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Study Description

This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program. TOPMed is part of a broader Precision Medicine Initiative, which aims to provide disease treatments that are tailored to an individual's unique genes and environment. TOPMed will contribute to this initiative through the integration of whole-genome sequencing (WGS) and other -omics (e.g., metabolic profiles, protein and RNA expression patterns) data with molecular, behavioral, imaging, environmental, and clinical data. In doing so, this program aims to uncover factors that increase or decrease the risk of disease, to identify subtypes of disease, and to develop more targeted and personalized treatments. Two genotype call sets derived from WGS are now available, one called Freeze 4 (GRCh37) and another called Freeze 5b (GRCh38), with largely overlapping sample sets. Information about how to identify other TOPMed WGS accessions for cross-study analysis, as well as descriptions of TOPMed methods of data acquisition, data processing and quality control, are provided in the accompanying documents, "TOPMed Whole Genome Sequencing Project - Freeze 4, Phase 1" and "TOPMed Whole Genome Sequencing Project - Freeze 5b, Phases 1 and 2". Please check the study list at the top of each of these methods documents to determine whether it applies to this study accession.

The GenSalt study aims to identify genes which interact with dietary sodium and potassium intake to influence blood pressure in Han Chinese participants from rural north China. Whole genome sequencing will be conducted among 1,860 participants of the Genetic Epidemiology Network of Salt Sensitivity (GenSalt) Study. We will work in collaboration with participating TOPMed studies to identify novel common, low-frequency and rare variants associated with an array of cardiometabolic phenotypes. In addition, we will explore the relation of low-frequency and rare variants with salt-sensitivity among GenSalt study participants.

  • Study Types: Parent-Offspring Trios, Cohort
  • dbGaP estimated ancestry components using GRAF-pop
  • Number of study subjects that have individual level data available through Authorized Access: 3142

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

Inclusion criteria for proband

  • Men or women aged 18-60 years
  • Systolic BP 130-160mm Hg and/or diastolic BP 85-100mm Hg
  • Both parents (two-generation nuclear family) or at least one parent (three or more generation family) are available and willing to participate in the study
  • At least one sibling meets eligibility criteria for participation

Inclusion criteria for siblings/spouses/offspring

  • Men or women aged 18-60 years for siblings or aged ≥16 years for offspring
  • Living in the same village with proband

Exclusion criteria for probands/siblings/spouses/offspring

  • Current stage-2 hypertension (systolic BP ≥160mm Hg and/or diastolic BP ≥100mm Hg)
  • Current or recent (less than 1 month before screening visit) use of antihypertensive medications or medications that affect BP
  • Secondary hypertension
  • History of clinical cardiovascular disease, including myocardial infarction, congestive heart failure, stroke and peripheral arterial disease
  • Chronic kidney failure or urinary albumin concentration ≥20 mg/dl
  • Current diabetes (fasting serum glucose ≥126 mg/dl) or use of insulin or oral hypoglycaemic agents
  • Peptic ulcer disease requiring treatment during the previous 2 years
  • Liver disease requiring treatment during the previous 2 years
  • Currently pregnant women
  • Heavy alcohol drinkers (more than 14 drinks per week)
  • Currently adhering to a low-sodium diet
  • Inability or unwillingness to participate or sign informed consent form

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Sequencing Illumina HiSeq X Ten N/A N/A
Selected publications
Diseases/Traits Related to Study (MESH terms)
Authorized Data Access Requests
Study Attribution