_id":"phs000209.v13.p3.c1","study_id":"phs000209.v13.p3.c1","study_description":"MESA The Multi-Ethnic Study of Atherosclerosis (MESA) is a study of the characteristics of subclinical cardiovascular disease (disease detected non-invasively before it has produced clinical signs and symptoms) and the risk factors that predict progression to clinically overt cardiovascular disease or progression of the subclinical disease. MESA researchers study a diverse, population-based sample of 6,814 asymptomatic men and women aged 45-84. Thirty-eight percent of the recruited participants are white, 28 percent African-American, 22 percent Hispanic, and 12 percent Asian, predominantly of Chinese descent. Participants were recruited from six field centers across the United States: Wake Forest University, Columbia University, Johns Hopkins University, University of Minnesota, Northwestern University and University of California - Los Angeles. Each participant received an extensive physical exam and determination of coronary calcification, ventricular mass and function, flow-mediated endothelial vasodilation, carotid intimal-medial wall thickness and presence of echogenic lucencies in the carotid artery, lower extremity vascular insufficiency, arterial wave forms, electrocardiographic (ECG) measures, standard coronary risk factors, sociodemographic factors, lifestyle factors, and psychosocial factors. Selected repetition of subclinical disease measures and risk factors at follow-up visits allows study of the progression of disease. Blood samples have been assayed for putative biochemical risk factors and stored for case-control studies. DNA has been extracted and lymphocytes cryopreserved (for possible immortalization) for study of candidate genes and possibly, genome-wide scanning, expression, and other genetic techniques. Participants are being followed for identification and characterization of cardiovascular disease events, including acute myocardial infarction and other forms of coronary heart disease (CHD), stroke, and congestive heart failure; for cardiovascular disease interventions; and for mortality. In addition to the six Field Centers, MESA involves a Coordinating Center, a Central Laboratory, and Central Reading Centers for Computed Tomography (CT), Magnetic Resonance Imaging (MRI), Ultrasound, and Electrocardiography (ECG). Protocol development, staff training, and pilot testing were performed in the first 18 months of the study. The first examination took place over two years, from July 2000 - July 2002. It was followed by four examination periods that were 17-20 months in length. Participants have been contacted every 9 to 12 months throughout the study to assess clinical morbidity and mortality. MESA Family The general goal of the MESA Family Study, an ancillary study to MESA funded by a grant from NHLBI, is to apply modern genetic analysis and genotyping methodologies to delineate the genetic determinants of early atherosclerosis. This is being accomplished by utilizing all the current organizational structures of the Multi-Ethnic Study of Atherosclerosis (MESA) and Genetic Centers at Cedars-Sinai Medical Center and University of Virginia. In the MESA Family Study, the goal is to locate and identify genes contributing to the genetic risk for cardiovascular disease (CVD), by looking at the early changes of atherosclerosis within families (mainly siblings). 2128 individuals from 594 families, yielding 3,026 sibpairs divided between African Americans and Hispanic-Americans, were recruited by utilizing the existing framework of MESA. MESA Family studied siblings of index subjects from the MESA study and from new sibpair families (with the same demographic characteristics) and is determining the extent of genetic contribution to the variation in coronary calcium (obtained via CT Scan) and carotid artery wall thickness (B-mode ultrasound) in the two largest non-majority U.S. populations. In a small proportion of subjects, parents of MESA index subjects participating in MESA Family were studied but only to have blood drawn for genotyping. The MESA Family cohort was recruited from the six MESA Field Centers. MESA Family participants underwent the same examination as MESA participants during May 2004 - May 2007. DNA was extracted and lymphocytes immortalized for study of candidate genes, genome-wide linkage scanning, and analyzed for linkage with these subclinical cardiovascular traits. While linkage analysis is the primary approach being used, an additional aspect