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SMAD3基因rs36221701位点的T>C多态性影响喀什地区人群慢性阻塞性肺疾病的易感性。

SMAD3 rs36221701 T>C polymorphism impacts COPD susceptibility in the Kashi population.

作者信息

Gong Hui, Ren Jie, Xu Jingran, Zhong Xuemei, Abudureheman Zulipikaer, Yilamujiang Subinuer, Xie Chengxin, Ma Tao, Li Feifei, Tang Lifeng, Xu Aimin, Li Li

机构信息

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

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

出版信息

Gene. 2022 Jan 15;808:145970. doi: 10.1016/j.gene.2021.145970. Epub 2021 Sep 20.

DOI:10.1016/j.gene.2021.145970
PMID:34547372
Abstract

Small mother against decapentaplegic (SMAD) family member 3 (SMAD3) is well correlated with the inflammatory response of chronic obstructive pulmonary disease (COPD). A previous study indicated that the single nucleotide polymorphism (SNP) rs36221701 of SMAD3 was related to the risk of inflammatory disease. Hence, given the pathogenesis of COPD is intently associated with smoking and gene polymorphism, this study aims to analyze the relationship between SMAD3 rs36221701 and COPD susceptibility, and to explore whether the interaction is related to smoking status. We studied the association between the rs36221701 and rs34307601 of SMAD3 and COPD susceptibility, a total of 541 COPD patients and 534 controls of the Uyghur population were recruited at the First People's Hospital and the village of Kashi. The interrelation of the two SNPs with the risk of COPD was determined by calculating odds ratio (OR) and 95% confidence interval (95% CI). We found a significant association between the rs36221701 and COPD risk in the non-smoking population. TC genotype showed a significant decreased association with COPD risk (OR = 0.59, 95% CI = 0.41-0.83, P < 0.05), but CC genotype can increased the COPD risk (OR > 1, P < 0.05). In addition, COPD susceptibility was not related to the genetic variations in the rs34307601 (P > 0.05). In conclusion, we confirmed that the SMAD3 rs36221701 may be associated with COPD susceptibility in the Chinese Uyghur population, especially among non-smokers. Our data provide new light for the relationship between SMAD3 gene polymorphisms and COPD susceptibility in the Chinese Uyghur population.

摘要

小母亲抗失活蛋白(SMAD)家族成员3(SMAD3)与慢性阻塞性肺疾病(COPD)的炎症反应密切相关。先前的一项研究表明,SMAD3的单核苷酸多态性(SNP)rs36221701与炎症性疾病风险相关。因此,鉴于COPD的发病机制与吸烟和基因多态性密切相关,本研究旨在分析SMAD3 rs36221701与COPD易感性之间的关系,并探讨这种相互作用是否与吸烟状况有关。我们研究了SMAD3的rs36221701和rs34307601与COPD易感性之间的关联,在喀什地区第一人民医院和村庄共招募了541例COPD患者和534例维吾尔族对照。通过计算比值比(OR)和95%置信区间(95%CI)来确定这两个SNP与COPD风险的相关性。我们发现rs36221701与非吸烟人群的COPD风险之间存在显著关联。TC基因型与COPD风险的关联显著降低(OR = 0.59,95%CI = 0.41 - 0.83,P < 0.05),但CC基因型会增加COPD风险(OR > 1,P < 0.05)。此外,COPD易感性与rs34307601的基因变异无关(P > 0.05)。总之,我们证实SMAD3 rs36221701可能与中国维吾尔族人群的COPD易感性相关,尤其是在非吸烟者中。我们的数据为中国维吾尔族人群中SMAD3基因多态性与COPD易感性之间的关系提供了新的线索。

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