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Hum Mol Genet. 2012 Feb 15;21(4):947-57. doi: 10.1093/hmg/ddr524. Epub 2011 Nov 11.

A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.

Collaborators (228)

Curtis J, Kazerooni E, Hanania N, Alapat P, Bandi V, Guntupalli K, Guy E, Mallampalli A, Trinh C, Atik M, DeMeo D, Hersh C, Washko G, Jacobson F, Barr RG, Thomashow B, Austin J, MacIntyre N Jr, Washington L, McAdams HP, Rosiello R, Bresnahan T, McEvoy C, Tashjian J, Wise R, Hansel N, Brown R, Diette G, Casaburi R, Porszasz J, Fischer H, Budoff M, DeBakey M, Sharafkhaneh A, Trinh C, Kamal H, Darvishi R, Niewoehner D, Allen T, Anderson Q, Rice K, Foreman M, Westney G, Berkowitz E, Bowler R, Friedlander A, Lynch D, Schroeder J, Newell J Jr, Criner G, Kim V, Marchetti N, Satti A, Mamary AJ, Steiner R, Dass C, Bailey W, Dransfield M, Nath H, Ramsdell J, Friedman P, McLennan G, van Beek EJ, Thompson B, Look D, Martinez F, Han M, Kazerooni E, Wendt C, Allen T, Sciurba F, Weissfeld J, Fuhrman C, Bon J, Anzueto A, Adams S, Orozco C, Ruiz M, Crapo J, Silverman E, Make B, Regan E, Moyle S, Stinson D, Beaty T, Klanderman B, Laird N, Lange C, Cho M, Santorico S, Hokanson J, DeMeo D, Hansel N, Hersh C, Hetmanski J, Murray T, Lynch D, Schroeder J, Newell J Jr, Reilly J, Coxson H, Judy P, Hoffman E, Washko G, Estepar RS, Ross J, Leek R, Zach J, Kluiber A, Sieren J, Baumhauer H, McArthur V, Kazlouski D, Allen A, Mann T, Rodionova A, Jensen R, Farzadegan H, Meyerer S, Chandan S, Bragan S, Murphy J, Everett D, Wilson C, Knowles R, Powell A, Piccoli J, Robinson M, Forbes M, Wamboldt M, Hokanson J, Sontag M, Black-Shinn J, Kinney G, Ivanov Y, Kostov K, Bourbeau J, Fitzgerald M, Hernández P, Killian K, Levy R, Maltais F, O'Donnell D, Krepelka J, Vestbo J, Wouters E, Quinn D, Bakke P, Kosnik M, Agusti A, Sauleda J, de Mallorca P, Feschenko Y, Gavrisyuk V, Yashina L, Yashina L, MacNee W, Singh D, Wedzicha J, Anzueto A, Braman S, Casaburi R, Celli B, Giessel G, Gotfried M, Greenwald G, Hanania N, Mahler D, Make B, Rennard S, Rochester C, Scanlon P, Schuller D, Sciurba F, Sharafkhaneh A, Siler T, Silverman E, Wanner A, Wise R, ZuWallack R, Coxson H, Crim C, Edwards L, Lomas D, MacNee W, Silverman E, Tal Singer R, Vestbo J, Yates J, Agusti A, Calverley P, Celli B, Crim C, Miller B, MacNee W, Rennard S, Tal-Singer R, Wouters E, Yates J, Benditt J, Criner G, DeCamp M, Diaz P, Ginsburg M, Kaiser L, Katz M, Krasna M, MacIntyre N, McKenna R, Martinez F, Mosenifar Z, Reilly J, Ries A, Scanlon P, Sciurba F, Utz J, Silverman EK, Lomas DA, Make BJ, Agusti A, Sauleda J, Calverley PM, Donner CF, Levy RD, Paré PD, Rennard S, Vestbo J, Wouters EF.

Author information

1
Channing Laboratory, Brigham & Women’s Hospital, Boston, MA 02115, USA. michael.cho@channing.harvard.edu

Abstract

The genetic risk factors for chronic obstructive pulmonary disease (COPD) are still largely unknown. To date, genome-wide association studies (GWASs) of limited size have identified several novel risk loci for COPD at CHRNA3/CHRNA5/IREB2, HHIP and FAM13A; additional loci may be identified through larger studies. We performed a GWAS using a total of 3499 cases and 1922 control subjects from four cohorts: the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE); the Normative Aging Study (NAS) and National Emphysema Treatment Trial (NETT); Bergen, Norway (GenKOLS); and the COPDGene study. Genotyping was performed on Illumina platforms with additional markers imputed using 1000 Genomes data; results were summarized using fixed-effect meta-analysis. We identified a new genome-wide significant locus on chromosome 19q13 (rs7937, OR = 0.74, P = 2.9 × 10(-9)). Genotyping this single nucleotide polymorphism (SNP) and another nearby SNP in linkage disequilibrium (rs2604894) in 2859 subjects from the family-based International COPD Genetics Network study (ICGN) demonstrated supportive evidence for association for COPD (P = 0.28 and 0.11 for rs7937 and rs2604894), pre-bronchodilator FEV(1) (P = 0.08 and 0.04) and severe (GOLD 3&4) COPD (P = 0.09 and 0.017). This region includes RAB4B, EGLN2, MIA and CYP2A6, and has previously been identified in association with cigarette smoking behavior.

TRIAL REGISTRATION:

ClinicalTrials.gov NCT00292552.

PMID:
22080838
PMCID:
PMC3298111
DOI:
10.1093/hmg/ddr524
[Indexed for MEDLINE]
Free PMC Article

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