of the MESA Family Study takes advantage of the existing MESA study population for testing a variety of candidate genes for association with the same subclinical traits. Genotyping and data analysis will occur throughout the study. MESA Air The general goal of the Multi-Ethnic Study of Atherosclerosis and Air Pollution ('MESA Air') is to prospectively examine the relation between an individual level assessment of long-term ambient air pollution exposures (including PM2.5 and the progression of subclinical cardiovascular disease in a multi-city, multi-ethnic cohort. MESA Air will also prospectively examine the relationship between an individual level assessment of long-term ambient air pollution exposures and the incidence of cardiovascular disease, including myocardial infarction and cardiovascular death. MESA AIR is funded by a grant from the United States Environmental Protection Agency to the University of Washington and subcontracts from the UW to other participating institutions. MESA Air will assess if ambient air pollution is associated with changes over time in subclinical measures of atherosclerosis and plasma markers of inflammation, oxidative damage, and endothelial activation in a longitudinal data model, adjusting for age, race/ethnicity, socioeconomic status, and specific cardiovascular risk factors (such as diabetes, hypertension, smoking, and diet). The study will similarly assess if the incidence of cardiovascular events is associated with long-term exposure to ambient air pollution, using a proportional hazards model. The study includes refinement of statistical tools, and explores joint/independent effects of acute and long-term pollutant exposure in the occurrence of cardiovascular disease. The MESA Air study is built on the foundation of the ongoing MESA study. The parent MESA Study cohort is located in six geographic areas ('Field Centers') that capture tremendous exposure heterogeneity, comparable to or greater than the variability in locations of prior U.S. cohort studies. In addition to the six Field Centers, the study involves a Coordinating Center, a Central Laboratory, and Reading Centers for Computed Tomography (CT), ultrasound and air pollution data. The cohort for the MESA Air study currently includes 6226 subjects: 5479 enrolled in the parent MESA study; 257 recruited specifically for this study, and 490 recruited from the MESA Family study. The entire MESA Air cohort will be followed over a 10-year project period for the occurrence of cardiovascular disease events. On two occasions over the ten-year study period, 3600 subjects from the MESA Air cohort, residing in nine locales, will undergo computed tomography scanning to assess presence and extent of coronary artery calcification (CAC), and ultrasound of the carotid artery to determine intima-media thickness (IMT). We will also repeatedly assess plasma markers of inflammation, oxidative damage, and endothelial function in 720 subjects. MESA Air adds state-of-the-art air pollution exposure assessment information to the MESA cohort study, and introduces new subjects and outcome measures to achieve our aims. The study will assess long-term individual-level exposure to ambient air pollutants for each subject using community-scale monitoring, outdoor spatial variation, subject proximity to pollution sources, pollutants' infiltration efficiency, and personal time-activity information. The exposure models will be validated using detailed monitoring in a subset of subjects. The MESA Cohort is utilized in the following dbGaP substudies. To view genotypes, analysis, expression data, other molecular data, and derived variables collected in these substudies, please click on the following substudies below or in the \"Substudies\" section of this top-level study page phs000209 MESA Cohort.  phs000420 MESA SHARe phs000283 MESA CARe phs000403 MESA ESP Heart-GO     Study Weblinks:   MESA MESA Air    Study Design:       Prospective Longitudinal Cohort    Study Type:  Longitudinal Family        Total number of consented subjects: 8296      Subject Sample Telemetry Report (SSTR)   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"Multi-Ethnic Study of Atherosclerosis (MESA) Cohort","short_name":"MESA_HMB_","commons":"BioData Catalyst","study_url":"https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000209.v13.p3","_subjects_count":7440,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000209.v13.p3.c2":{"gen3_discovery":{"authz":"/programs/parent/projects/MESA_HMB-NPU_","tags":[{"name":"Parent","category":"Program"},{"name":"DCC