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- 2023-05-16 - 6 Formulär, 1 Item-grupp, 4 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: John Blangero, PhD, University of Texas Rio Grande Valley, Brownsville, TX, USA MeSH: Cardiovascular Diseases,Body Height,Body Weight,Body Mass Index,Waist Circumference,Blood Glucose,Insulin,Diabetes Mellitus, Type 2,Blood Pressure,Cholesterol,Cholesterol, HDL,Triglycerides https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001215 The San Antonio Family Heart Study (SAFHS) is a complex pedigree-based mixed longitudinal study designed to identify low frequency or rare variants influencing susceptibility to cardiovascular disease, using whole genome sequence (WGS) information from 2,590 individuals in large Mexican American pedigrees from San Antonio, Texas. The major objectives of this study are to identify low frequency or rare variants in and around known common variant signals for CVD, as well as to find novel low frequency or rare variants influencing susceptibility to CVD. WGS of the SAFHS cohort has been obtained through three efforts. Approximately 540 WGS were performed commercially at 50X by Complete Genomics, Inc (CGI) as part of the large T2D-GENES Project. The phenotype and genotype data for this group is available at dbGaP under accession number phs000462. An additional ~900 WGS at 30X were obtained through Illumina as part of the R01HL113322 "Whole Genome Sequencing to Identify Causal Genetic Variants Influencing CVD Risk" project. Finally, ~1,150 WGS at 30X WGS were obtained through Illumina funded by a supplement as part of the NHLBI's TOPMed program. Extensive phenotype data are provided for sequenced individuals primarily obtained from the P01HL45522 "Genetics of Atherosclerosis in Mexican Americans" for adults and R01HD049051 for children in these same families. Phenotype information was collected between 1991 and 2016. For this dataset, the SAFHS appellation represents an amalgamation of the original SAFHS participants and an expansion that reexamined families previously recruited for the San Antonio Family Diabetes Study (R01DK042273) and the San Antonio Family Gall Bladder Study (R01DK053889). Due to this substantial examination history, participants may have information from up to five visits. The clinical variables reported are coordinated with TOPMed and include major adverse cardiac events (MACE), T2D status and age at diagnosis, glycemic traits (fasting glucose and insulin), blood pressure, blood lipids (total cholesterol, HDL cholesterol, calculated LDL cholesterol and triglycerides). Additional phenotype data include the medication status at each visit, classified in four categories as any current use of diabetes, hypertension or lipid-lowering medications, and, for females, current use of female hormones. Anthropometric measurements include age, sex, height, weight, hip circumference, waist circumference and derived ratios. PBMC derived gene expression assays for a subset of ~1,060 individuals obtained using the Illumina Sentrix-6 chip is also available from the baseline examination. The WGS data have been jointly called and are available in the current TOPMed accession (phs001215).

pht008628.v2.p2

1 Item-grupp 4 Dataelement

pht008629.v2.p2

1 Item-grupp 6 Dataelement

pht008631.v2.p2

1 Item-grupp 24 Dataelement

pht008632.v2.p2

1 Item-grupp 10 Dataelement

pht008630.v2.p2

1 Item-grupp 2 Dataelement
- 2023-12-01 - 4 Formulär, 1 Item-grupp, 1 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: Vasan Ramachandran, Department of Medicine, Boston University School of Medicine, Boston, MA, USA MeSH: Cardiovascular Diseases,Atherosclerosis,Atrial Fibrillation,Death, Sudden, Cardiac,Diabetes Mellitus, Type 2,Heart Failure,Blood Pressure,Hypertension,Body Mass Index,Adiposity,Lipids,Pulmonary Disease, Chronic Obstructive,Renal Insufficiency, Chronic,Stroke,Osteoporosis,Risk Factors,Biological Markers,Biomarkers, Pharmacological https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000974 The Framingham Heart Study (FHS) is a prospective cohort study of 3 generations of subjects who have been followed up to 65 years to evaluate risk factors for cardiovascular disease. Its large sample of ~15,000 men and women who have been extensively phenotyped with repeated examinations make it ideal for the study of genetic associations with cardiovascular disease risk factors and outcomes. DNA samples have been collected and immortalized since the mid-1990s and are available on ~8000 study participants in 1037 families. These samples have been used for collection of GWAS array data and exome chip data in nearly all with DNA samples, and for targeted sequencing, deep exome sequencing and light coverage whole genome sequencing in limited numbers. Additionally, mRNA and miRNA expression data, DNA methylation data, metabolomics and other 'omics data are available on a sizable portion of study participants. This project will focus on deep whole genome sequencing (mean 30X coverage) in ~4100 subjects and imputed to all with GWAS array data to more fully understand the genetic contributions to cardiovascular, lung, blood and sleep disorders. Comprehensive phenotypic and pedigree data for study participants are available through dbGaP phs000007.

pht004909.v3.p3

1 Item-grupp 2 Dataelement

pht004910.v4.p3

1 Item-grupp 2 Dataelement

pht004911.v3.p3

1 Item-grupp 9 Dataelement

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