Interethnic analyses of blood pressure loci in populations of East Asian and European descent.pdf (1.9 MB)
Download file

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

Download (1.9 MB)
journal contribution
posted on 15.08.2019, 11:41 by F Takeuchi, M Akiyama, N Matoba, T Katsuya, M Nakatochi, Y Tabara, A Narita, W-Y Saw, S Moon, CN Spracklen, J-F Chai, Y-J Kim, L Zhang, C Wang, H Li, J-Y Wu, R Dorajoo, JL Nierenberg, YX Wang, J He, DA Bennett, A Takahashi, Y Momozawa, M Hirata, K Matsuda, H Rakugi, E Nakashima, M Isono, M Shirota, A Hozawa, S Ichihara, T Matsubara, K Yamamoto, K Kohara, M Igase, S Han, P Gordon-Larsen, W Huang, NR Lee, LS Adair, MY Hwang, J Lee, ML Chee, C Sabanayagam, W Zhao, J Liu, DF Reilly, L Sun, S Huo, TL Edwards, J Long, L-C Chang, C-H Chen, J-M Yuan, W-P Koh, Y Friedlander, TN Kelly, W Bin Wei, L Xu, H Cai, Y-B Xiang, K Lin, R Clarke, RG Walters, IY Millwood, L Li, JC Chambers, JS Kooner, P Elliott, P van der Harst, International Genomics of Blood Pressure (iGEN-BP) Consortium, Z Chen, M Sasaki, X-O Shu, JB Jonas, C-K Heng, Y-T Chen, W Zheng, X Lin, Y-Y Teo, E-S Tai, C-Y Cheng, TY Wong, X Sim, KL Mohlke, M Yamamoto, B-J Kim, T Miki, T Nabika, M Yokota, Y Kamatani, M Kubo, N Kato
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.


We acknowledge the use of data from the International Consortium for Blood Pressure Genome-Wide Association Studies 3 and the AGEN-height Consortium 42. This research has been conducted using the UK Biobank Resource 14. Additional acknowledgements can be found in Supplementary Note 1.



Nature Communications, 2018, 9:5052

Author affiliation

/Organisation/COLLEGE OF LIFE SCIENCES/School of Medicine/Department of Cardiovascular Sciences


VoR (Version of Record)

Published in

Nature Communications


Nature Research (part of Springer Nature)



Acceptance date


Copyright date


Available date


Publisher version


Supplementary Information accompanies this paper at Full summary statistics relating to the GWAS meta-analysis has been deposited at the European Genome-phenome Archive (EGA), which is hosted by the EBI and the CRG, under accession number EGAS00001002991. Further information about EGA can be found on “The European Genome-phenome Archive of human data consented for biomedical research” ( All relevant data are available from the authors.