Department of Respiratory, The Second Affiliated Hospital of Harbin Medical University, Harbin 150081, China.
Mol Biol Rep. 2011 Nov;38(8):4941-5. doi: 10.1007/s11033-010-0637-6. Epub 2010 Dec 15.
Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality, influenced by both environmental factor and genetic factor. ADAM33 gene was found to be associated with asthma, declined lung function and COPD. The purpose of the study was to test whether SNPs in ADAM33 were associated with COPD in Tibetan population of China. Polymerase chain reaction-restriction fragment length polymorphism was carried out to genotype the eight SNPs (V4, T2, T1, S2, S1, Q-1 and F + 1) of ADAM33 on 240 COPD patients and 221 healthy individuals. Four SNPs (V4, T2, T1 and S1) and four haplotypes (H2 CGAAGAGC, H5 GAGAGAGC, H9 GAAAGAGC and H6 CGGGGAGC of ADAM33 gene were associated with COPD significantly (defined as P < 0.05). The results indicate that there is an association between ADAM33 polymorphisms and COPD in Tibetan population of China.
慢性阻塞性肺疾病（COPD）是一种常见的、复杂的疾病，与较高的发病率和死亡率相关，其受到环境因素和遗传因素的共同影响。ADAM33 基因与哮喘、肺功能下降和 COPD 有关。本研究旨在检验 ADAM33 基因中的单核苷酸多态性（SNP）是否与中国藏族人群的 COPD 相关。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对 240 例 COPD 患者和 221 例健康个体的 ADAM33 基因中的 8 个 SNP（V4、T2、T1、S2、S1、Q-1 和 F+1）进行基因分型。ADAM33 基因中的 4 个 SNP（V4、T2、T1 和 S1）和 4 个单倍型（H2 CGAAGAGC、H5 GAGAGAGC、H9 GAAAGAGC 和 H6 CGGGGAGC）与 COPD 显著相关（定义为 P＜0.05）。结果表明，ADAM33 基因多态性与中国藏族人群的 COPD 相关。
