Format

Send to

Choose Destination
Nat Commun. 2018 Nov 28;9(1):5052. doi: 10.1038/s41467-018-07345-0.

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

Author information

1
Medical Genomics Center, National Center for Global Health and Medicine, Tokyo, 162-8655, Japan.
2
Department of Gene Diagnostics and Therapeutics, Research Institute, National Center for Global Health and Medicine, Tokyo, 162-8655, Japan.
3
Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, 230-0045, Japan.
4
Department of Clinical Gene Therapy, Osaka University Graduate School of Medicine, Suita, 565-0871, Japan.
5
Department of Geriatric and General Medicine, Osaka University Graduate School of Medicine, Suita, 565-0871, Japan.
6
Data Coordinating Center, Department of Advanced Medicine, Nagoya University Hospital, Nagoya, 466-8560, Japan.
7
Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, 606-8507, Japan.
8
Tohoku Medical Megabank Organization, Tohoku University, Sendai, 980-8573, Japan.
9
Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, 117549, Singapore.
10
Life Sciences Institute, National University of Singapore, Singapore, 117456, Singapore.
11
Division of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, 363-951, Republic of Korea.
12
Department of Genetics, University of North Carolina, Chapel Hill, NC 27514, USA.
13
Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, 168751, Singapore.
14
Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, 138672, Singapore.
15
Duke-NUS Medical School, Singapore, 169857, Singapore.
16
Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
17
CAS Key Laboratory of Nutrition, Metabolism and Food safety, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of the Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.
18
State Key Laboratory of Oncogene and Related Genes and Department of Epidemiology, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200025, China.
19
Institute of Biomedical Sciences, Academia Sinica, Taipei, 115, Taiwan.
20
School of Chinese Medicine, China Medical University, Taichung, 40402, Taiwan.
21
Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA 70112, USA.
22
Beijing Institute of Ophthalmology, Beijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
23
Division of Epidemiology, Vanderbilt University Medical Center, Nashville, TN 37203-1738, USA.
24
Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, OX3 7LF, UK.
25
Department of Genomic Medicine, Research Institute, National Cerebral and Cardiovascular Center, Osaka, 565-0873, Japan.
26
Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, 230-0045, Japan.
27
Institute of Medical Science, The University of Tokyo, Tokyo, 108-8639, Japan.
28
Graduate School of Frontier Sciences, The University of Tokyo, Kashiwa, 277-8561, Japan.
29
Division of Endocrinology and Diabetes, Department of Internal Medicine, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan.
30
Department of Diabetes and Endocrinology, Chubu Rosai Hospital, Nagoya, 455-8530, Japan.
31
Department of Environmental and Preventive Medicine, Jichi Medical University School of Medicine, Shimotsuke, 329-0498, Japan.
32
Department of Internal Medicine, School of Dentistry, Aichi Gakuin University, Nagoya, 470-0195, Japan.
33
Department of Medical Biochemistry, Kurume University School of Medicine, Kurume, 830-0011, Japan.
34
Faculty of Collaborative Regional Innovation, Ehime University, Matsuyama, 790-8577, Ehime, Japan.
35
Department of Geriatric Medicine, Ehime University Graduate School of Medicine, Toon, 791-0295, Ehime, Japan.
36
Department of Nutrition, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
37
Carolina Population Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27516, USA.
38
Department of Genetics, Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center and Shanghai Industrial Technology Institute (SITI), Shanghai, 201203, China.
39
USC-Office of Population Studies Foundation, University of San Carlos, Cebu City, 6000, Philippines.
40
Department of Anthropology, Sociology and History, University of San Carlos, Cebu City, 6000, Philippines.
41
Ophthalmology & Visual Sciences Academic Clinical Program (Eye ACP), Duke-NUS Medical School, Singapore, 169857, Singapore.
42
Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 119228, Singapore.
43
Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 117597, Singapore.
44
Merck Sharp Dohme Corp, Kenilworth, NJ 07033, USA.
45
Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
46
Division of Cancer Control and Population Sciences, UPMC Hillman Cancer, University of Pittsburgh, Pittsburgh, PA 15232, USA.
47
Health Services and Systems Research, Duke-NUS Medical School, Singapore, 169857, Singapore.
48
Unit of Epidemiology, Hebrew University-Hadassah Braun School of Public Health, Jerusalem, P.O. Box 12272, Israel.
49
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
50
MRC Population Health Research Unit, Nuffield Department of Population Health, University of Oxford, Oxford, OX3 7LF, UK.
51
Chinese Academy of Medical Sciences, Beijing, 100006, China.
52
Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, 100191, China.
53
Department of Epidemiology and Biostatistics, Imperial College London, London, SW7 2AZ, UK.
54
National Heart and Lung Institute, Imperial College London, London, SW7 2AZ, UK.
55
Medical Research Council-Public Health England (MRC-PHE) Centre for Environment and Health, Department of Epidemiology and Biostatistics, School of Public Health, Faculty of Medicine, Imperial College London, London, SW7 2AZ, UK.
56
Imperial College Biomedical Research Centre, Imperial College London, London, SW7 2AZ, UK.
57
UK-Dementia Research Institute at Imperial College London, London, SW7 2AZ, UK.
58
National Institute for Health Research (NIHR) Health Protection Research Unit on Health Impacts of Environmental Hazards, London, SW7 2AZ, UK.
59
Health Data Research UK-London, London, UK.
60
Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, 9700 RB, Netherlands.
61
Iwate Tohoku Medical Megabank Organization, Iwate, 028-3694, Japan.
62
Department of Ophthalmology, Medical Faculty Mannheim, University Heidelberg, Germany, Mannheim, 68167, Germany.
63
Department of Medicine, Tulane University School of Medicine, New Orleans, LA 70112, LA, USA.
64
Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 119228, Singapore.
65
Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, 119228, Singapore.
66
NUS Graduate School for Integrative Science and Engineering, National University of Singapore, Singapore, 119077, Singapore.
67
Department of Functional Pathology, Shimane University Faculty of Medicine, Izumo, 693-0021, Japan.
68
Department of Genome Science, School of Dentistry, Aichi Gakuin University, Nagoya, 464-8650, Japan.
69
Kyoto-McGill International Collaborative School in Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, 606-8501, Japan.
70
RIKEN Center for Integrative Medical Sciences, Yokohama, 230-0045, Japan.
71
Medical Genomics Center, National Center for Global Health and Medicine, Tokyo, 162-8655, Japan. nokato@ri.ncgm.go.jp.
72
Department of Gene Diagnostics and Therapeutics, Research Institute, National Center for Global Health and Medicine, Tokyo, 162-8655, Japan. nokato@ri.ncgm.go.jp.

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.

PMID:
30487518
PMCID:
PMC6261994
DOI:
10.1038/s41467-018-07345-0
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center