Variants in FAM13A are associated with chronic obstructive pulmonary disease

被引：305

作者：

Cho, Michael H. ^{[1
,2
]}

Boutaoui, Nadia ^{[1
]}

Klanderman, Barbara J. ^{[1
]}

Sylvia, Jody S. ^{[1
]}

Ziniti, John P. ^{[1
]}

Hersh, Craig P. ^{[1
,2
]}

DeMeo, Dawn L. ^{[1
,2
]}

Hunninghake, Gary M. ^{[1
,2
]}

Litonjua, Augusto A. ^{[1
,2
]}

Sparrow, David ^{[3
,4
,5
]}

Lange, Christoph ^{[6
]}

Won, Sungho ^{[6
]}

Murphy, James R. ^{[7
]}

Beaty, Terri H. ^{[8
]}

Regan, Elizabeth A. ^{[7
]}

Make, Barry J. ^{[7
]}

Hokanson, John E. ^{[9
]}

Crapo, James D. ^{[7
]}

Kong, Xiangyang ^{[10
]}

Anderson, Wayne H. ^{[11
]}

Tal-Singer, Ruth ^{[10
]}

Lomas, David A. ^{[12
]}

Bakke, Per ^{[13
,14
]}

Gulsvik, Amund ^{[13
,14
]}

Pillai, Sreekumar G. ^{[11
]}

Silverman, Edwin K. ^{[1
,2
]}

机构：

[1] Brigham & Womens Hosp, Channing Lab, Boston, MA 02115 USA

[2] Brigham & Womens Hosp, Div Pulm & Crit Care Med, Dept Med, Boston, MA 02115 USA

[3] Vet Adm Boston Healthcare Syst, Boston, MA USA

[4] Boston Univ, Sch Publ Hlth, Boston, MA USA

[5] Boston Univ, Sch Med, Boston, MA 02118 USA

[6] Harvard Univ, Sch Publ Hlth, Boston, MA 02115 USA

[7] Natl Jewish Med & Res Ctr, Denver, CO USA

[8] Johns Hopkins Sch Publ Hlth, Baltimore, MD USA

[9] Univ Colorado Denver, Dept Epidemiol, Colorado Sch Publ Hlth, Aurora, CO USA

[10] GlaxoSmithKline Res & Dev Ltd, King Of Prussia, PA USA

[11] GlaxoSmithKline Res & Dev Ltd, Res Triangle Pk, NC USA

[12] Univ Cambridge, Cambridge Inst Med Res, Cambridge, England

[13] Haukeland Hosp, N-5021 Bergen, Norway

[14] Univ Bergen, Inst Med, Bergen, Norway

来源：

NATURE GENETICS | 2010年 / 42卷 / 03期

基金：

美国国家卫生研究院; 美国医疗保健研究与质量局;

关键词：

GENE-EXPRESSION;

D O I：

10.1038/ng.535

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We performed a genome-wide association study for chronic obstructive pulmonary disease (COPD) in three population cohorts, including 2,940 cases and 1,380 controls who were current or former smokers with normal lung function. We identified a new susceptibility locus at 4q22.1 in FAM13A and replicated this association in one case-control group (n = 1,006) and two family-based cohorts (n = 3,808) (rs7671167, combined P = 1.2 x 10(-11), combined odds ratio in case-control studies 0.76, 95% confidence interval 0.69-0.83).

