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基因的 rs74794265 SNP 与中国喀什的 COPD 有关。

The rs74794265 SNP of the Gene is Associated with COPD in Kashi, China.

机构信息

Department of Clinical Research Center of Infectious Diseases (Pulmonary Tuberculosis), First People's Hospital of Kashi, Kashi, People's Republic of China.

Department of Respiratory and Critical Care Medicine, First People's Hospital of Kashi, Kashi, People's Republic of China.

出版信息

Int J Chron Obstruct Pulmon Dis. 2021 Sep 16;16:2631-2636. doi: 10.2147/COPD.S321150. eCollection 2021.

DOI:10.2147/COPD.S321150
PMID:34556983
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8453436/
Abstract

BACKGROUND

Kashi city is situated near the Taklamakan desert and has a high incidence rate of chronic obstructive pulmonary disease (COPD). In this study, we aimed to explore the relationship between the SNP of the gene locus rs74794265 and the susceptibility to COPD among the Uyghur population in Kashi, XinJiang, China.

METHODS

A total of 541 patients with COPD and 534 control subjects were included in this study. Sanger sequencing was used to analyze the SNP of the gene locus rs74794265 site. The distribution of genotypes in different genetic models between the case and control group were analyzed by logistic regression analysis after adjusting for age, sex, and smoking history.

RESULTS

The gene SNP locus rs74794265 included two genotypes, namely, C/C and C/T, of which C/C was the wildtype; The risk of COPD was significantly lower in patients with heterozygous C/T in rs74794265 [=0.0236, OR=0.3677 (0.1547-0.8742)], and the allele frequency of T was also significantly lower in the patient group [=0.0245, OR=0.3728 (0.1577-0.8811)]. The heterozygous C/T of rs74794265 among non-smoking COPD patients was significantly lower than other COPD patients [=0.0298, OR=0.3217 (0.1156-0.8949)], and there was no significant correlation of the heterozygous C/T genotype in smokers.

CONCLUSION

We found that the rs74794265 heterozygous C/T genotype significantly reduces the risk of COPD. The C/T genotype is likely a protective factor for COPD in the Kashi region. We speculate that the occurrence of COPD in this area is probably more related to desert climate condition and genetic factors than smoking status.

摘要

背景

喀什市位于塔克拉玛干沙漠附近,慢性阻塞性肺疾病(COPD)发病率较高。本研究旨在探讨新疆喀什维吾尔族人群中基因座 rs74794265 的 SNP 与 COPD 易感性的关系。

方法

本研究共纳入 541 例 COPD 患者和 534 例对照。采用 Sanger 测序分析基因座 rs74794265 位点的 SNP。在调整年龄、性别和吸烟史后,采用逻辑回归分析比较病例组和对照组不同遗传模型下各基因型的分布。

结果

基因 SNP 位点 rs74794265 包括两种基因型,即 C/C 和 C/T,其中 C/C 为野生型;rs74794265 杂合 C/T 患者 COPD 发病风险显著降低[=0.0236,OR=0.3677(0.1547-0.8742)],T 等位基因频率在患者组也显著降低[=0.0245,OR=0.3728(0.1577-0.8811)]。非吸烟 COPD 患者 rs74794265 杂合 C/T 明显低于其他 COPD 患者[=0.0298,OR=0.3217(0.1156-0.8949)],吸烟患者 rs74794265 杂合 C/T 基因型无显著相关性。

结论

我们发现 rs74794265 杂合 C/T 基因型显著降低 COPD 的发病风险。C/T 基因型可能是喀什地区 COPD 的保护因素。我们推测该地区 COPD 的发生可能与沙漠气候条件和遗传因素有关,而与吸烟状况关系不大。