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

被引：86

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：

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

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

页数：12

共 72 条

[41] Expression analysis of asthma candidate genes during human and murine lung development
Melen, Erik
Kho, Alvin T.
Sharma, Sunita
Gaedigk, Roger
Leeder, J. Steven
Mariani, Thomas J.
Carey, Vincent J.
Weiss, Scott T.
Tantisira, Kelan G.
[J]. RESPIRATORY RESEARCH, 2011, 12
[42] DREG, a developmentally regulated G protein-coupled receptor containing two conserved proteolytic cleavage sites
Moriguchi, T
Haraguchi, K
Ueda, N
Okada, M
Furuya, T
Akiyama, T
[J]. GENES TO CELLS, 2004, 9 (06) : 549 - 560
[43] GSTCD and INTS12 Regulation and Expression in the Human Lung
Obeidat, Ma'en
Miller, Suzanne
Probert, Kelly
Billington, Charlotte K.
Henry, Amanda P.
Hodge, Emily
Nelson, Carl P.
Stewart, Ceri E.
Swan, Caroline
Wain, Louise V.
Artigas, Maria Soler
Melen, Erik
Ushey, Kevin
Hao, Ke
Lamontagne, Maxime
Bosse, Yohan
Postma, Dirkje S.
Tobin, Martin D.
Sayers, Ian
Hall, Ian P.
[J]. PLOS ONE, 2013, 8 (09):
[44] AhR and Arnt differentially regulate NF-κB signaling and chemokine responses in human bronchial epithelial cells
Ovrevik, Johan
Lag, Marit
Lecureur, Valerie
Gilot, David
Lagadic-Gossmann, Dominique
Refsnes, Magne
Schwarze, Per E.
Skuland, Tonje
Becher, Rune
Holme, Jorn A.
[J]. CELL COMMUNICATION AND SIGNALING, 2014, 12
[45] Type IV collagen is an activating ligand for the adhesion G protein-coupled receptor GPR126
Paavola, Kevin J.
Sidik, Harwin
Zuchero, J. Bradley
Eckart, Michael
Talbot, William S.
[J]. SCIENCE SIGNALING, 2014, 7 (338)
[46] Familial aggregation and heritability of adult lung function: results from the Busselton Health Study
Palmer, LJ
Knuiman, MW
Divitini, ML
Burton, PR
James, AL
Bartholomew, HC
Ryan, G
Musk, AW
[J]. EUROPEAN RESPIRATORY JOURNAL, 2001, 17 (04) : 696 - 702
[47] Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity
Pei, Yu-Fang
Zhang, Lei
Liu, Yongjun
Li, Jian
Shen, Hui
Liu, Yao-Zhong
Tian, Qing
He, Hao
Wu, Shuyan
Ran, Shu
Han, Yingying
Hai, Rong
Lin, Yong
Zhu, Jingying
Zhu, Xue-Zhen
Papasian, Christopher J.
Deng, Hong-Wen
[J]. HUMAN MOLECULAR GENETICS, 2014, 23 (03) : 820 - 830
[48] Ceramide Synthases Expression and Role of Ceramide Synthase-2 in the Lung: Insight from Human Lung Cells and Mouse Models
Petrache, Irina
Kamocki, Krzysztof
Poirier, Christophe
Pewzner-Jung, Yael
Laviad, Elad L.
Schweitzer, Kelly S.
Van Demark, Mary
Justice, Matthew J.
Hubbard, Walter C.
Futerman, Anthony H.
[J]. PLOS ONE, 2013, 8 (05):
[49] A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci
Pillai, Sreekumar G.
Ge, Dongliang
Zhu, Guohua
Kong, Xiangyang
Shianna, Kevin V.
Need, Anna C.
Feng, Sheng
Hersh, Craig P.
Bakke, Per
Gulsvik, Amund
Ruppert, Andreas
Carlsen, Karin C. Lodrup
Roses, Allen
Anderson, Wayne
Rennard, Stephen I.
Lomas, David A.
Silverman, Edwin K.
Goldstein, David B.
[J]. PLOS GENETICS, 2009, 5 (03)
[50] A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function
Porcu, Eleonora
Medici, Marco
Pistis, Giorgio
Volpato, Claudia B.
Wilson, Scott G.
Cappola, Anne R.
Bos, Steffan D.
Deelen, Joris
den Heijer, Martin
Freathy, Rachel M.
Lahti, Jari
Liu, Chunyu
Lopez, Lorna M.
Nolte, Ilja M.
O'Connell, Jeffrey R.
Tanaka, Toshiko
Trompet, Stella
Arnold, Alice
Bandinelli, Stefania
Beekman, Marian
Bohringer, Stefan
Brown, Suzanne J.
Buckley, Brendan M.
Camaschella, Clara
de Craen, Anton J. M.
Davies, Gail
de Visser, Marieke C. H.
Ford, Ian
Forsen, Tom
Frayling, Timothy M.
Fugazzola, Laura
Goegele, Martin
Hattersley, Andrew T.
Hermus, Ad R.
Hofman, Albert
Houwing-Duistermaat, Jeanine J.
Jensen, Richard A.
Kajantie, Eero
Kloppenburg, Margreet
Lim, Ee M.
Masciullo, Corrado
Mariotti, Stefano
Minelli, Cosetta
Mitchell, Braxton D.
Nagaraja, Ramaiah
Netea-Maier, Romana T.
Palotie, Aarno
Persani, Luca
Piras, Maria G.
Psaty, Bruce M.
[J]. PLOS GENETICS, 2013, 9 (02):

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