引用

页码：200 / 202

页数：3

共 15 条

[1] NORMATIVE AGING STUDY - INTERDISCIPLINARY AND LONGITUDINAL STUDY OF HEALTH AND AGING
BELL, B
ROSE, CL
DAMON, A
[J]. AGING AND HUMAN DEVELOPMENT, 1972, 3 (01): : 5 - 17
[2] Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
Burton, Paul R.
Clayton, David G.
Cardon, Lon R.
Craddock, Nick
Deloukas, Panos
Duncanson, Audrey
Kwiatkowski, Dominic P.
McCarthy, Mark I.
Ouwehand, Willem H.
Samani, Nilesh J.
Todd, John A.
Donnelly, Peter
Barrett, Jeffrey C.
Davison, Dan
Easton, Doug
Evans, David
Leung, Hin-Tak
Marchini, Jonathan L.
Morris, Andrew P.
Spencer, Chris C. A.
Tobin, Martin D.
Attwood, Antony P.
Boorman, James P.
Cant, Barbara
Everson, Ursula
Hussey, Judith M.
Jolley, Jennifer D.
Knight, Alexandra S.
Koch, Kerstin
Meech, Elizabeth
Nutland, Sarah
Prowse, Christopher V.
Stevens, Helen E.
Taylor, Niall C.
Walters, Graham R.
Walker, Neil M.
Watkins, Nicholas A.
Winzer, Thilo
Jones, Richard W.
McArdle, Wendy L.
Ring, Susan M.
Strachan, David P.
Pembrey, Marcus
Breen, Gerome
St Clair, David
Caesar, Sian
Gordon-Smith, Katherine
Jones, Lisa
Fraser, Christine
Green, Elain K.
[J]. NATURE, 2007, 447 (7145) : 661 - 678
[3] Gene expression programs in response to hypoxia: Cell type specificity and prognostic significance in human cancers
Chi, JT
Wang, Z
Nuyten, DSA
Rodriguez, EH
Schaner, ME
Salim, A
Wang, Y
Kristensen, GB
Helland, A
Borresen-Dale, AL
Giaccia, A
Longaker, MT
Hastie, T
Yang, GP
van de Vijver, MJ
Brown, PO
[J]. PLOS MEDICINE, 2006, 3 (03) : 395 - 409
[4] Cloning and characterization of FAM13A1 -: a gene near a milk protein QTL on BTA6:: evidence for population-wide linkage disequilibrium in Israeli Holsteins
Cohen, M
Reichenstein, M
Everts-van der Wind, A
Heon-Lee, J
Shani, M
Lewin, HA
Weller, JI
Ron, M
Seroussi, E
[J]. GENOMICS, 2004, 84 (02) : 374 - 383
[5] Fishman A, 2003, NEW ENGL J MED, V348, P2059
[6] Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function
Hancock, Dana B.
Eijgelsheim, Mark
Wilk, Jemma B.
Gharib, Sina A.
Loehr, Laura R.
Marciante, Kristin D.
Franceschini, Nora
van Durme, Yannick M. T. A.
Chen, Ting-hsu
Barr, R. Graham
Schabath, Matthew B.
Couper, David J.
Brusselle, Guy G.
Psaty, Bruce M.
van Duijn, Cornelia M.
Rotter, Jerome I.
Uitterlinden, Andre G.
Hofman, Albert
Punjabi, Naresh M.
Rivadeneira, Fernando
Morrison, Alanna C.
Enright, Paul L.
North, Kari E.
Heckbert, Susan R.
Lumley, Thomas
Stricker, Bruno H. C.
O'Connor, George T.
London, Stephanie J.
[J]. NATURE GENETICS, 2010, 42 (01) : 45 - U61
[7] 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)
[8] Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease - GOLD executive summary
Rabe, Klaus F.
Hurd, Suzanne
Anzueto, Antonio
Barnes, Peter J.
Buist, Sonia A.
Calverley, Peter
Fukuchi, Yoshinosuke
Jenkins, Christine
Rodriguez-Roisin, Roberto
van Weel, Chris
Zielinski, Jan
[J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2007, 176 (06) : 532 - 555
[9] Genome-wide association study identifies five loci associated with lung function
Repapi, Emmanouela
Sayers, Ian
Wain, Louise V.
Burton, Paul R.
Johnson, Toby
Obeidat, Ma'en
Zhao, Jing Hua
Ramasamy, Adaikalavan
Zhai, Guangju
Vitart, Veronique
Huffman, Jennifer E.
Igl, Wilmar
Albrecht, Eva
Deloukas, Panos
Henderson, John
Granell, Raquel
McArdle, Wendy L.
Rudnicka, Alicja R.
Barroso, Ines
Loos, Ruth J. F.
Wareham, Nicholas J.
Mustelin, Linda
Rantanen, Taina
Surakka, Ida
Imboden, Medea
Wichmann, H. Erich
Grkovic, Ivica
Jankovic, Stipan
Zgaga, Lina
Hartikainen, Anna-Liisa
Peltonen, Leena
Gyllensten, Ulf
Johansson, Asa
Zaboli, Ghazal
Campbell, Harry
Wild, Sarah H.
Wilson, James F.
Glaeser, Sven
Homuth, Georg
Voelzke, Henry
Mangino, Massimo
Soranzo, Nicole
Spector, Tim D.
Polasek, Ozren
Rudan, Igor
Wright, Alan F.
Heliovaara, Markku
Ripatti, Samuli
Pouta, Anneli
Naluai, Asa Torinsson
[J]. NATURE GENETICS, 2010, 42 (01) : 36 - U51
[10] Silverman Edwin K, 2006, Proc Am Thorac Soc, V3, P405, DOI 10.1513/pats.200603-092AW

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