FTO基因rs9939609 A/T多态与多囊卵巢综合征易感性的研究

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。

The Association between FTO rs9939609 A/T and Susceptibility to Polycystic Ovary Syndrome

ABSTRACT Objective: To explore the association between FTO rs9939609 A/T and susceptibility to polycystic ovary syndrome, as well as the clinical and/or biochemical features. Methods: A total of 102 PCOS females and 96 healthy women were recruited into current study and case information was collected. The polymorphism of rs9939609 A/T was detected by mutation sensitive on-off switch and the frequencies of genotype and allele in both PCOS and control group were analyzed. The association between genotype and PCOS features was assessed. Results: The frequencies of TT, AT and AA genotype was 77.5 %, 21.5 %, 1.0 % in PCOS group and 77.1 %, 12.5 %, 10.4 % in control group with significant difference (P=0.006). For T and A, the frequencies were 88.2 % and 11.8 % in PCOS, 83.3 % and 16.7 % in control grouxp, respectively (P=0.162). TT and AT+AA genotype showed no statistic difference in clinical and/or biochemical data between the PCOS group and control group. Conclusion: FTO rs9939609 A/T is correlated with the susceptibility to PCOS.