钙蛋白酶10基因多态性与多囊卵巢综合征  

Association of CAPN-10 SNPs with Polycystic Ovary Syndrome

作　　者：邓妙[1] 刘元伟[1] 张红艳[1] 岑加萍 张治芬[1] 

机构地区：[1]杭州市第一人民医院妇科,310000

出　　处：《国际妇产科学杂志》2014年第4期469-472,共4页Journal of International Obstetrics and Gynecology

基　　金：浙江省科技计划项目(2009C33114)

摘　　要：多囊卵巢综合征(polycystic ovarian syndrome,PCOS)是女性常见的内分泌疾病,其家族聚集现象提示遗传因素的作用。近年研究认为,胰岛素抵抗(insulin resistance,IR)是PCOS病理生理的中心环节,多数PCOS患者存在IR。钙蛋白酶10(calpain-10,CAPN-10)基因是第1个被定位克隆的与2型糖尿病(type-2 diabetes mellitus,T2DM)有关的基因,该基因的变异与IR的发生有关,并影响T2DM的遗传易感性。因为PCOS与T2DM有共同的IR机制,CAPN-10也成为PCOS的重要候选基因。造成疾病遗传易感性差异的根本原因是基因组序列和修饰上的差异。其中,单核苷酸多态性(single nucleotide polymorphisms,SNP)引起的变异占90%。目前,SNP数据库(data base of SNP,dbSNP)已列出521个人类CAPN-10 SNP位点。综述CAPN-10与PCOS的研究现况,特别是CAPN-10 SNP与PCOS的研究进展。Polycystic ovary syndrome （PCOS） is a common endocrine disease in women. The phenomenon of familial aggregation suggests the role of genetic factors. Recent studies revealed that insulin resistanc （IR） played an important role in the pathophysiology of PCOS,most of the PCOS patients suffered from IR. Calpain-10 gene（CAPN-10） was the first positional cloned gene that was associated with type-2 diabetes mellitus （T2DM）. Its mutation was relevant to IR, which affected the genetic susceptibility of T2DM. Due to the common mechanism of IR, CAPN-10 became an important candidate gene for PCOS. And difference in the genome sequence and modification was the fundamental reason for the difference of genetic susceptibility, in which the variation of single nucleotide polymorphisms （SNP） caused by 90%. Currently, data base of SNP （dbSNP） had listed 521 human CAPN-10 SNP locus. Now we will summarise the current status and progress in between CAPN-10 and PCOS.

关 键 词：多囊卵巢综合征 半胱氨酸内肽酶类 多态性 单核苷酸 胰岛素抗药性 糖尿病 2型 

分 类 号：R711.75[医药卫生—妇产科学]