Genetic Epidemiology Network of Arteriopathy (GENOA): GWAS Studies

This substudy phs001401 GENOA GWAS Studies, contains genome-wide genetic variants on a subset of participants in the GENOA Cohorts. A total of 1385 European American and 1263 African American participants from GENOA were genotyped on the Affymetrix Genome-Wide Human SNP Array 6.0 array using the protocol outlined by Affymetrix (Affymetrix, 2007) at the Mayo Clinic in Rochester, Minnesota, or at the Broad Institute for a subset (N=92) of African Americans. Some of the stored blood samples contained DNA of poor quality, and we were unable to genotype these samples using the Affymetrix 6.0 platform. However, we were able to obtain high quality genotyping using the Illumina Human1M-Duo or Human660W-Quad BeadChips (Illumina, 2010) for an additional 123 European Americans and 269 African Americans. For all genotyping platforms used, samples and SNPs with a call rate <95% were removed. Samples demonstrating sex mismatch, duplicate samples, and samples with low identity-by-state with all other samples were also removed. Pedigree information was used as a quality check to identify mislabeled samples. Summary level phenotypes for the GENOA Cohort study participants can be viewed at the top-level study page [phs001238](./study.cgi?study_id=phs001238) GENOA Cohort. Individual level phenotype data and molecular data for all GENOA top-level study and substudies are available by requesting Authorized Access to the GENOA Cohort study [phs001238](./study.cgi?study_id=phs0012380).

The Genetic Epidemiology Network of Arteriopathy (GENOA) is one of four networks in the NHLBI Family-Blood Pressure Program (FBPP). GENOA's long-term objective is to elucidate the genetics of target organ complications of hypertension, including both atherosclerotic and arteriolosclerotic complications involving the heart, brain, kidneys, and peripheral arteries. The longitudinal GENOA Study recruited European-American and African-American sibships with at least 2 individuals with clinically diagnosed essential hypertension before age 60 years. All other members of the sibship were invited to participate regardless of their hypertension status. Participants were diagnosed with hypertension if they had either 1) a previous clinical diagnosis of hypertension by a physician with current anti-hypertensive treatment, or 2) an average systolic blood pressure ≥ 140 mm Hg or diastolic blood pressure ≥ 90 mm Hg based on the second and third readings at the time of their clinic visit.

The Family Blood Pressure Program (FBPP), GENOA's parent program, is an unprecedented collaboration to identify genes influencing blood pressure (BP) levels, hypertension, and its target-organ damage. This program has conducted over 21,000 physical examinations, assembled a shared database of several hundred BP and hypertension-related phenotypic measurements, completed genome-wide linkage analyses for BP, hypertension, and hypertension associated risk factors and complications, and published over 130 manuscripts on program findings. The FBPP emerged from what was initially funded as four independent networks of investigators (HyperGEN, GenNet, SAPPHIRe and GENOA) competing to identify genetic determinants of hypertension in multiple ethnic groups. Realizing the greater likelihood of success through collaboration, the investigators created a single confederation with program-wide and network-specific goals.