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目的:探讨FTO基因rs9939609 A/T单核苷酸多态性位点与多囊卵巢综合征易感性及其临床生化特征的相关性。方法:选择102例多囊卵巢综合征患者和96例健康女性作为研究对象并收集其病例临床信息,采用突变敏感性分子开关方法检测各受试者FTO基因rs9939609A/T多态,比较多囊卵巢综合征组与对照组基因型与基因频率的差异,分析基因型与临床生化特征的相关性。结果:rs9939609A/T多态位点共检测到TT、AT、AA三种基因型,其在多囊卵巢综合征组与对照组的频率分别为77.5%、21.5%、1.0%,77.1%12.5%10.4%,两者之间存在显著性差异(P=0.006);等位基因T、A的频率在多囊卵巢综合征组(88.2%、11.8%)与对照组(83.3%、16.7%)之间的分布不具有显著性差异;多囊卵巢综合征组与对照组中,TT与AT+AA两基因型群体的临床和生化特征比较均未发现显著性差异。结论:FTO基因rs9939609 A/T多态位点与PCOS易感性存在相关性。
Objective: To investigate the association of rs9939609 A / T single nucleotide polymorphism (SNP) of FTO gene with susceptibility to polycystic ovary syndrome and its clinical biochemical characteristics. Methods: A total of 102 patients with PCOS and 96 healthy women were enrolled in this study. The clinical information of the cases was collected. The polymorphism of FTO gene rs9939609A / T in each subject was detected by mutation-sensitive molecular switch method. Syndrome group and control group genotypes and gene frequency differences, analysis of genotypes and clinical biochemical characteristics of the correlation. Results: TT, AT and AA genotypes were detected in rs9939609A / T polymorphism sites. The frequency of rs9939609A / T polymorphism was 77.5%, 21.5%, 1.0%, 77.1% and 12.5% in PCOS group and control group, respectively (P = 0.006). The frequency of allele T, A was higher in polycystic ovary syndrome (88.2%, 11.8%) and control group (83.3%, 16.7%) than in control group There was no significant difference between the two groups. There was no significant difference in the clinical and biochemical characteristics between TT and AT + AA genotypes in PCOS and control groups. Conclusion: The polymorphism of rs9939609 A / T of FTO gene is associated with the susceptibility to PCOS.