多囊卵巢综合征患者胰岛素受体基因外显子17多态性的研究

Polymorphism of exon 17 of INSR gene in polycystic ovary syndrome

目的探讨胰岛素受体(INSR)基因外显子17多态性与多囊卵巢综合征(PCOS)发病的关系。方法应用聚合酶链反应限制性内切酶片段长度多态性分析(PCR-RFLP)法对中国汉族96例PCOS患者和56例对照者INRS基因外显子17第1,058位点的多态性进行检测,分析并比较INRS基因外显子17第1,058位点T、C等位基因频率与PCOS胰岛素抵抗、高雄激素血症之间的关系。结果 (1)PCOS患者INSR基因外显子17第1,058位点T等位基因出现频率为41.7%,明显高于正常对照组的14.3%(P<0.05)。(2)PCOS患者出现T等位基因者的体重指数(BMI)明显低于出现C等位基因患者(P<0.05)。(3)PCOS胰岛素抵抗组与非胰岛素抵抗组T、C等位基因出现频率无统计学差异(P>0.05)。(4)PCOS高雄激素组与无高雄激素组INSR基因T、C等位基因频率无统计学差异(P>0.05)。结论 INSR基因17外显子C/T单核酸多态性与PCOS患者肥胖密切相关,与PCOS的高雄激素血症、胰岛素抵抗(IR)无明显关系。认为INSR基因第17外显子C/T单核酸多态性仅系PCOS的一个易感基因,对PCOS的发病无决定性作用。

Objective： To investigate the correlation of exon 17 polymorphism in insulin receptor （INSR）gene and polycystic ovary syndrome （PCOS）. Methods： Single nucleotide polymorphism of the 17 exon of insulin receptor gene in 96 patients with PCOS and 56 normal women as controls were measured with polymerase chain and reaction and restriction fragment length polymorphisms assay （PCR-RFLP）. The clinical characteristics included body mass index （BMI） , the levels of fasting plasma glucose （FPG）, fasting insulin （FINS） and testosterone （T） of the subjects were detected. The correlation between C/T single nucleotide polymorphism at exon 17 of INSR and the BMI, insulin resistance, hyperandrogenmia were analyzed. Results. （1） C/ T.single nucleotide polymorphism frequency at exon 17 of INSR in patients with PCOS（41.7%） was higher than that in the controls （14.3%）（P〈0.05）. （2） In patients with PCOS, BMI in patients with T allele （25.21±4.47） of INSR single nucleotide polymorphism was lower than with C allele （26.81±3.20）（P〈0.05）. （3） C/ T single nueleotide polymorphism frequency at the exon 17 of INSR had no significantly difference with/without insulin resistance or with/without hyperandrogenemia （P〉0.05）. Conclusion： C/ T single nucleotide polymorphism of the 17 exon of insulin receptor gene was correlated with polycystic ovary syndrome. T allele higher occurrence frequency was associated with fat,but was not associated with insulin resistance or hyperandrogenemia. The 1, 058 site nucleotide polymorphism of INsR is only a susceptibility gene. It did not play determinate effect on the pathogenesis process of PCOS.