黄体生成素β Gly102Ser基因多态性与多囊卵巢综合征的相关性研究

The relationship between the polymorphisms of the Luteinizing hormone β subunit(LH β) Gly102Ser and polycystic ovary syndrome

目的探讨黄体生成素β(Luteinizing hormoneβ-subunit,LHβ)Gly102Ser及黄体生成素受体(Luteinizing hormone receptor,LHR)基因多态性与PCOS的相关性。方法应用聚合酶链反应-限制性片段长度多态性(Polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)检测LHβGly102Ser多态性,分析LHβ基因多态性与多囊卵巢综合征(polycystic ovary syndrome,PCOS)的相关性。结果 PCOS组中LHβGly102Ser基因有14例突变型,占3.3%。对照组中3例突变,占1.1%;PCOS组LHβGly102Ser基因突变率显著高于对照组(P=0.006);LHβGly102Ser基因突变型的血清基础LH水平低于对照组(P>0.05),但突变组有降低趋势;PCOS组内血清LH<2mmol/L的患者,LHβ基因Gly102Ser发生突变的比例显著增加(P=0.003)。结论 PCOS人群中存在LHGly102Ser基因多态性,此多态性与PCOS有明显的相关性。LHβGly102Ser基因多态性可能是PCOS发病的危险因素之一。

Objective：To investigate the relationship between the polymorphisms of the luteinizing hormone β subunit（LH β） Gly102Ser and polycystic ovary syndrome（PCOS） women in China;in addition to the effects on controlled ovarian stimulation in PCOS.Methods：The polymorphism of LHβ Gly102Ser and LHR was detected by restriction fragment length polymorphism-polymerase chain reaction（PCR-RFLP） in 428 PCOS women and 280 control women.Results：708 women,including 428 PCOS and 280 controls were detected by using Restriction fragment length polymorphism-polymerase chain reaction.Mutant LHβ subunit Gly102Ser was found in 17 women which include 14 mutant LHβ（3.3% 14 /428） in PCOS group and 3 in control group.The incidence of mutation in LHβ Gly102Ser was significantly higher in PCOS group than in control group（P = 0.006）,however,no difference was found between PCOS group and control group.Serum LH level was more prone to decrease in mutant group than in the wild group with no statistic difference.The incidence of the mutation in LHβ Gly102Ser was significantly higher in PCOS group which LH lever〈r 2 mIU/ml（P 〈0.01）.Conclusion：There was polymorphism of LHβ Gly102Ser in PCOS women.The incidence of the mutation in LHβ Gly102Ser was significantly higher in PCOS group than in control group.The polymorphism of LHβ Gly102Ser might be involved in pathogenesis of PCOS.