Feng Chun, Lv Ping-Ping, Yu Tian-Tian, Jin Min, Shen Jin-Ming, Wang Xue, Zhou Feng, Jiang Shi-Wen
Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China.
Department of Reproductive Endocrinology, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, China.
Int J Mol Sci. 2015 Jan 22;16(2):2403-25. doi: 10.3390/ijms16022403.
Polycystic ovary syndrome (PCOS) is the most common gynecological endocrine disorder. The genetic background is believed to play a crucial role in the pathogenesis of PCOS. In recent years, the role of insulin receptor (INSR) polymorphisms in PCOS predisposition has attracted much attention. We performed a meta-analysis to investigate the association between the single nucleotide polymorphisms (SNPs) of INSR and PCOS. Published literature from Pubmed, Embase, and Cochrane CENTRAL was retrieved up until 7 August 2014. A total of 20 case-control studies including 23,845 controls and 17,460 PCOS cases with an average Newcastle-Ottawa quality assessment scale (NOS) score of 6.75 were analyzed. Ninety-eight SNPs distributed in 23 exons and the flanking regions of INSR were investigated, among which 17 SNPs were found to be associated with PCOS. Three SNPs detected in more than three studies were selected for further analyses. Twelve studies including 1158 controls and 1264 PCOS cases entered the analysis of rs1799817, but no significant association was found for every genotype (p > 0.05). Further subgroup stratification by ethnicity and weight did not lead to discovery of significant correlation (p > 0.05). For rs2059806, four studies including 442 controls and 524 PCOS cases were qualified for meta-analysis, and no significant association with PCOS was found for any genotype (p > 0.05). Four studies including 12,830 controls and 11,683 PCOS cases investigated the correlation between rs2059807 and PCOS, and five of the six cohorts indicated a significant impact. Our current meta-analysis suggests no significant correlation between rs1799817/rs2059806 SNPs and susceptibility of PCOS, while rs2059807 could be a promising candidate SNP that might be involved in the susceptibility of PCOS.
多囊卵巢综合征（PCOS）是最常见的妇科内分泌疾病。遗传背景被认为在PCOS的发病机制中起关键作用。近年来，胰岛素受体（INSR）基因多态性在PCOS易感性中的作用备受关注。我们进行了一项荟萃分析，以研究INSR单核苷酸多态性（SNP）与PCOS之间的关联。检索了截至2014年8月7日来自PubMed、Embase和Cochrane CENTRAL的已发表文献。共分析了20项病例对照研究，包括23,845名对照和17,460名PCOS患者，平均纽卡斯尔-渥太华质量评估量表（NOS）评分为6.75。研究了分布在INSR的23个外显子及其侧翼区域的98个SNP，其中17个SNP与PCOS相关。选择在三项以上研究中检测到的三个SNP进行进一步分析。包括1158名对照和1264名PCOS患者的12项研究纳入了rs1799817的分析，但未发现每种基因型有显著关联（p>0.05）。按种族和体重进行的进一步亚组分层未发现显著相关性（p>0.05）。对于rs2059806，包括442名对照和524名PCOS患者的四项研究符合荟萃分析条件，未发现任何基因型与PCOS有显著关联（p>0.05）。包括12,830名对照和11,683名PCOS患者的四项研究调查了rs2059807与PCOS之间的相关性，六个队列中的五个显示有显著影响。我们目前的荟萃分析表明，rs1799817/rs2059806 SNP与PCOS易感性之间无显著相关性，而rs2059807可能是一个有前景的候选SNP，可能与PCOS易感性有关。