Harmonized","category":"Data Type"},{"name":"Clinical Phenotype","category":"Data Type"},{"name":"dbGaP","category":"Study Registration"}],"_unique_id":"phs000209.v13.p3.c2","study_id":"phs000209.v13.p3.c2","study_description":"MESA The Multi-Ethnic Study of Atherosclerosis (MESA) is a study of the characteristics of subclinical cardiovascular disease (disease detected non-invasively before it has produced clinical signs and symptoms) and the risk factors that predict progression to clinically overt cardiovascular disease or progression of the subclinical disease. MESA researchers study a diverse, population-based sample of 6,814 asymptomatic men and women aged 45-84. Thirty-eight percent of the recruited participants are white, 28 percent African-American, 22 percent Hispanic, and 12 percent Asian, predominantly of Chinese descent. Participants were recruited from six field centers across the United States: Wake Forest University, Columbia University, Johns Hopkins University, University of Minnesota, Northwestern University and University of California - Los Angeles. Each participant received an extensive physical exam and determination of coronary calcification, ventricular mass and function, flow-mediated endothelial vasodilation, carotid intimal-medial wall thickness and presence of echogenic lucencies in the carotid artery, lower extremity vascular insufficiency, arterial wave forms, electrocardiographic (ECG) measures, standard coronary risk factors, sociodemographic factors, lifestyle factors, and psychosocial factors. Selected repetition of subclinical disease measures and risk factors at follow-up visits allows study of the progression of disease. Blood samples have been assayed for putative biochemical risk factors and stored for case-control studies. DNA has been extracted and lymphocytes cryopreserved (for possible immortalization) for study of candidate genes and possibly, genome-wide scanning, expression, and other genetic techniques. Participants are being followed for identification and characterization of cardiovascular disease events, including acute myocardial infarction and other forms of coronary heart disease (CHD), stroke, and congestive heart failure; for cardiovascular disease interventions; and for mortality. In addition to the six Field Centers, MESA involves a Coordinating Center, a Central Laboratory, and Central Reading Centers for Computed Tomography (CT), Magnetic Resonance Imaging (MRI), Ultrasound, and Electrocardiography (ECG). Protocol development, staff training, and pilot testing were performed in the first 18 months of the study. The first examination took place over two years, from July 2000 - July 2002. It was followed by four examination periods that were 17-20 months in length. Participants have been contacted every 9 to 12 months throughout the study to assess clinical morbidity and mortality. MESA Family The general goal of the MESA Family Study, an ancillary study to MESA funded by a grant from NHLBI, is to apply modern genetic analysis and genotyping methodologies to delineate the genetic determinants of early atherosclerosis. This is being accomplished by utilizing all the current organizational structures of the Multi-Ethnic Study of Atherosclerosis (MESA) and Genetic Centers at Cedars-Sinai Medical Center and University of Virginia. In the MESA Family Study, the goal is to locate and identify genes contributing to the genetic risk for cardiovascular disease (CVD), by looking at the early changes of atherosclerosis within families (mainly siblings). 2128 individuals from 594 families, yielding 3,026 sibpairs divided between African Americans and Hispanic-Americans, were recruited by utilizing the existing framework of MESA. MESA Family studied siblings of index subjects from the MESA study and from new sibpair families (with the same demographic characteristics) and is determining the extent of genetic contribution to the variation in coronary calcium (obtained via CT Scan) and carotid artery wall thickness (B-mode ultrasound) in the two largest non-majority U.S. populations. In a small proportion of subjects, parents of MESA index subjects participating in MESA Family were studied but only to have blood drawn for genotyping. The MESA Family cohort was recruited from the six MESA Field Centers. MESA Family participants underwent the same examination as MESA participants during May 2004 - May 2007. DNA was extracted and lymphocytes immortalized for study