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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, Freeze 5b (GRCh38) and Freeze 8 (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 5b, Phases 1 and 2" and "TOPMed Whole Genome Sequencing Project - Freeze 8, Phases 1-4". Please check the study list at the top of each of these methods documents to determine whether it applies to this study accession.

The THRV-TOPMed study consists of three cohorts: The SAPPHIRe Family cohort (N=1,271), TSGH (Tri-Service General Hospital, a hospital-based cohort, N=160), and TCVGH (Taichung Veterans General Hospital, another hospital-based cohort, N=922), all based in Taiwan. 1,271 subjects were previously recruited as part of the NHLBI-sponsored SAPPHIRe Network (which is part of the Family Blood Pressure Program, FBPP). The SAPPHIRe families were recruited to have two or more hypertensive sibs, some families also with one normotensive/hypotensive sib. The two Hospital-based cohorts (TSGH and TCVGH) both recruited unrelated subjects with different recruitment criteria (matched with SAPPHIRe subjects for age, sex, and BMI category).

Authorized Access
Publicly Available Data (Public ftp)
Study Inclusion/Exclusion Criteria

Below are the inclusion and exclusion criteria for each of the three cohorts comprising THRV-TOPMed. All 2,353 THRV subjects were selected for whole genome sequencing through the NHLBI TOPMed WGS program.

  • SAPPHIRe Families:
    • At least 2 hypertensive (HTN) biological full sibs in the sibship
    • Age > 35 (Probands/HTN sibs only)
    • Age of onset/diagnosis for HTN < 65 years (Probands/HTN sibs only)
    • BMI < 35 (Probands/HTN sibs only)
    • Exclusion criteria included diabetes, kidney disease, cancer, liver cirrhosis, or pregnancy
  • Hypertensive Subjects in TSGH and TCVGH: Selected from Hospital populations in Taiwan with similar characteristics as hypertensive probands in SAPPHIRe families, including:
    • Age > 35
    • BMI < 35
    • Exclusion criteria as stated above
    • Unrelated subjects
  • Non-Hypertensive Subjects in TSGH and TCVGH: Selected from Hospital populations in Taiwan:
    • No hypertension diagnosis
    • SBP ≤ 130 OR DBP ≤ 90
    • Matched as closely as possible with SAPPHIRe subjects for age, sex, and BMI
    • Unrelated subjects

Study History

The parent SAPPHIRe study, launched in 1995, includes sibships that include at least 2 HTN cases and a normotensive/hypotensive sib when available. 1,271 SAPPHIRe subjects were included as part of the THRV study (funded by NHLBI R01HL111249); we also added an additional 1,082 unrelated subjects from Taiwan hospital sources. WGS sequencing is performed on all 2,353 samples (funded by NHLBI R01HL111249-04S1).

Selected publications
Diseases/Traits Related to Study (MeSH terms)
Authorized Data Access Requests
Study Attribution
  • Principal Investigator
    • DC Rao, PhD. Washington University, St. Louis, MO, USA.
  • Co-Principal Investigator
    • Ida Chen, PhD. LA BioMed at Harbor UCLA, Torrance, CA, USA.
  • Co-Investigators
    • James Hixson, PhD. University of Texas Health Sciences Center at Houston, Houston, TX, USA.
    • Jerome Rotter, MD. LA BioMed at Harbor UCLA, Torrance, CA, USA.
  • SAPPHIRe Principal Investigator
    • Wayne H-H Sheu, MD, PhD. Division of Endocrinology and Metabolism, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.
  • THRV Funding Source
    • R01HL111249. National Institutes of Health, Bethesda, MD, USA.
  • THRV WGS Funding Source
    • R01HL111249-04S1. National Institutes of Health, Bethesda, MD, USA.
  • SAPPHIRe Funding Source
    • U01HL54527. National Institutes of Health, Bethesda, MD, USA.
    • U01HL54498. National Institutes of Health, Bethesda, MD, USA.
    • Taiwan funds. Wayne Sheu, Division of Endocrinology and Metabolism, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.
  • Hospital-Based Cohorts Funding Source
    • Taiwan funds. Wayne Sheu, Division of Endocrinology and Metabolism, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.
  • Institution
    • Washington University, St. Louis, MO, USA.
    • LA BioMed at Harbor UCLA, Torrance, CA, USA.
    • University of Texas in Houston, Houston, TX, USA.
    • National Health Research Institutes, Zhunan, Taiwan.
    • Taichung Veterans General Hospital, Taichung, Taiwan.
    • Taipei Veterans General Hospital, Taipei City, Taiwan.
    • Tri-Service General Hospital, Taipei City, Taiwan.
    • National Taiwan University, Taipei, Taiwan.
    • Baylor University, Waco, TX, USA.