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dbGaP phs000737 NIDDK Genetics of Metabolic Syndrome in an Island Population - Eligibility

- 12/28/22 - 6 forms, 1 itemgroup, 1 item, 1 language

Itemgroup: IG.elig

Principal Investigator: Ranjan Deka, PhD, University of Cincinnati, Cincinnati, OH, USA MeSH: Metabolic Syndrome X,Diabetes mellitus type 2,Hypertension, Essential,Dyslipidemia,Coronary Heart Disease,Gout https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000737 The major objective of this study was to conduct a systematic genetic study of metabolic traits involved in metabolic syndrome through collection and analysis of epidemiological, demographic, environmental, and relevant biological and clinical data from a relatively isolated island population of the eastern Adriatic coast of Croatia. The population was chosen for the following reasons: 1) in spite of practicing a largely traditional life style and dietary habits, high rates of obesity, arterial hypertension, dyslipidemia and related metabolic abnormalities were found in previous studies; 2) the population was established by a relatively small number of founders, predominantly of Slavic descent from the mainland during 15th to 18th century AD, a genetically homogeneous population living in a homogeneous environment; 3) sharing a common European ancestry, a relevant population for study in the context of the general US population; 4) Croatian collaborators have been conducting anthropological and genetic studies in these communities for over three decades. There were two major aims of the study: 1) to recruit ~1200 adult participants and collect blood samples together with demographic, anthropometric, environmental and clinical data from the island of Hvar; to perform biochemical tests to measure glucose, insulin, uric acid and lipid levels; 2) conduct a genome-wide association analysis of metabolic traits and phenotypes using genome-wide SNP arrays (Affymetrix Genome-Wide Human SNP Array 5.0).

pht004443.v1.p1

1 itemgroup 4 items

pht004444.v1.p1

1 itemgroup 5 items

pht004445.v1.p1

1 itemgroup 7 items

pht004446.v1.p1

1 itemgroup 52 items

pht004447.v1.p1

1 itemgroup 6 items

dbGaP phs000433 The Sea Islands Genetic Network (SIGNET) - pht002433.v1.p1

- 10/12/22 - 6 forms, 1 itemgroup, 7 items, 1 language

Itemgroup: pht002433

Principal Investigator: Michele M. Sale, PhD, University of Virginia, Charlottesville, VA, USA MeSH: Type 2 Diabetes Mellitus,Dyslipidemia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000433 Recent genome-wide association studies (GWAS) have successfully identified genetic variants that influence diabetes risk in European populations, however most do not have a major impact on diabetes risk in populations of African descent. The African American (AA) population from the Sea Islands of coastal South Carolina and Georgia has high rates of type 2 diabetes, low levels of admixture, and in general, consume a diet rich in saturated fats. We postulate that this unique combination of ancestral and environmental factors results in a more consistent penetrance of diabetes risk alleles, as well as enrichment of risk alleles of African origin. The existing DNA samples and rich phenotypic data from the Sea Island Families Project comprise a unique resource for genetic studies of type 2 diabetes and related metabolic traits such as dyslipidemia. Our central hypothesis is that the increased risk for T2DM in AA compared with European American (EA) is due, in part, to susceptibility alleles of African origin, and that these alleles can be identified using a GWAS. The Specific Aims are to: 1) Identify genetic risk factors for type 2 diabetes utilizing DNA samples and data from the Sea Island Families Project, Reasons for Geographic and Racial Differences in Stroke (REGARDS) Study recruited from SC, GA, NC, and AL; and a GWAS approach; 2) Identify genetic contributors to lipoprotein subclasses in African Americans using the lipoprotein subclass profile (particle size and concentration for multiple subclasses of VLDL, LDL, and HDL) assessed by NMR at LipoScience, Inc., and the GWAS data from Aim 1. The rationale for this project is that identification and validation of novel pathophysiological pathways and informed selection of candidate genes for diabetes risk will inform development of new, targeted prevention and treatment strategies in this underserved, high risk population.

pht002434.v1.p1

1 itemgroup 6 items

pht002435.v1.p1

1 itemgroup 6 items

pht002436.v1.p1

1 itemgroup 51 items

pht002437.v1.p1

1 itemgroup 4 items

Eligibility

1 itemgroup 4 items

Eligibility Dyslipidemias NCT01462877

- 12/3/19 - 1 form, 2 itemgroups, 19 items, 1 language

Itemgroups: Inclusion Criteria, Exclusion Criteria

A Study to Evaluate Fenofibrate Combination With Statin in Chinese Patients With Dyslipidemic; ODM derived from: https://clinicaltrials.gov/show/NCT01462877