of candidate genes, genome-wide linkage scanning, and analyzed for linkage with these subclinical cardiovascular traits. While linkage analysis is the primary approach being used, an additional aspect of the MESA Family Study takes advantage of the existing MESA study population for testing a variety of candidate genes for association with the same subclinical traits. Genotyping and data analysis will occur throughout the study. MESA Air The general goal of the Multi-Ethnic Study of Atherosclerosis and Air Pollution ('MESA Air') is to prospectively examine the relation between an individual level assessment of long-term ambient air pollution exposures (including PM2.5 and the progression of subclinical cardiovascular disease in a multi-city, multi-ethnic cohort. MESA Air will also prospectively examine the relationship between an individual level assessment of long-term ambient air pollution exposures and the incidence of cardiovascular disease, including myocardial infarction and cardiovascular death. MESA AIR is funded by a grant from the United States Environmental Protection Agency to the University of Washington and subcontracts from the UW to other participating institutions. MESA Air will assess if ambient air pollution is associated with changes over time in subclinical measures of atherosclerosis and plasma markers of inflammation, oxidative damage, and endothelial activation in a longitudinal data model, adjusting for age, race/ethnicity, socioeconomic status, and specific cardiovascular risk factors (such as diabetes, hypertension, smoking, and diet). The study will similarly assess if the incidence of cardiovascular events is associated with long-term exposure to ambient air pollution, using a proportional hazards model. The study includes refinement of statistical tools, and explores joint/independent effects of acute and long-term pollutant exposure in the occurrence of cardiovascular disease. The MESA Air study is built on the foundation of the ongoing MESA study. The parent MESA Study cohort is located in six geographic areas ('Field Centers') that capture tremendous exposure heterogeneity, comparable to or greater than the variability in locations of prior U.S. cohort studies. In addition to the six Field Centers, the study involves a Coordinating Center, a Central Laboratory, and Reading Centers for Computed Tomography (CT), ultrasound and air pollution data. The cohort for the MESA Air study currently includes 6226 subjects: 5479 enrolled in the parent MESA study; 257 recruited specifically for this study, and 490 recruited from the MESA Family study. The entire MESA Air cohort will be followed over a 10-year project period for the occurrence of cardiovascular disease events. On two occasions over the ten-year study period, 3600 subjects from the MESA Air cohort, residing in nine locales, will undergo computed tomography scanning to assess presence and extent of coronary artery calcification (CAC), and ultrasound of the carotid artery to determine intima-media thickness (IMT). We will also repeatedly assess plasma markers of inflammation, oxidative damage, and endothelial function in 720 subjects. MESA Air adds state-of-the-art air pollution exposure assessment information to the MESA cohort study, and introduces new subjects and outcome measures to achieve our aims. The study will assess long-term individual-level exposure to ambient air pollutants for each subject using community-scale monitoring, outdoor spatial variation, subject proximity to pollution sources, pollutants' infiltration efficiency, and personal time-activity information. The exposure models will be validated using detailed monitoring in a subset of subjects. The MESA Cohort is utilized in the following dbGaP substudies. To view genotypes, analysis, expression data, other molecular data, and derived variables collected in these substudies, please click on the following substudies below or in the \"Substudies\" section of this top-level study page phs000209 MESA Cohort.  