FSHβ基因-211G→T多态性与多囊卵巢综合征的相关性研究

An association between polymorphism of FSHβ gene-211G→T and polycystic ovary syndrome

目的探讨卵泡刺激素β亚基(follicle stimulating hormoneβ-subunit,FSHβ)基因-211G→T(rs10835638)单核苷酸多态性与多囊卵巢综合征(polysistic ovary syndrome,PCOS)易感性及临床内分泌代谢特征的关系。方法以2013年3-8月于解放军174医院妇科就诊的254例女性(100例PCOS和154例对照女性)为研究对象。收集所有研究对象年龄、身高、体重等资料,抽取静脉血检测六项生殖激素、空腹血糖、血脂等指标,采用PCR和DNA测序方法,检测FSHβ-211G→T的基因型分布,并分析其与PCOS临床内分泌代谢特征的关联。结果 FSHβ-211G→T的基因型在两组中的分布差异有统计学意义(P<0.05)。PCOS携带FSHβ-211G→T GT基因型的患者较GG基因型患者具有低FSH水平与高LH/FSH(P<0.05);对照组中携带FSHβ-211G→T GT基因型的具有高LH/FSH比值及高总胆固醇水平(P<0.05)。结论 FSHβ-211G→T基因多态性可能是PCOS发病的原因之一。

Objective To study the correlation between polymorphism of follicle stimulating hormone β-subunit （ FSHβ） gene-211 G→T （rs10835638） and susceptibility and clinical endoerinal characteristics of polycystic ovary syndrome （PCOS）. Meth- ods This research performed a case-control study. A total of 254 （ 100 patients with PCOS and 154 controls with tubal factor infertil- ity, matched for age） women were recruited at department of gynecology, 174 hospital of PLA, between March 2013 and August 2013 in the study. Age, body height, weight, reproductive hormone, Fasting blood glucose and fasting serum lipid were obtained. The geno- types of FSHβ-211 G→T polymorphism were determined for all cases by polymerase chain reaction （PCR） and DNA sequencing. Re- sults The FSHβ-211 G→T GT genotype frequency in PCOS was significantly higher than that in controls （ P 〈 0. 05 ）. Within PCOS group, carriers of FSHβ-211 G→T GT genotype had lower FSH levels and higher LH/FSH （ P 〈 0.05 ）. Within control group, carriers of FSHβ-211GT genotype had higher LH/FSH and total cholesterol （TC） levels （ P 〈 0. 05 ）. Conclusion Results suggested FSHβ- 211 G→T mutation might influence PCOS susceptibility and clinical endocrinal characteristics. FSHβ-211G→T is the possible cause of PCOS.