NHLBI TOPMed: Rare Variants for Hypertension in Taiwan Chinese (THRV)

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).]]>
The THRV-TOPMed Study DescriptionTHRV-TOPMed: Description of the sources of the dataTOPMed Whole Genome Sequencing Methods: Freeze 8TOPMed Whole Genome Sequencing Methods: Freeze 9Below 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 ]]>
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).]]>