多囊卵巢综合征患者FEM1A基因的多态性研究

Polymorphisms of FEMIA gene in patients with polycystic ovary syndrome

目的通过分析多囊卵巢综合征（polycysticovarysyndrome，PCOS）患者FEM1A基因单核苷酸多态性（singlenucleotidepolymorhisms，SNPs），初步探讨FEMIA基因多态性与PCOS的关系。方法采用SNPs直接DNA测序法对120例PCOS患者和155名健康志愿者FEM1A基因的rs12460989和rs8111933位点进行分型，同时分析其与高雄激素血症、胰岛素抵抗（insulinresistance，IR）的关系。结果中国汉族人群FEM1A基因rs12460989检测到TT、TG和GG等3种基因型，rs81111933检测到GG、GC和CC等3种基因型。与对照组相比，PCOS组rs12460989和rs8111933等位基因分布的差异均有统计学意义（χ^2=33．302，P〈0．01；χ^2=11．252，P〈0．01）。多因素非条件Logistic回归分析显示，rs12460989TG＋GG基因型和rs81111933GC＋CC基因型入选高雄激素血症风险因素的主效应模型，rs8111933GC＋CC基因型入选IR风险因素的主效应模型。结论FEMjA基因rs12460989、rs8111933多态性与PCOS的发病风险存在关联。两者可能是高雄激素血症潜在的风险因素，且rs8111933多态性可能是IR潜在的风险因素。

Objective To assess the association between FEMIA gene polymorphisms and polycystic ovary syndrome （PCOS） in Chinese Han patients. Methods DNA sequencing was utilized to determine the genotypes of rs12460989 and rs8111933 loci ofFEM1A gene in 120 PCOS patients and 155 healthy controls. Association between above polymorphisms and hyperandrogenism and insulin resistance （IR） was assessed. Results Genotypes TT, TG and GG of the rs12460989 locus, and GG, GC and CC of the rs8111933 locus were detected. There were significant differences in allelic frequencies （X^2=33. 302, P（0.01;χ^2 = 11. 252, P〈0.01, respectively） for above loci between the two groups. Multifactorial logistic regression analysis indicated that TG＋GG genotype of rs12460989 and GC＋CC genotype of rs8111933 were included into the main effect model of hyperandrogenism, and GC＋CC genotype of rs8111933 was included into the main effect model of IR. Conclusion Particular genotypes of the rs12460989 and rs8111933 loci of FEM1A gene are associated with PCOS in Chinese Han and may be a potential risk factor of hyperandrogenism. Polymorphisms of the rs8111933 loci of FEMIA gene may be a risk factor of IR.