| ESR1基因多态性与新疆胆石症相关性研究 |
| 投稿时间：2016-07-26 修订日期：2016-09-23 点此下载全文 |
| 引用本文：玛依拉·卡米力江,赛甫丁·艾比布拉,阿丽叶古丽·艾皮热,克力木·阿不都热依木.ESR1基因多态性与新疆胆石症相关性研究[J].医学研究杂志,2017,46(4):65-69 |
| DOI：
10.11969/j.issn.1673-548X.2017.04.017 |
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| 基金项目:新疆维吾尔自治区人民医院院内科研项目（20140305） |
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| 中文摘要: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 MassARRAY 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。 |
| 中文关键词:胆石症 ESR1 基因多态性 rs35396879 |
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| Association of ESR1 Gene Polymorphisms with Gallstone in Xinjiang |
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| Abstract:Objective To analyze the association of ESR1 gene polymorphism at rs35396879 with gallstone disease of Han and Uyghur in Xinjiang. Methods A case-control study was conducted in 87 Uyghur and 54 Han gallstone patients (operated in our hospital) as well as 56 Uyghur and 45 Han healthy controls. Venous peripheral blood was collected for genomic DNA extraction. Sequenom MassARRAY SNP genotyping platform was applied to quantitatively determine the genotype of ESR1 polymorphism at rs35396879, and genotype and allele frequency were calculated and compared among the gallstone groups and healthy groups of Uyghur and Han patients. Results In Uyghur population, LDL level was significantly higher in gallstones disease group than in control group. In Han population, the significant difference was found in gender distribution between gallstone and control groups, and TC level was significantly higher in gallstones disease group than in control group. Genotype and allele frequencies of rs35396879 in Uyghur gallstone group was significantly different with Uyghur control group and Han gallstone group (P < 0.05), but there were no significant difference between Han gallstone group with Han control group, and Uyghur control group with Han control group (P > 0.05). Conclusion The genotype and allele frequencies of ESR1 rs35396879 were different between Han and Uyghur population, which may be the potential molecular mechanism that determines the different clinical phenotypes of gallstone in these two populations. |
| keywords:Gallstone ESR1 Gene polymorphism rs35396879 |
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