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FAM13A 中的变异与慢性阻塞性肺疾病有关。

Variants in FAM13A are associated with chronic obstructive pulmonary disease.

机构信息

Channing Laboratory, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

出版信息

Nat Genet. 2010 Mar;42(3):200-2. doi: 10.1038/ng.535. Epub 2010 Feb 21.

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).

摘要

我们在三个人群队列中进行了一项针对慢性阻塞性肺疾病(COPD)的全基因组关联研究,包括 2940 例病例和 1380 例肺功能正常的现吸烟或既往吸烟对照者。我们在 FAM13A 基因的 4q22.1 上发现了一个新的易感性位点,并在一个病例对照组(n=1006)和两个基于家族的队列(n=3808)中复制了这种关联(rs7671167,合并 P=1.2×10(-11),病例对照研究中合并的优势比为 0.76,95%置信区间为 0.69-0.83)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e182/2828499/15843fc53b6f/nihms172757f1.jpg

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