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目的探讨雌激素受体1(estrogen receptor 1,ESR1)基因rs35396879多态性位点基因型与新疆维吾尔族、汉族胆石症之间的关系。方法采用病例-对照研究方法,收集胆石症患者维吾尔族87例、汉族54例;正常对照组维吾尔族56例,汉族45例,检测及比较其一般临床特征指标。同时采集外周静脉血,提取基因组DNA,运用Sequenom Mass ARRAY单核苷酸多态性(SNP)基因型分析技术定量检测ESR1基因rs35396879位点基因分型,分析基因型分布在维吾尔族、汉族胆石症组和健康对照组间的差异。结果维吾尔族胆石症组低密度脂蛋白LDL显著高于对照组(P<0.05),性别分布在汉族胆石症组和对照组之间差异有统计学意义(P<0.05),汉族人群胆石症组总胆固醇TC显著高于对照组(P<0.05);ESR1基因rs35396879位点在维吾尔族胆石症患者中的基因型和等位基因分布频率与维吾尔族对照组和汉族胆石症组差异均有统计学意义(P<0.05)。而汉族胆石症患者与汉族对照组、维吾尔族对照组和汉族对照组之间差异无统计学意义。结论维吾尔族和汉族胆石症患者之间ESR1的rs35396879位点基因型和等位基因频率分布有差异,这可能是两个民族具有不同胆结石临床表型的潜在分子机制。
Objective To investigate the relationship between rs35396879 polymorphism of estrogen receptor 1 (ESR1) gene polymorphism and Uygur and Han cholelithiasis in Xinjiang Uygur Autonomous Region. Methods A case-control study was conducted in 87 patients with Uygur and 54 Han patients. Fifty-six Uighurs in the control group and 45 Han patients were enrolled in the study. The clinical features of the patients were detected and compared. At the same time, peripheral venous blood was collected and genomic DNA was extracted. Sequenom Mass ARRAY SNP genotyping was used to quantitatively detect genotypes of rs35396879 in ESR1 gene. The genotypes were analyzed in Uighur, Han cholelithiasis Differences between groups and healthy controls. Results The LDL LDL of Uighur cholelithiasis group was significantly higher than that of the control group (P <0.05). There was a significant difference in gender distribution between the Han cholelithiasis group and the control group (P <0.05) Total cholesterol TC was significantly higher than the control group (P <0.05); rs35396879 ESR1 locus genotype and allele frequencies in Uighur cholelithiasis patients and Uygur control group and Han cholelithiasis group were statistically different Significance (P <0.05). Han Chinese cholelithiasis patients and Han control group, Uygur control group and Han control group, the difference was not statistically significant. Conclusion There is a difference in genotype and allele frequencies of rs35396879 in ESR1 between Uighur and Han patients with cholelithiasis, which may be a potential molecular mechanism for the two peoples to have different clinical phenotypes of gallstone.