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

被引：75

作者：

Takeuchi, Fumihiko ^{[1
,2
]}

Akiyama, Masato ^{[3
]}

Matoba, Nana ^{[3
]}

Katsuya, Tomohiro ^{[4
,5
]}

Nakatochi, Masahiro ^{[6
]}

Tabara, Yasuharu ^{[7
]}

Narita, Akira ^{[8
]}

Saw, Woei-Yuh ^{[9
,10
,11
]}

Moon, Sanghoon ^{[12
]}

Spracklen, Cassandra N. ^{[13
]}

Chai, Jin-Fang ^{[9
,10
]}

Kim, Young-Jin ^{[12
]}

Zhang, Liang ^{[14
]}

Wang, Chaolong ^{[15
,16
,17
]}

Li, Huaixing ^{[18
]}

Li, Honglan ^{[19
,20
]}

Wu, Jer-Yuarn ^{[21
,22
]}

Dorajoo, Rajkumar ^{[15
]}

Nierenberg, Jovia L. ^{[23
]}

Wang, Ya Xing ^{[24
]}

He, Jing ^{[25
]}

Bennett, Derrick A. ^{[26
,27
]}

Takahashi, Atsushi ^{[3
,28
]}

Momozawa, Yukihide ^{[29
]}

Hirata, Makoto ^{[30
]}

Matsuda, Koichi ^{[31
]}

Rakugi, Hiromi ^{[5
]}

Nakashima, Eitaro ^{[32
,33
]}

Isono, Masato ^{[2
]}

Shirota, Matsuyuki ^{[8
]}

Hozawa, Atsushi ^{[8
]}

Ichihara, Sahoko ^{[34
]}

Matsubara, Tatsuaki ^{[35
]}

Yamamoto, Ken ^{[36
]}

Kohara, Katsuhiko ^{[37
]}

Igase, Michiya ^{[38
]}

Han, Sohee ^{[12
]}

Gordon-Larsen, Penny ^{[39
,40
]}

Huang, Wei ^{[41
,42
]}

Lee, Nanette R. ^{[43
,44
]}

Adair, Linda S. ^{[39
,40
]}

Hwang, Mi Yeong ^{[12
]}

Lee, Juyoung ^{[12
]}

Chee, Miao Li ^{[14
]}

Sabanayagam, Charumathi ^{[14
,45
,46
]}

Zhao, Wanting ^{[14
,16
]}

Liu, Jianjun ^{[15
,47
]}

Reilly, Dermot F. ^{[48
]}

Sun, Liang ^{[18
]}

Huo, Shaofeng ^{[18
]}

机构：

[1] Natl Ctr Global Hlth & Med, Med Genom Ctr, Tokyo 1628655, Japan

[2] Natl Ctr Global Hlth & Med, Res Inst, Dept Gene Diagnost & Therapeut, Tokyo 1628655, Japan

[3] RIKEN, Ctr Integrat Med Sci, Lab Stat Anal, Yokohama, Kanagawa 2300045, Japan

[4] Osaka Univ, Grad Sch Med, Dept Clin Gene Therapy, Suita, Osaka 5650871, Japan

[5] Osaka Univ, Grad Sch Med, Dept Geriatr & Gen Med, Suita, Osaka 5650871, Japan

[6] Nagoya Univ Hosp, Dept Adv Med, Data Coordinating Ctr, Nagoya, Aichi 4668560, Japan

[7] Kyoto Univ, Grad Sch Med, Ctr Genom Med, Kyoto 6068507, Japan

[8] Tohoku Univ, Tohoku Med Megabank Org, Sendai, Miyagi 9808573, Japan

[9] Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117549, Singapore

[10] Natl Univ Hlth Syst, Singapore 117549, Singapore

[11] Natl Univ Singapore, Life Sci Inst, Singapore 117456, Singapore

[12] Natl Inst Hlth, Div Genome Res, Ctr Genome Sci, Cheongwon Gun 363951, Chungcheongbuk, South Korea

[13] Univ N Carolina, Dept Genet, Chapel Hill, NC 27514 USA

[14] Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore 168751, Singapore

[15] Agcy Sci Technol & Res, Genome Inst Singapore, Singapore 138672, Singapore

[16] Duke NUS Med Sch, Singapore 169857, Singapore

[17] Huazhong Univ Sci & Technol, Sch Publ Hlth, Tongji Med Coll, Dept Epidemiol & Biostat, Wuhan 430030, Hubei, Peoples R China

