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

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Title: Interethnic analyses of blood pressure loci in populations of East Asian and European descent.
Authors: Takeuchi, F
Akiyama, M
Matoba, N
Katsuya, T
Nakatochi, M
Tabara, Y
Narita, A
Saw, W-Y
Moon, S
Spracklen, CN
Chai, J-F
Kim, Y-J
Zhang, L
Wang, C
Li, H
Li, H
Wu, J-Y
Dorajoo, R
Nierenberg, JL
Wang, YX
He, J
Bennett, DA
Takahashi, A
Momozawa, Y
Hirata, M
Matsuda, K
Rakugi, H
Nakashima, E
Isono, M
Shirota, M
Hozawa, A
Ichihara, S
Matsubara, T
Yamamoto, K
Kohara, K
Igase, M
Han, S
Gordon-Larsen, P
Huang, W
Lee, NR
Adair, LS
Hwang, MY
Lee, J
Chee, ML
Sabanayagam, C
Zhao, W
Liu, J
Reilly, DF
Sun, L
Huo, S
Edwards, TL
Long, J
Chang, L-C
Chen, C-H
Yuan, J-M
Koh, W-P
Friedlander, Y
Kelly, TN
Wei, WB
Xu, L
Cai, H
Xiang, Y-B
Lin, K
Clarke, R
Walters, RG
Millwood, IY
Li, L
Chambers, JC
Kooner, JS
Elliott, P
Van der Harst, P
Chen, Z
Sasaki, M
Shu, X-O
Jonas, JB
He, J
Heng, C-K
Chen, Y-T
Zheng, W
Lin, X
Teo, Y-Y
Tai, E-S
Cheng, C-Y
Wong, TY
Sim, X
Mohlke, KL
Yamamoto, M
Kim, B-J
Miki, T
Nabika, T
Yokota, M
Kamatani, Y
Kubo, M
Kato, N
Item Type: Journal Article
Abstract: 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.
Issue Date: 28-Nov-2018
Date of Acceptance: 29-Oct-2018
ISSN: 2041-1723
Publisher: Nature Publishing Group
Journal / Book Title: Nature Communications
Volume: 9
Copyright Statement: © 2018 The Author(s). Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit
Sponsor/Funder: Medical Research Council (MRC)
National Institute for Health Research
Imperial College Healthcare NHS Trust- BRC Funding
Funder's Grant Number: MR/L01341X/1
Keywords: Science & Technology
Multidisciplinary Sciences
Science & Technology - Other Topics
Asian Continental Ancestry Group
Blood Pressure
Continental Population Groups
European Continental Ancestry Group
Genetic Loci
Genome-Wide Association Study
Linkage Disequilibrium
Polymorphism, Single Nucleotide
International Genomics of Blood Pressure (iGEN-BP) Consortium
MD Multidisciplinary
Publication Status: Published
Article Number: 5052
Appears in Collections:Faculty of Medicine
Epidemiology, Public Health and Primary Care

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