Variants in FAM13A are associated with chronic obstructive pulmonary disease

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, 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

Abstract

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).

Trial registration: ClinicalTrials.gov NCT00292552.

Figures

Figure 1. Regional association plot for signal…
Figure 1. Regional association plot for signal at the FAM13A locus
P values in the primary analysis are shown as circles; colors indicate r2 of each SNP with rs7671167. Dotted lines connect the top two P values from the primary analysis with diamonds, showing the combined (primary plus replication) studies. Grey bars show the recombination rate based on CEU HapMap Build 22. The top of the figure shows UCSC genes at the corresponding location based on the March 2006 (hg18) assembly (genome.ucsc.edu).

References

    1. Rabe KF, et al. Am J Respir Crit Care Med. 2007;176:532–555.
    1. Silverman EK, et al. Proc Am Thorac Soc. 2006;3:405–408.
    1. Pillai SG, et al. PLoS Genet. 2009;5:e1000421.
    1. Fishman A, et al. N Engl J Med. 2003;348:2059–2073.
    1. Bell B, et al. Aging Hum Dev. 1972;3:5–17.
    1. Wilk JB, et al. PLoS Genet. 2009;5:e1000429.
    1. Vestbo J, et al. Eur Respir J. 2008;31:869–873.
    1. Cohen M, et al. Genomics. 2004;84:374–383.
    1. Chi JT, et al. PLoS Med. 2006;3:e47.
    1. Wade KC, et al. Am J Respir Cell Mol Biol. 2006;34:727–737.
    1. Wright JM, et al. Am J Respir Cell Mol Biol. 2006;35:327–336.
    1. Hancock DB, et al. Nat Genet. 2009
    1. Repapi E, et al. Nat Genet. 2009
    1. Nature. 2007;447:661–678.
    1. Thorgeirsson TE, et al. Nature. 2008;452:638–642.

Source: PubMed

Sponsors and Collaborators

Medical Conditions

Drug Interventions

3
Subscribe