Variants in FAM13A are associated with chronic obstructive pulmonary disease

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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 × 10−11, combined odds ratio in case-control studies 0.76, 95% confidence interval 0.69–0.83).

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Figure 1: Regional association plot for signal at the FAM13A locus.


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This work was supported by US National Institutes of Health (NIH) grants R01 HL075478, R01 HL084323, P01 HL083069, U01 HL089856 (E.K.S.), K12HL089990 (M.H.C) and U01 HL089897 (J.D.C.). The National Emphysema Treatment Trial was supported by the National Heart, Lung, and Blood Institute, the Centers for Medicare and Medicaid Services and the Agency for Healthcare Research and Quality. The Normative Aging Study is supported by the Cooperative Studies Program/ERIC of the US Department of Veterans Affairs and is a component of the Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC). The Norway cohort, the ECLIPSE study ( identifier NCT00292552; GSK Code SCO104960) and the ICGN study are funded by GlaxoSmithKline. Further acknowledgments are given in the Supplementary Note.

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Study design: E.K.S., M.H.C., A.A.L., D.S., S.G.P., X.K., W.H.A., R.T.-S., D.A.L., P.B., A.G., J.R.M., T.H.B., E.A.R., B.J.M., J.E.H., J.D.C., C.P.H. and D.L.D. Sample collection and phenotyping: A.A.L., D.S., S.G.P., X.K., W.H.A., R.T.-S., D.A.L., P.B., A.G., E.A.R., B.J.M., J.D.C., E.K.S. Genotyping: N.B., B.J.K., M.H.C., S.G.P., X.K. Informatics: M.H.C., J.S.S., J.P.Z., B.J.K., N.B. Statistical analysis: M.H.C., C.L., S.W., E.K.S. Manuscript writing: M.H.C., G.M.H., E.K.S. All authors reviewed and approved the manuscript.

Correspondence to Edwin K Silverman.

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Competing interests

E.K.S. has received grant support and consulting and speaker's fees from GlaxoSmithKline, consulting and speaker's fees from Astra-Zeneca and speaker's fees from Bayer and Wyeth. D.A.L. has received grant support, lecture fees and consultancy fees from GlaxoSmithKline. S.G.P, X.Q.K., W.H.A. and R.M.T. are employees of GlaxoSmithKline.

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Supplementary Methods, Supplementary Note, Supplementary Figures 1–3 and Supplementary Tables 1–4 (PDF 466 kb)

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