Distinct Genetic Loci and Variations in Blood Pressure and Pulse Rate in Europeans and Africans from the UK Biobank

Abstract

AbstractTrans-ancestral variations exist for various anthropometric traits. These traits, including cardiovascular traits, are likely associated with different loci in individuals of different ancestry groups. We assessed the difference in systolic blood pressure, diastolic blood pressure, pulse rate and maximum heart rate among African and European ancestry individuals. Furthermore, we conducted a genome-wide association study of cardiovascular traits in 383,471 Europeans and 5,978 Africans represented in the UK Biobank. Here, we report 2 and 1,202 variants associated with cardiovascular traits in Africans and Europeans, respectively. We identify 2 novel variants in Africans, including rs9388010 located in the GJA1 gene previously associated with numerous cardiomyopathies. Remarkably, we find the associated variants are primarily unique to each ancestry group and map to largely different genes. Through integrative enrichment analyses we find that gene sets within each ancestral group are significantly enriched for pathways and phenotypes related to cardiovascular physiology and disease. Our discoveries provide a better understanding of variations in cardiovascular traits and the different associated variants in Africans and Europeans.