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Interethnic analyses of blood pressure loci in populations of East Asian and European descent

Int Genomics Blood Pressure & van der Harst, P., 28-Nov-2018, In : Nature Communications. 9, 16 p., 5052.

Research output: Contribution to journalArticleAcademicpeer-review

Blood pressure (BP) is a major risk factor for cardiovascular disease and more than 200 genetic loci associated with BP are known. Here, we perform a multi-stage genome-wide association study for BP ( max N = 289,038) principally in East Asians and meta-analysis in East Asians and Europeans. We report 19 new genetic loci and ancestry-specific BP variants, conforming to a common ancestry-specific variant association model. At 10 unique loci, distinct non-rare ancestry-specific variants colocalize within the same linkage disequilibrium block despite the significantly discordant effects for the proxy shared variants between the ethnic groups. The genome-wide transethnic correlation of causal-variant effect-sizes is 0.898 and 0.851 for systolic and diastolic BP, respectively. Some of the ancestry-specific association signals are also influenced by a selective sweep. Our results provide new evidence for the role of common ancestry-specific variants and natural selection in ethnic differences in complex traits such as BP.

Original languageEnglish
Article number5052
Number of pages16
JournalNature Communications
Volume9
Publication statusPublished - 28-Nov-2018

    Keywords

  • GENOME-WIDE ASSOCIATION, BODY-MASS INDEX, LINKAGE DISEQUILIBRIUM, CARDIOVASCULAR-DISEASE, FUNCTIONAL ANNOTATION, RARE VARIANTS, COMMON, METAANALYSIS, HERITABILITY, ARCHITECTURE

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