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

M.H. Cho*, P.J. Castaldi, E.S. Wan, M. Siedlinski, C.P. Hersh, D.L. Demeo, B.E. Himes, J.S. Sylvia, B.J. Klanderman, J.P. Ziniti, C. Lange, A.A. Litonjua, D. Sparrow, E.A. Regan, B.J. Make, J.E. Hokanson, T. Murray, J.B. Hetmanski, S.G. Pillai, X. KongW.H. Anderson, R. Tal Singer, D.A. Lomas, H.O. Coxson, L.D. Edwards, W. MacNee, J. Vestbo, J.C. Yates, A. Agusti, P.M. Calverley, B. Celli, C. Crim, S. Rennard, E.F.M. Wouters, P. Bakke, A. Gulsvik, J.D. Crapo, T.H. Beaty, E.K. Silverman

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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 x 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.
Original languageEnglish
Pages (from-to)947-957
JournalHuman Molecular Genetics
Issue number4
Publication statusPublished - 1 Jan 2012


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