Eligibility Dyslipidemia NCT01594567

- 12/21/18 - 1 form, 2 itemgroups, 10 items, 1 language

Itemgroups: Inclusion Criteria, Exclusion Criteria

Meta-analyses of Dietary Pulses and Cardiometabolic Risk; ODM derived from: https://clinicaltrials.gov/show/NCT01594567

Eligibility Dyslipidemia NCT01285544

- 3/15/18 - 1 form, 2 itemgroups, 12 items, 1 language

Itemgroups: Inclusion Criteria, Exclusion Criteria

The Efficacy and Tolerability of Two Formulations of Atorvastatin In Korean Adult With Hypercholesterolemia; ODM derived from: https://clinicaltrials.gov/show/NCT01285544

Eligibility Dyslipidemia NCT01047176

- 3/15/18 - 1 form, 2 itemgroups, 14 items, 1 language

Itemgroups: Inclusion Criteria, Exclusion Criteria

Observational Study to Estimate the Rates of Outcomes in Patients Undergoing Percutaneous Coronary Intervention (PCI) With Drug Eluting Stent (DES) Implantation Who Take Statins; ODM derived from: https://clinicaltrials.gov/show/NCT01047176

Eligibility Dyslipidemia NCT01029522

- 3/15/18 - 1 form, 2 itemgroups, 23 items, 1 language

Itemgroups: Inclusion Criteria, Exclusion Criteria

Dyslipidemia in Cardiovascular Disease; ODM derived from: https://clinicaltrials.gov/show/NCT01029522

dbGaP phs000388 IPM BioBank GWAS - pht002351.v1.p1

- 10/12/22 - 4 forms, 1 itemgroup, 2 items, 1 language

Itemgroup: pht002351

Principal Investigator: Erwin P. Bottinger, Charles R. Bronfman Institute for Personalized Medicine, Mount Sinai School of Medicine, New York, NY, USA MeSH: Coronary Artery Disease,Chronic Kidney Failure,Diabetes Mellitus, Type 2,Hypertension,Dyslipidemias https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000388 The Institute for Personalized Medicine (IPM) Biobank Project is a consented, EMR-linked medical care setting biorepository of the Mount Sinai Medical Center (MSMC) drawing from a population of over 70,000 inpatients and 800,000 outpatient visits annually. MSMC serves diverse local communities of upper Manhattan, including Central Harlem (86% African American), East Harlem (88% Hispanic Latino), and Upper East Side (88% Caucasian/white) with broad health disparities. IPM Biobank populations include 28% African American (AA), 38% Hispanic Latino (HL) predominantly of Caribbean origin, 23% Caucasian/White (CW). IPM Biobank disease burden is reflective of health disparities with broad public health impact: average body mass index of 28.9 and frequencies of hypertension (55%), hypercholesterolemia (32%), diabetes (30%), coronary artery disease (25%), chronic kidney disease (23%), among others. Biobank operations are fully integrated in clinical care processes, including direct recruitment from clinical sites, waiting areas and phlebotomy stations by dedicated Biobank recruiters independent of clinical care providers, prior to or following a clinician standard of care visit. Recruitment currently occurs at a broad spectrum of over 30 clinical care sites. Minorities are strikingly underrepresented in GWAS, including Coronary Artery Disease (CAD) and Chronic Kidney Disease; multigenic genetic risk scores for CAD have been recently validated in European ancestry populations, but not in AA or HL populations. Several important opportunities exist for extending additional GWAS to minority populations with a shared risk spectrum of CAD and CKD. For example, progressive CKD is a major and independent risk factor for CVD with an inverse relationship between estimated GFR (eGFR), and risk for mortality and cardiovascular events. This increased risk is only partially explained by the prevalence of cardiovascular risk factors among these patients. We conducted a GWAS of CAD and CKD related phenotypes in IPM Biobank with the primary objective to explore the genetics of overlapping CAD and CKD predominantly in minority populations characterized by increased risk.

pht002352.v1.p1

1 itemgroup 2 items

pht002353.v1.p1

1 itemgroup 9 items

Eligibility

1 itemgroup 1 item

dbGaP phs001341 NextGen Consortium: iPS Derived Hepatocytes Study (PhLiPS Study) - pht006244.v1.p1