phs000420 MESA SHARe phs000283 MESA CARe phs000403 MESA ESP Heart-GO     Study Weblinks:   MESA MESA Air    Study Design:       Prospective Longitudinal Cohort    Study Type:  Longitudinal Family        Total number of consented subjects: 8296      Subject Sample Telemetry Report (SSTR)   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"Multi-Ethnic Study of Atherosclerosis (MESA) Cohort","short_name":"MESA_HMB-NPU_","commons":"BioData Catalyst","study_url":"https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000209.v13.p3","_subjects_count":856,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000221.v1.p1.c1":{"gen3_discovery":{"authz":"/programs/heartfailure/projects/FamHS_GRU","tags":[],"_unique_id":"phs000221.v1.p1.c1","study_id":"phs000221.v1.p1.c1","study_description":"The Family Heart Study (FamHS) was funded by the National Heart, Lung, and Blood Institute (NHLBI). It was begun in 1992 with the ascertainment of 1,200 families, half randomly sampled, and half selected because of an excess of coronary heart disease (CHD) or risk factor abnormalities as compared with age- and sex-specific population rates (Higgins et al. 1996). The families, with approximately 6,000 individuals, were sampled on the basis of information on probands from four population-based parent studies: the Framingham Heart Study, the Utah Family Tree Study, and two Atherosclerosis Risk in Communities (ARIC) centers (Minneapolis, and Forsyth County, NC). A broad range of phenotypes were assessed at a clinic examination in broad domains of CHD, atherosclerosis, cardiac and vascular function, inflammation and hemostasis, lipids and lipoproteins, blood pressure, diabetes and insulin resistance, pulmonary function, and anthropometry (FamHS Visit 1). Approximately 8 years later, study participants belonging to the largest pedigrees were invited for a second clinical exam (FamHS Visit 2). A total of 2,756 Caucasian subjects in 508 extended families were examined. A two-phase design was adopted for the genome wide association (GWA) study. In phase-1, 1007 subjects were chosen, equally distributed between the upper and lower quartile of age- and sex-adjusted values for coronary artery calcification, assessed by CT scan in Visit 2. These subjects were chosen to be largely unrelated; 34% of the subjects were from unique families, while 200 other subjects had 1 or more siblings selected into the sample, yielding a sample of 465 unrelated subjects. The remaining family members (N=1749) were genotyped in the phase-2 for replication of the top hits from the phase-1. The results presented here represent those for the analysis of the phase-1 case-control sample for variables assessed in FamHS Visit 1 (from 1992 to 1995) and for the variables assessed in FamHS Visit 2 (from 2002 to 2003). All subjects were typed on the Illumina HumMap 550 chip (Phase 1 genotype). Of these, 33 (3.3%) were excluded due to technical errors, call rates below 98%, and discrepancies between reported sex and sex-diagnostic markers. The final sample of 974 subjects have Visit 2 phenotypes, approximately 100 of these do not have Visit 1 phenotypes. There was no significant plate-to-plate variation in allele frequencies. The covariate adjustments were performed separately by sex using cubic polynomial age and clinical centers, and retaining the terms in the stepwise regression analysis that were significant at the 5% level. Extreme outliers (>4 SD from the mean) were set aside, temporarily, for the adjustments. The final phenotypes were computed for all individuals using the best mean regression models and standardizing to 0 mean and unit variance. The FamHS has contributed GWA results in many phenotype domains (antropometric and adiposity, atherosclerosis and coronary heart disease, lipid profile, diabetes and glicemic traits, metabolic syndrome etc) to meta-analyses and various consortia, including Heard-Costa et al. 2009, Köttgen et al. 2010, Teslovich et al. 2010, Nettleton et al. 2010, Lango et al. 2010, Heid et al. 2010, Speliotes et al. 2010, Dupuis et al. 2010, Kraja et al. 2011.   Study Weblinks:   The NHLBI Family Heart Study FHS SCAN    Study Design:       Prospective Longitudinal Cohort    Study Type:  Family Longitudinal   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"NHLBI Family Heart Study (FamHS-Visit1 and FamHS-Visit2)","short_name":"FamHS_GRU","commons":"BioData Catalyst","study_url":"","_subjects_count":0,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000223.v8.p2.c1":{"gen3_discovery":{"authz":"/programs/dbGaP/projects/PAGE_CALiCo_ARIC_HMB-IRB","tags":[],"_unique_id":"phs000223.v8.p2.c1","study_id":"phs000223.v8.p2.c1","study_description":"This sub-study phs000223 PAGE CALiCo ARIC contains genotype data and selected phenotype of subjects available from the phs000223. Summary level phenotypes for the NHLBI ARIC Cohort study participants can be viewed at the top-level study page phs000280 ARIC Cohort. Individual level phenotype data and molecular data for all ARIC Cohort