黏蛋白MUC5B启动子rs35705950多态性与特发性肺纤维化易感性的研究*

目的 探讨黏蛋白MUC5B启动子rs35705950 G>T多态性与新疆地区维吾尔族人群特发性肺纤维化（IPF）遗传易感性的相关性。方法 选取2015年6月—2018年6月新疆维吾尔自治区人民医院维吾尔族IPF患者88例为IPF组。对照组88例主要来自急诊门诊就诊及健康管理中心体检的无慢性疾病的维吾尔族患者，与IPF组1∶1配对。采用PCR-直接测序法分别检测IPF组及对照组MUC5B启动子rs35705950 G>T多态性，并分析各基因分布频率与IPF的相对危险度。结果 IPF组与对照组中的GT突变基因型和野生GG基因型构成的比较，差异无统计学意义（P?>0.05）；两组等位基因G和等位基因T的比较，差异无统计学意义（P?>0.05）。结论 新疆地区维吾尔族人群MUC5B启动子rs35705950 G>T多态性与IPF的发生可能无相关。

Association between rs35705950 polymorphism of mucin MUC5B promoter and susceptibility of idiopathic pulmonary fibrosis*

Objective To investigate the correlation between rs35705950 G > T polymorphism of MUC5B promoter and genetic susceptibility of IPF in Uygur population in Xinjiang. Methods From June 2015 to June 2018, a total of 88 cases of IPF of Uygur nationality were collected. The control group consisted of 88 Uygur patients without chronic diseases, was mainly selected from emergency clinics and health management centers. They were matched with IPF group at a 1 : 1 ratio. The polymorphism of MUC5B promoter rs35705950 G > T in IPF patients and healthy controls was detected by PCR-direct sequencing, and the correlation between the frequency of gene distribution and the susceptibility of IPF was analyzed. Results There was no significant difference in the composition of GT mutant genotype and wild GG genotype between IPF group and control group (P?>?0.05). There was no significant difference in G and T alleles between the two groups (P?>?0.05). Conclusion The polymorphism of MUC5B promoter rs35705950 G > T in Xinjiang Uygur population may not be related to the occurrence of IPF.