褪黑素受体1B基因单核苷酸多态性与多囊卵巢综合征的关系

Association of rs10830963 SNPs in the melation receptor(MTNR IB) gene with polycystic ovary syndrome

目的探讨褪黑素受体1B(MTNR1B)基因单核苷酸多态性与多囊卵巢综合征(Polycystie ovary syndrome,PCOS)发病的关系,以及与PCOS临床特征、内分泌水平及血糖水平之间的关系。方法应用聚合酶链反应-基因直接测序法,对182例PCOS不孕患者及196例因输卵管因素或男方因素不孕的患者,进行MTNR1B基因的rs10830963多态性检测,同时测定基础状态下的相关激素水平及空腹血糖。结果(1)三种基因型及等位基因频率在两组之间的分布,差异均有统计学意义(P<0.05)。(2)在PCOS组中,SNP rsl0830963位点不同基因型妇女的空腹血糖水平比较,差异有统计学意义(P<0.05),BMI、体重、及激素水平,差异无统计学意义(P>0.05)。结论 MTNR1B基因多态性与PCOS的发病相关,rs10830963位点可能是其易感位点,且与PCOS患者空腹血糖水平有一定关系。

Objective The current study was aimed to evaluate the association between MTNR1 B gene polymorphisms and polycystic ovary syndrome.In addition,the relationship of clinical features,endocrine level and glucose levels with PCOS patients would be discussed.Methods The single-nucleotide polymorphisms（SNPS）,rsl0830963,in the MTNRl B gene were detected in 182 PCOS patients and 196 patients under-going IVF who were due to male factor or tubal factor.The single nucleotide polymorphisms（SNPs） were detected through polymerase chain reaction and a direct sequencing protocol.Serum hormone levels and plasma glucose level were detected.Results（1） The difference of CC,GC and GG three-genotype distribution between the two groups had statistical signifi cance（P0.05）.G allele frequency in PCOS group（48.08%） was signifi cantly higher than that in the controls（39.28%）,and it had statistical signifi cance（P0.05）.（2） The SNP,rs10830963 was signifi cantly associated with higher plasma glucose concentrations（P0.05）.There was no significant difference in the clinical and hormone levels in PCOS women with different genotypes in the SNP.Conclusion MTNR1 B gene polymorphism is associated with the pathogenesis of PCOS.The SNP,rsl0830963,in the MTNRl B gene is not only associated with susceptibility to PCOS,but also with the level of fasting plasma glucose of PCOS patients.