Variants in FAM13A are associated with chronic obstructive pulmonary disease

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).

[1]  Michael P Boyle,et al.  Respiratory epithelial gene expression in patients with mild and severe cystic fibrosis lung disease. , 2006, American journal of respiratory cell and molecular biology.

[2]  S. Singhal,et al.  Gene induction during differentiation of human pulmonary type II cells in vitro. , 2006, American journal of respiratory cell and molecular biology.

[3]  E. Silverman.  Progress in chronic obstructive pulmonary disease genetics. , 2006, Proceedings of the American Thoracic Society.

[4]  A. Hofman,et al.  Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function , 2010, Nature Genetics.

[5]  R. Quatrano.  Genomics , 1998, Plant Cell.

[6]  K. Shianna,et al.  A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci , 2009, PLoS genetics.

[7]  Inês Barroso,et al.  Genome-wide association study identifies five loci associated with lung function , 2010, Nature Genetics.

[8]  Daniel F. Gudbjartsson,et al.  A variant associated with nicotine dependence, lung cancer and peripheral arterial disease , 2008, Nature.

[9]  K. Mossman.  The Wellcome Trust Case Control Consortium, U.K. , 2008 .

[10]  Trevor Hastie,et al.  Gene Expression Programs in Response to Hypoxia: Cell Type Specificity and Prognostic Significance in Human Cancers , 2006, PLoS medicine.

[11]  J. Weller,et al.  Cloning and characterization of FAM13A1--a gene near a milk protein QTL on BTA6: evidence for population-wide linkage disequilibrium in Israeli Holsteins. , 2004, Genomics.

[12]  W. MacNee,et al.  Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points (ECLIPSE) , 2008, European Respiratory Journal.

[13]  Simon C. Potter,et al.  Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls , 2007, Nature.

[14]  Scott T. Weiss,et al.  A Genome-Wide Association Study of Pulmonary Function Measures in the Framingham Heart Study , 2009, PLoS genetics.

[15]  马建新,et al.  用FEV6．0代替FVC诊断气道阻塞和肺功能受限[英]／Swanney MP…∥Am J Respir Crit Care Med． , 2002 .

[16]  Albert Damon,et al.  The Normative Aging Study: An Interdisciplinary and Longitudinal Study of Health and Aging , 1972 .

[17]  Steven Piantadosi,et al.  A randomized trial comparing lung-volume-reduction surgery with medical therapy for severe emphysema. , 2003, The New England journal of medicine.