[18] Chinese Acad Sci, Univ Chinese Acad Sci, CAS Key Lab Nutr Metab & Food Safety, Shanghai Inst Nutr & Hlth,Shanghai Inst Biol Sci, Shanghai 200031, Peoples R China

[19] Shanghai Jiao Tong Univ, Sch Med, State Key Lab Oncogene & Related Genes, Shanghai Canc Inst,Renji Hosp, Shanghai 200025, Peoples R China

[20] Shanghai Jiao Tong Univ, Sch Med, Dept Epidemiol, Shanghai Canc Inst,Renji Hosp, Shanghai 200025, Peoples R China

[21] Acad Sinica, Inst Biomed Sci, Taipei 115, Taiwan

[22] China Med Univ, Sch Chinese Med, Taichung 40402, Taiwan

[23] Tulane Univ, Sch Publ Hlth & Trop Med, Dept Epidemiol, New Orleans, LA 70112 USA

[24] Capital Med Univ, Beijing Tongren Hosp, Beijing Key Lab Ophthalmol & Visual Sci, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing 100730, Peoples R China

[25] Vanderbilt Univ, Med Ctr, Div Epidemiol, Nashville, TN 37203 USA

[26] Univ Oxford, Nuffield Dept Populat Hlth, Clin Trial Serv Unit, Oxford OX3 7LF, England

[27] Univ Oxford, Nuffield Dept Populat Hlth, Epidemiol Studies Unit, Oxford OX3 7LF, England

[28] Natl Cerebral & Cardiovasc Ctr, Res Inst, Dept Genom Med, Osaka 5650873, Japan

[29] RIKEN, Ctr Integrat Med Sci, Lab Genotyping Dev, Yokohama, Kanagawa 2300045, Japan

[30] Univ Tokyo, Inst Med Sci, Tokyo 1088639, Japan

[31] Univ Tokyo, Grad Sch Frontier Sci, Kashiwa, Chiba 2778561, Japan

[32] Nagoya Univ, Grad Sch Med, Dept Internal Med, Div Endocrinol & Diabet, Nagoya, Aichi 4668550, Japan

[33] Chubu Rosai Hosp, Dept Diabet & Endocrinol, Nagoya, Aichi 4558530, Japan

[34] Jichi Med Univ, Sch Med, Dept Environm & Prevent Med, Shimotsuke 3290498, Japan

[35] Aichi Gakuin Univ, Sch Dent, Dept Internal Med, Nagoya, Aichi 4700195, Japan

[36] Kurume Univ, Sch Med, Dept Med Biochem, Kurume, Fukuoka 8300011, Japan

[37] Ehime Univ, Fac Collaborat Reg Innovat, Matsuyama, Ehime 7908577, Japan

[38] Ehime Univ, Grad Sch Med, Dept Geriatr Med, Toon, Ehime 7910295, Japan

[39] Univ N Carolina, Gillings Sch Global Publ Hlth, Dept Nutr, Chapel Hill, NC 27599 USA

[40] Univ N Carolina, Carolina Populat Ctr, Chapel Hill, NC 27516 USA

[41] Chinese Natl Human Genome Ctr, Shanghai MOST Key Lab Hlth & Dis Genom, Dept Genet, Shanghai 201203, Peoples R China

[42] Shanghai Ind Technol Inst, Shanghai 201203, Peoples R China

[43] Univ San Carlos, USC Off Populat Studies Fdn, Cebu 6000, Philippines

[44] Univ San Carlos, Dept Anthropol Sociol & Hist, Cebu 6000, Philippines

[45] Duke NUS Med Sch, Ophthalmol & Visual Sci Acad Clin Program Eye ACP, Singapore 169857, Singapore

[46] Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Ophthalmol, Singapore 119228, Singapore

[47] Natl Univ Singapore, Yong Loo Lin Sch Med, Singapore 117597, Singapore

[48] Merck Sharp Dohme Corp, Kenilworth, NJ 07033 USA

[49] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Epidemiol, Pittsburgh, PA 15261 USA

[50] Univ Pittsburgh, UPMC Hillman Canc, Div Canc Control & Populat Sci, Pittsburgh, PA 15232 USA

来源：

NATURE COMMUNICATIONS | 2018年 / 9卷

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

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

D O I：

10.1038/s41467-018-07345-0

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页数：16

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