Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

被引：91

作者：

Artigas, Maria Soler ^{[1
]}

Wain, Louise V. ^{[1
]}

Miller, Suzanne ^{[2
]}

Kheirallah, Abdul Kader ^{[2
]}

Huffman, Jennifer E. ^{[3
]}

Ntalla, Ioanna ^{[1
]}

Shrine, Nick ^{[1
]}

Obeidat, Ma'en ^{[4
]}

Trochet, Holly ^{[3
,5
,6
,7
,8
]}

McArdle, Wendy L. ^{[9
]}

Alves, Alexessander Couto ^{[10
]}

Hui, Jennie ^{[11
,12
,13
,14
]}

Zhao, Jing Hua ^{[15
]}

Joshi, Peter K. ^{[16
]}

Teumer, Alexander ^{[17
,18
]}

Albrecht, Eva ^{[19
]}

Imboden, Medea ^{[20
,21
]}

Rawal, Rajesh ^{[19
,22
,23
]}

Lopez, Lorna M. ^{[24
,25
]}

Marten, Jonathan ^{[3
]}

Enroth, Stefan ^{[26
]}

Surakka, Ida ^{[27
,28
]}

Polasek, Ozren ^{[16
,29
]}

Lyytikainen, Leo-Pekka ^{[30
,31
]}

Granell, Raquel ^{[9
]}

Hysi, Pirro G. ^{[32
]}

Flexeder, Claudia ^{[33
]}

Mahajan, Anubha ^{[34
]}

Beilby, John ^{[11
,12
,35
]}

Bosse, Yohan ^{[36
]}

Brandsma, Corry-Anke ^{[37
]}

Campbell, Harry ^{[16
]}

Gieger, Christian ^{[19
,22
,23
]}

Glaeser, Sven ^{[38
]}

Gonzalez, Juan R. ^{[39
,40
,41
]}

Grallert, Harald ^{[22
]}

Hammond, Chris J. ^{[32
]}

Harris, Sarah E. ^{[24
,42
]}

Hartikainen, Anna-Liisa ^{[43
]}

Heliovaara, Markku ^{[28
]}

Henderson, John ^{[9
]}

Hocking, Lynne ^{[5
,6
,7
,8
,44
]}

Horikoshi, Momoko ^{[34
,45
]}

Hutri-Kahonen, Nina ^{[46
,47
]}

Ingelsson, Erik ^{[34
,48
,49
]}

Johansson, Asa ^{[26
,50
]}

Kemp, John P. ^{[9
,51
,52
]}

Kolcic, Ivana ^{[29
]}

Kumar, Ashish ^{[20
,21
,34
,53
]}

Lind, Lars ^{[54
]}

机构：

[1] Univ Leicester, Dept Hlth Sci, Genet Epidemiol Grp, Leicester LE1 7RH, Leics, England

[2] Univ Nottingham, Queens Med Ctr, Div Resp Med, Nottingham NG7 2RD, England

[3] Univ Edinburgh, MRC Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh EH8 9AD, Midlothian, Scotland

[4] Univ British Columbia, Ctr Heart Lung Innovat, St Pauls Hosp, Vancouver, BC V6Z 1Y6, Canada

[5] Generat Scotland, Aberdeen, Scotland

[6] Generat Scotland, Dundee, Scotland

[7] Generat Scotland, Edinburgh, Midlothian, Scotland

[8] Generat Scotland, Glasgow EH4 2XU, Lanark, Scotland

[9] Univ Bristol, Sch Social & Community Med, Bristol BS8 1TH, Avon, England

[10] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, MRC PHE Ctr Environm & Hlth, Dept Epidemiol & Biostat, London SW7 2AZ, England

[11] Busselton Populat Med Res Inst, Busselton, WA 6280, Australia

[12] Sir Charles Gairdner Hosp, PathWest Lab Med WA, Nedlands, WA 6009, Australia

[13] Univ Western Australia, Sch Populat Hlth, Nedlands, WA 6009, Australia

[14] Univ Western Australia, Sch Pathol & Lab Med, Nedlands, WA 6009, Australia

[15] Univ Cambridge, Sch Clin Med, Inst Metab Sci, MRC Epidemiol Unit, Cambridge CB2 0SL, England

[16] Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Edinburgh EH8 9AD, Midlothian, Scotland