top-level study and sub-study are available by requesting Authorized Access to the NHLBI ARIC Cohort phs000280 study. CALiCo ARIC The Atherosclerosis Risk in Communities Study (ARIC), sponsored by the National Heart, Lung and Blood Institute (NHLBI), is a prospective epidemiologic study conducted in four U.S. communities. ARIC is designed to investigate the etiology and natural history of atherosclerosis, the etiology of clinical atherosclerotic diseases, and variation in cardiovascular risk factors, medical care and disease by race, gender, location, and date. ARIC includes a Cohort Component and a Community Surveillance Component. Cohort enrollment began in 1987. Each ARIC field center randomly selected and recruited a sample of approximately 4,000 individuals aged 45-64 from a defined population in their community. A total of 15,792 participants received an extensive examination, including medical, social, and demographic data. These participants were reexamined every three years with the first screen (baseline) occurring in 1987-89, the second in 1990-92, the third in 1993-95, and the fourth and last exam wastook place in 1996-98. Follow-up occurs yearly byA fifth cohort examination is underway (2011-2013). Yearly telephone tointerviews maintain contact with participants and to assess health status of the cohort. In the Community Surveillance Component, currently ongoing, these four communities are investigated to determine the community-wide occurrence of hospitalized myocardial infarction and coronary heart disease deaths in men and women aged 35-84 years. Hospitalized stroke is investigated in cohort participants only. The study conducts community surveillance of inpatient heart failure (ages 55 years and older) and cohort surveillance outpatient heart failure events beginning in 2005. This study is part of the Population Architecture using Genomics and Epidemiology (PAGE) study phs000356.   Study Weblinks:   Population Architecture using Genomics and Epidemiology    (PAGE) ARIC    Study Design:       Prospective Longitudinal Cohort    Study Type:  Longitudinal     dbGaP estimated ancestry using  GRAF-pop       Total number of consented subjects: 3516      Subject Sample Telemetry Report (SSTR)   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"Population Architecture using Genomics and Epidemiology (PAGE): Causal Variants Across the Life Course (CALiCo): Atherosclerosis Risk in Communities (ARIC)","short_name":"PAGE_CALiCo_ARIC_HMB-IRB","commons":"BioData Catalyst","study_url":"","_subjects_count":3301,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000223.v8.p2.c2":{"gen3_discovery":{"authz":"/programs/dbGaP/projects/PAGE_CALiCo_ARIC_DS-CVD-IRB","tags":[],"_unique_id":"phs000223.v8.p2.c2","study_id":"phs000223.v8.p2.c2","study_description":"This sub-study phs000223 PAGE CALiCo ARIC contains genotype data and selected phenotype of subjects available from the phs000223. Summary level phenotypes for the NHLBI ARIC Cohort study participants can be viewed at the top-level study page phs000280 ARIC Cohort. Individual level phenotype data and molecular data for all ARIC Cohort top-level study and sub-study are available by requesting Authorized Access to the NHLBI ARIC Cohort phs000280 study. CALiCo ARIC The Atherosclerosis Risk in Communities Study (ARIC), sponsored by the National Heart, Lung and Blood Institute (NHLBI), is a prospective epidemiologic study conducted in four U.S. communities. ARIC is designed to investigate the etiology and natural history of atherosclerosis, the etiology of clinical atherosclerotic diseases, and variation in cardiovascular risk factors, medical care and disease by race, gender, location, and date. ARIC includes a Cohort Component and a Community Surveillance Component. Cohort enrollment began in 1987. Each ARIC field center randomly selected and recruited a sample of approximately 4,000 individuals aged 45-64 from a defined population in their community. A total of 15,792 participants received an extensive examination, including medical, social, and demographic data. These participants were reexamined every three years with the first screen (baseline) occurring in 1987-89, the second in 1990-92, the third in 1993-95, and the fourth and last exam wastook place in 1996-98. Follow-up occurs yearly byA fifth cohort examination is underway (2011-2013). Yearly telephone tointerviews maintain contact with participants and to assess health status of the cohort. In the Community Surveillance Component, currently ongoing, these four communities are investigated to determine the community-wide occurrence of hospitalized myocardial infarction and coronary heart disease deaths in men and women aged 35-84 years. Hospitalized stroke is investigated in cohort participants only. The study conducts community surveillance of inpatient heart failure (ages 55 years and older) and cohort surveillance outpatient heart failure events beginning in 2005. This study is part of the Population Architecture using Genomics and Epidemiology (PAGE) study phs000356.   