Variants in FAM13A are associated with chronic obstructive pulmonary disease.
Variants in FAM13A are associated with chronic obstructive pulmonary disease.
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作者：
大量证据表明，慢性阻塞性肺疾病（COPD）存在遗传易感性。为了确定常见的遗传风险变异，我们对2940例病例和1380例肺功能正常的吸烟对照进行了全基因组关联研究。我们在FAM13 A的4q22.1处发现了一个新的易感位点（rs7671167，OR=0.76，P=8.6×10−8），并在一个病例对照和两个基于家族的队列中提供了复制证据（对于所有研究，合并P=1.2×10−11）。
Substantial evidence suggests that there is genetic susceptibility to chronic obstructive pulmonary disease (COPD). To identify common genetic risk variants, we performed a genome-wide association study in 2940 cases and 1380 smoking controls with normal lung function. We demonstrate a novel susceptibility locus at 4q22.1 in FAM13A (rs7671167, OR=0.76, P=8.6×10−8) and provide evidence of replication in one case-control and two family-based cohorts (for all studies, combined P=1.2×10−11).