- 3/11/23 - 5 forms, 1 itemgroup, 3 items, 1 language

Itemgroup: pht006244

Principal Investigator: Daniel J. Rader, MD, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA MeSH: Lipids,Cholesterol,Cholesterol, LDL,Cholesterol, HDL,Triglycerides,Dyslipidemias https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001341 The goal of the PhLiPS study is to create a library of induced pluripotent stem cell (iPSC) lines and iPSC-derived hepatocytes of diverse genotypes for use in metabolic profiling and interrogating lipid phenotypes. These cell lines were created as a part of the Next Generation Genetic Association Studies (Next Gen) Program, which was a five-year, $80 million program to investigate functional genetic variation in humans by assessing cellular profiles that are surrogates for disease phenotypes. To achieve this, researchers from multiple institutions across the U.S. were awarded grants to derive iPSC lines from more than 1,500 individuals representing various conditions as well as healthy controls for use in functional genomic ("disease in a dish") research. This extensive panel includes a diverse set of age, gender, and ethnic backgrounds, and therefore will be an invaluable tool for evaluations across demographics. Further enhancing the utility of these cell lines are data sets such as phenotyping, GWAS, genome sequencing, gene expression and -omics analyses (e.g., lipidomic, proteomic, methylomic) that can be matched to the cell lines. The PhLiPS Study focuses on individuals free of cardiovascular disease or with lipoprotein metabolism disorders in the community served by the Hospital of the University of Pennsylvania.

pht007171.v1.p1

1 itemgroup 5 items

pht006246.v1.p1

1 itemgroup 9 items

pht006245.v1.p1

1 itemgroup 3 items

pht006863.v1.p1

1 itemgroup 8 items

dbGaP phs000397 NIA Long Life Family Study (LLFS) - Eligibility

- 10/12/22 - 6 forms, 1 itemgroup, 3 items, 1 language

Itemgroup: IG.elig

Principal Investigator: Michael A. Province, PhD, Washington University School of Medicine, St. Louis, MO, USA MeSH: Longevity,Aging,Cardiovascular Diseases,Neoplasms,Stroke,Inflammation,Immune System,Diabetes Mellitus,Hypertension,Dyslipidemias,Lipids,Osteoporosis,Pulmonary Function Tests,Kidney Function Tests,Alzheimer Disease,Depression,Personality,Executive Function,Reproductive History https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000397 The Long Life Family Study (LLFS) is an international collaborative study of the genetics and familial components of exceptional survival, longevity, and healthy aging. Families were recruited through elderly probands (generally in their 90s) who self-reported on the survival history of their parents and siblings, and on the basis of this information, families which showed clustering of exceptional survival were recruited. [Specifically, a Family Longevity Selection Score (FLOSS) ≥7 was required. The FLOSS measures the average excess Observed lifespan over that Expected based upon lifetables, while adding a bonus term for still-living individuals. Thus FLOSS is a useful tool for scoring and selecting families for inclusion in a research study of exceptional survival (Sebastiani et al., 2009, PMID: 19910380)]. Probands resided in the catchment areas of four Field Centers (Boston University, Columbia University, University of Pittsburgh, and University of Southern Denmark). Recruited family members were phenotyped through extensive in-home visits by teams of technicians who traveled all over the USA and Denmark. Blood assays were centrally processed at a Laboratory Core (University of Minnesota) and protocols were standardized, monitored and coordinated through a Data Management Coordinating Center (Washington University). We examined and extensively phenotyped in all major domains of healthy aging, 4,953 individuals in 539 families through comprehensive in-home visits. Of these, 4,815 gave dbGaP sharing permission and had sufficient quantity/quality of DNA for GWAS genotyping. This large collection of families, selected on the basis of clustering for exceptional survival, is a unique resource for the study of human longevity and healthy aging. We estimate that less than 1% of the Framingham Heart Study (FHS) families (a roughly random population family sample) would meet the minimal entrance criteria for exceptional survival required in the LLFS (Sebastiani et al., 2009, PMID: 19910380). Thus, the least exceptional LLFS families show more clustering for exceptional longevity than 99% of the FHS families. Although the LLFS pedigrees were selected on the basis of longevity per se in the upper generation (and the generation above that), the children's generation have significantly lower rates of many major diseases and have better healthy aging profiles for many disease phenotypes (Newman et al., 2011, PMID: 21258136). The participants had their first in-person visit between 2006 and 2009. After that visit, they were contacted annually by telephone to update vital status, medical history, and general health. Between 2014 and 2017, willing participants completed a second in-person visit. The second visit followed the same protocols and centralized training as the first visit. During the second visit, a portable carotid ultrasound exam was added. Again, participants were continuously contacted annually for telephone follow-up during the period of the second in-person visit and after that. Annual telephone follow-ups currently ongoing, and plans for a third in-person visit are in progress.

pht002407.v3.p3

1 itemgroup 4 items

pht002408.v3.p3

1 itemgroup 6 items

pht002410.v3.p3

1 itemgroup 106 items

pht003356.v3.p3

1 itemgroup 4 items

pht002409.v3.p3

1 itemgroup 3 items

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