A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
- Cho, M.H.
- Castaldi, P.J.
- Wan, E.S.
- Siedlinski, M.
- Hersh, C.P.
- Demeo, D.L.
- Himes, B.E.
- Sylvia, J.S.
- Klanderman, B.J.
- Ziniti, J.P.
- Lange, C.
- Litonjua, A.A.
- Sparrow, D.
- Regan, E.A.
- Make, B.J.
- Hokanson, J.E.
- Murray, T.
- Hetmanski, J.B.
- Pillai, S.G.
- Kong, X.
- Anderson, W.H.
- Tal Singer, R.
- Lomas, D.A.
- Coxson, H.O.
- Edwards, L.D.
- MacNee, W.
- Vestbo, J.
- Yates, J.C.
- Agusti, A.
- Calverley, P.M.
- Celli, B.
- Crim, C.
- Rennard, S.
- Wouters, E.F.M.
- Bakke, P.
- Gulsvik, A.
- Crapo, J.D.
- Beaty, T.H.
- Silverman, E.K.
DOIAbstract
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 summa...
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