DENND1A基因多态性与多囊卵巢综合征易感性的Meta分析

目的：探讨DENND1A基因多态性与多囊卵巢综合征(polycystic ovary syndrome，PCOS)发病的相关性。方法：检索PubMed、EMBASE等数据库得到DENND1A基因多态性与PCOS相关性的研究，计算相关基因位点的OR值和95%可信区间(95%CI)。结果：本研究共纳入8篇DENND1A基因多态性的文献，总体人群中rs10818854、rs2479106、rs10986105与PCOS的发病存在相关性；亚组分析表明：亚洲人种中rs10818854、rs10986105的各遗传模型及rs2479106除隐性模型外的遗传模型其合并OR值（95%CI）均大于1.00（P＜0.05）；在欧美人种中rs10818854、rs10986105除隐性模型及加性模型外的3种遗传模型其合并OR值（95%CI）均大于1.00（P＜0.05）；而rs2479106与PCOS的发病无关（P＞0.05）。结论：DENND1A基因多态性与PCOS的发生相关，但存在种族差异，在亚洲人种中rs10818854、rs2479106、rs10986105与PCOS的发病相关，在欧美人种中rs10818854、rs10986105与PCOS的发病相关，rs2479106与PCOS的发病无关联。

Meta-analysis on relationship between DENND1A polymorphisms and polycystic ovary syndrome

Objective: DENND1A has been first reported to be associated with polycystic ovary syndrome (PCOS) susceptibility in Han Chinese by GWAS. However the results of all available studies are inconsistent or controversial. The objective of this study is to explore the association between DENND1A polymorphisms and polycystic ovary syndrome. Methods: The relevant studies were identified through a search of PubMed, Cochrane library, Excerpta Medica Database (Embase),Elsevier Science Direct and Chinese Biomedical Literature Database (CBM) until Jan 2016. The association between DENND1A polymorphisms and polycystic ovary syndrome risk was assessed by odds ratios (ORs) together with their 95%confidence intervals (CIs). Results: A total of eight studies were eventually identified for DENND1A, among which four studies with 6,356 cases and 2,5461 controls included for rs10818854 polymorphism, eight studies including 8,550 cases and 27,806 controls available for rs2479106 polymorphism, and three studies containing 5,405 cases and 24,496 controls for rs10986105 polymorphism. We found a significant association between DENND1A rs10818854, rs2479106 and rs10986105 polymorphisms and polycystic ovary syndrome susceptibility in overall population. In subgroup analysis, similar results were found in Asian, while in Caucasian no significant association was detected between rs2479106 and polycystic ovary syndrome. Conclusion: The present meta-analysis suggests that DENND1A rs10818854, rs2479106, rs10986105 polymorphisms may be associated with polycystic ovary syndrome susceptibility, but there are ethic differences. All these three polymorphisms are risk factors for Asians, while in Caucasian rs2479106 is not related to polycystic ovary syndrome susceptibility. Further large and well-designed studies are needed to confirm this association.