Study Weblinks:   Population Architecture using Genomics and Epidemiology    (PAGE) ARIC    Study Design:       Prospective Longitudinal Cohort    Study Type:  Longitudinal     dbGaP estimated ancestry using  GRAF-pop       Total number of consented subjects: 3516      Subject Sample Telemetry Report (SSTR)   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"Population Architecture using Genomics and Epidemiology (PAGE): Causal Variants Across the Life Course (CALiCo): Atherosclerosis Risk in Communities (ARIC)","short_name":"PAGE_CALiCo_ARIC_DS-CVD-IRB","commons":"BioData Catalyst","study_url":"","_subjects_count":215,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000244.v1.p1.c1":{"gen3_discovery":{"authz":"/programs/heartfailure/projects/LMD-MS_GRU","tags":[],"_unique_id":"phs000244.v1.p1.c1","study_id":"phs000244.v1.p1.c1","study_description":"The overall goal of this project is to investigate the etiology and pathogenesis of malformations (i.e., birth defects) of the   limb, concentrating on abnormalities of limb patterning such as limb deficiency/duplications and multiple congenital contractures. The exome sequences of two siblings and two unrelated individuals were obtained by massively parallel DNA sequencing.   The four individuals were affected with Miller syndrome (OMIM: 263750). Additionally, the whole-genome sequences of a family of four were obtained with the method of Complete Genomics Incorporated (CGI).   The two offspring were both affected with Miller syndrome and is the same sibling pair mentioned previously from whom exome sequences   were also obtained.   Study Design:       Mendelian    Study Type:  Exome Sequencing Pedigree Whole Genome Sequencing        Total number of consented subjects: 6      Subject Sample Telemetry Report (SSTR)   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"Genetic Analysis of Limb Malformation Disorders: Miller Syndrome Sequencing Study (LMD-MS)","short_name":"LMD-MS_GRU","commons":"BioData Catalyst","study_url":"","_subjects_count":6,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}},{"phs000253.v1.p1.c1":{"gen3_discovery":{"authz":"/programs/heartfailure/projects/HLC_GRU","tags":[{"name":"dbGaP","category":"Study Registration"}],"_unique_id":"phs000253.v1.p1.c1","study_id":"phs000253.v1.p1.c1","study_description":"The Human Liver Cohort (HLC) study aimed to characterize the genetic architecture of gene expression in human liver    using genotyping, gene expression profiling, and enzyme activity measurements of Cytochrom P450. The HLC was assembled    from a total of 780 liver samples screened.  DNA samples were genotyped on the Affymetrix 500K SNP and Illumina 650Y    SNP genotyping arrays.  Only data from those samples which were collected postmortem are accessible through this submission.     These 228 samples represent a subset of the 427 samples included in the Human Liver Cohort Publication (Schadt, Molony    et al. 2008, PMID: 18462017).      RNA samples were profiled on a custom Agilent 44,000 feature microarray composed of 39,280 oligonucleotide probes targeting    transcripts representing 34,266 known and predicted genes, including high-confidence, noncoding RNA sequences. Gene Expression    data for the samples from which it could be obtained is available in GEO under accession number GSE9588. Results and networks will be made available for download from Sage Bionetworks.   Study Design:       Cross-Sectional    Study Type:  Population        Total number of consented subjects: 228      Subject Sample Telemetry Report (SSTR)   NOTE: This text was scraped from https://www.ncbi.nlm.nih.gov/ on 2026-01-09 and may not include exact formatting or images.","full_name":"Human Liver Cohort (HLC)","short_name":"HLC_GRU","commons":"BioData Catalyst","study_url":"https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000253.v1.p1","_subjects_count":228,"__manifest":[],"commons_url":"gen3.biodatacatalyst.nhlbi.nih.gov","commons_name":"BioData Catalyst"}}}]}