Variants in FAM13A are associated with chronic obstructive pulmonary disease

• DOI: 10.1038/ng.535
• Publication Date: 2010-02-21T18:49:03Z
• Authors: Michael H Cho; Nadia Boutaoui; Barbara J Klanderman; Jody S Sylvia; John P Ziniti; Craig P Hersh; Dawn L DeMeo; Gary M Hunninghake; Augusto A Litonjua; David Sparrow; Christoph Lange; Sungho Won; James R Murphy; Terri H Beaty; Elizabeth A Regan; Barry J Make; John E Hokanson; James D Crapo; Xiangyang Kong; Wayne H Anderson; Ruth Tal-Singer; David A Lomas; Per Bakke; Amund Gulsvik; Sreekumar G Pillai; Edwin K Silverman
• Keywords: Genome-wide Association Study; Genetic Association

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).