Association of SERPINE2 gene with the risk of chronic obstructive pulmonary disease and spirometric phenotypes in northern Han Chinese population |
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Authors: | Li An Ting Yang Yongbiao Zhang Yingxiang Lin Hong Zhang Xia Jiao Lin Hua Huaping Dai Chen Wang |
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Institution: | (1) Beijing Key Laboratory of Respiratory and Pulmonary Circulation Disorders, Beijing Institute of Respiratory Medicine, Department of Respiratory and Critical Care Medicine, Beijing Chao-Yang Hospital, Capital Medical University, No 8, Gongren Tiyuchang Nanlu, Chao-yang District, Beijing, 100020, China;(2) CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, No 7, Beitucheng West Road, Chaoyang District, Beijing, 100029, China;(3) Biomedical Engineering Institute of Capital Medical University, Capital Medical University, No 10, Xitoutiao, You An Men, Beijing, 100069, China;(4) Beijing Hospital, Ministry of Health, No 8, Gongren Tiyuchang Nanlu, Chao-yang District, Beijing, 100020, China; |
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Abstract: | Chronic obstructive pulmonary disease (COPD) is a complex human disease influenced by multiple genes and environmental factors.
The SERPINE2 gene has recently been demonstrated to be associated with COPD onset in a non-East Asian population. In this study, we genotyped
20 single nucleotide polymorphisms (SNPs) in SERPINE2 from 310 cases and 203 controls, all of which belong to the Han from North China. Genotype frequencies were compared between
the cases and the controls and analyzed for statistical significance. Two SNPs (rs729631 and rs975278), which are in strong
linkage disequilibrium (LD) and locate in block 1 on the LD map of our samples, showed significant association both with the
risk of COPD and decline in baseline lung function after Bonferroni correction (P < 0.05). This study provides further evidences for SERPINE2 gene as a COPD susceptible gene, and block 1 of SERPINE2 appears to be the genetic variant region that affects the Han Chinese. |
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