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Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

  • Author(s): Hoffmann, Thomas J;
  • Ehret, Georg B;
  • Nandakumar, Priyanka;
  • Ranatunga, Dilrini;
  • Schaefer, Catherine;
  • Kwok, Pui-Yan;
  • Iribarren, Carlos;
  • Chakravarti, Aravinda;
  • Risch, Neil
  • et al.

Published Web Location

https://doi.org/10.1038/ng.3715
Abstract

Longitudinal electronic health records on 99,785 Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort individuals provided 1,342,814 systolic and diastolic blood pressure measurements for a genome-wide association study on long-term average systolic, diastolic, and pulse pressure. We identified 39 new loci among 75 genome-wide significant loci (P ≤ 5 × 10-8), with most replicating in the combined International Consortium for Blood Pressure (ICBP; n = 69,396) and UK Biobank (UKB; n = 152,081) studies. Combining GERA with ICBP yielded 36 additional new loci, with most replicating in UKB. Combining all three studies (n = 321,262) yielded 241 additional genome-wide significant loci, although no replication sample was available for these. All associated loci explained 2.9%, 2.5%, and 3.1% of variation in systolic, diastolic, and pulse pressure, respectively, in GERA non-Hispanic whites. Using multiple blood pressure measurements in GERA doubled the variance explained. A normalized risk score was associated with time to onset of hypertension (hazards ratio = 1.18, P = 8.2 × 10-45). Expression quantitative trait locus analysis of blood pressure loci showed enrichment in aorta and tibial artery.

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