【摘要】 目的分析与多囊卵巢综合征（polycystic ovarian syndrome,PCOS）发病相关的THADA基因,为PCOS的早期预防奠定科学基础。方法连续收集2018年4月～2019年10月在新疆医科大学第一附属医院妇科门诊做备孕检查的166例健康女性和同期同院的妇科门诊和生殖助孕中心的166例PCOS确诊患者全血,用iMLDR技术检测PCOS组与对照组女性的THADA基因的3个位点,通过Hardy-Weinberg遗传平衡定律分析检测的基因型有无代表性;用χ²检验及单因素Logistic回归分析基因变异与PCOS以及其他PCOS相关临床指标的关联;采用SHEsis软件分析3个基因各位点间是否存在连锁不平衡以及单倍体型与PCOS风险的关联性。结果两组基因型分布均符合遗传学平衡定律。经组间比较THADA基因rs12468394、rs13429458、rs7563201这3个位点与PCOS间均无关联（P>0.05）,进一步分析临床指标与基因相关性,PCOS组中雌二醇（estrodiol,E₂）在THADA基因rs12468394位点CC、AC、AA 3个基因型间差异有统计学意义（P<0.05）。结论 THADA基因rs12468394、rs13429458、rs7563201位点的基因多态性与乌鲁木齐女性PCOS易感性无关,但rs12468394位点突变可能与PCOS患者激素水平紊乱相关。更多还原

【Abstract】 Objective To analyze the THADA genes associated with the onset of polycystic ovarian syndrome（PCOS） and lay a scientific foundation for the early prevention of PCOS. Methods Consecutive blood samples were collected from 166 healthy women undergoing pregnancy check-ups in a gynecological outpatient department of a tertiary hospital from April 2018 to October 2019, and 166 PCOS-confirmed patients with gynecological outpatient and reproductive fertility centers in the same hospital. The 3 loci of THADA gene in PCOS group and control group females were analyzed by Hardy-Weinberg genetic equilibrium law to determine whether the genotypes were representative. χ² test and univariate Logistic regression was used to analysis the association of genetic variation with PCOS and other PCOS-related clinical indicators. SHEsis software was used to analyze whether there was linkage disequilibrium between the three gene points and the association between haplotype and PCOS risk. Results The distribution of genotypes in both groups complied with the law of genetic balance. After comparing the three sites of THADA genes rs12468394, rs13429458, and rs7563201 with PCOS, there was no correlation between them（P>0.05）, and further analysis of clinical indicators and gene correlation. The estradiol（E₂） in the PCOS group had significant differences in rs12468394 loci between CC, AC and AA genotypes（P<0.05）. Conclusion The THADA gene rs12468394, rs13429458 and rs7563201 gene polymorphisms have nothing to do with the susceptibility to PCOS in Urumqi women, but the rs12468394 mutation may be related to hormone disorders in PCOS patients.更多还原