[17] Univ Med Greifswald, SHIP Clin Epidemiol Res, Community Med, D-17489 Greifswald, Germany

[18] Univ Med Greifswald, Interfaculty Inst Genet & Funct Gen, Dept Genet & Funct Gen, D-17489 Greifswald, Germany

[19] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Genet Epidemiol, D-85764 Neuherberg, Germany

[20] Swiss Trop & Publ Hlth Inst, CH-4051 Basel, Switzerland

[21] Univ Basel, CH-4001 Basel, Switzerland

[22] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Res Unit Mol Epidemiol, D-85764 Neuherberg, Germany

[23] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Epidemiol 2, D-85764 Neuherberg, Germany

[24] Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9AD, Midlothian, Scotland

[25] Univ Edinburgh, Dept Psychol, Edinburgh EH8 9AD, Midlothian, Scotland

[26] Uppsala Univ, SciLifeLab Uppsala, Biomed Ctr, Dept Immunol Genet & Pathol, S-75123 Uppsala, Sweden

[27] Univ Helsinki, Inst Mol Med Finland FIMM, FI-00014 Helsinki, Finland

[28] Natl Inst Hlth & Welf THL, FI-00271 Helsinki, Finland

[29] Univ Split, Dept Publ Hlth, Fac Med, Split 21000, Croatia

[30] Fimlab Labs, Dept Clin Chem, FI-33101 Tampere, Finland

[31] Univ Tampere, Sch Med, Dept Clin Chem, FI-33520 Tampere, Finland

[32] Kings Coll London, KCL Dept Twins Res & Genet Epidemiol, London WC2R 2LS, England

[33] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Epidemiol 1, D-85764 Neuherberg, Germany

[34] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[35] Univ Western Australia, Sch Pathol & Lab Med, Nedlands, WA 6009, Australia

[36] Univ Laval, Dept Mol Med, Inst Univ Cardiol & Pneumol Quebec, Quebec City G1V 0A6, PQ, Canada

[37] Univ Groningen, Univ Med Ctr Groningen, Dept Pathol & Med Biol, NL-9700 Groningen, Netherlands

[38] Univ Med Greifswald, Dept Internal Med B, Pneumol Cardiol Intens Care Weaning Field Res, Pneumol Epidemiol, D-17489 Greifswald, Germany

[39] Ctr Res Environm Epidemiol CREAL, E-08003 Barcelona, Spain

[40] CIBERESP, Madrid 28029, Spain

[41] Pompeu Fabra Univ UPF, Barcelona 08002, Catalonia, Spain

[42] Univ Edinburgh, Ctr Genom & Expt Med, Edinburgh EH8 9AD, Midlothian, Scotland

[43] Oulu Univ, MRC, Oulu Univ Hosp, Dept Obstet & Gynecol, Oulu 90220, Finland

[44] Univ Aberdeen, Div Appl Hlth Sci, Aberdeen AB24 3FX, Scotland

[45] Univ Oxford, Oxford Ctr Diabet Endocrinol & Metab, Oxford OX1 2JD, England

[46] Tampere Univ Hosp, Dept Pediat, Tampere 33521, Finland

[47] Univ Tampere, Sch Med, Dept Pediat, FI-33520 Tampere, Finland

[48] Uppsala Univ, Dept Med Sci Mol Epidemiol & Sci, Life Lab, S-75123 Uppsala, Sweden

[49] Stanford Univ, Sch Med, Div Cardiovasc Med, Dept Med, Stanford, CA 94305 USA

[50] Uppsala Univ, Uppsala Clin Res Ctr, S-75123 Uppsala, Sweden

来源：

NATURE COMMUNICATIONS | 2015年 / 6卷

基金：

英国生物技术与生命科学研究理事会; 英国医学研究理事会; 瑞士国家科学基金会; 英国惠康基金; 瑞典研究理事会; 欧洲研究理事会; 芬兰科学院; 美国国家卫生研究院;

关键词：

OBSTRUCTIVE PULMONARY-DISEASE; WIDE ASSOCIATION; SUSCEPTIBILITY LOCUS; GENE-EXPRESSION; VARIANTS; HERITABILITY; METAANALYSIS; INSIGHTS;

D O I：

10.1038/ncomms9658

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：

Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P < 5 x 10(-8)) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.

引用

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