Fan Wei, Huang Zhongying, Xiao Zhun, Li Shangwei, Ma Qianhong
Center of Reproductive Medicine, The West China Second University Hospital, Sichuan University, Sichuan, People's Republic of China.
J Assist Reprod Genet. 2016 Oct;33(10):1373-1383. doi: 10.1007/s10815-016-0783-4. Epub 2016 Aug 15.
Cytochrome P450 1A1 (CYP1A1) polymorphisms were implicated in endometriosis risk, but individual published studies showed inconclusive results. Thus, a meta-analysis was performed to clarify the effect of CYP1A1 polymorphisms on endometriosis risk.
PubMed, Embase, and CNKI databases were searched to identify the eligible studies focusing on the associations between CYP1A1 MspI and Ile462Val polymorphisms and susceptibility to endometriosis. Summary odds ratios (ORs) and 95 % confidence intervals (95 % CIs) for CYP1A1 polymorphisms and endometriosis were calculated.
Pooled analysis of 12 studies involved a total of 1555 cases and 2868 controls showed that in all genetic models, no significant association between CYP1A1 MspI polymorphism and endometriosis risk was observed in the overall, Asians and Caucasians population, respectively. Interestingly, increased endometriosis risk was associated with carrying the C allele of CYP1A1 combined with GSTM1 null genotypes. For CYP1A1 Ile462Val polymorphism, eight studies were available (878 cases and 1991 controls). In the overall analysis, CYP1A1 Ile462Val polymorphism had a statistically significant association with increased endometriosis risk in allele contrast and all genetic models except the model of Val/Ile vs. Ile/Ile. In the subgroup analysis by ethnicity, significant elevated endometriosis risk was associated with CYP1A1 Ile462Val polymorphism in Asians but not in Caucasians under all genetic models. No publication bias was found in the present studies.
This meta-analysis suggested that CYP1A1 Ile462Val polymorphism was associated with an increased risk of endometriosis, particularly in Asians. CYP1A1 MspI polymorphism may not be associated with endometriosis risk, but GSTM1 and CYP1A1 MspI polymorphism may have a joint effect on endometriosis risk.
细胞色素P450 1A1（CYP1A1）基因多态性与子宫内膜异位症风险有关，但个别已发表的研究结果并不确定。因此，进行了一项荟萃分析以阐明CYP1A1基因多态性对子宫内膜异位症风险的影响。
检索PubMed、Embase和中国知网数据库，以确定关注CYP1A1 MspI和Ile462Val基因多态性与子宫内膜异位症易感性之间关联的合格研究。计算CYP1A1基因多态性与子宫内膜异位症的汇总比值比（OR）和95%置信区间（95%CI）。
对12项研究（共1555例病例和2868例对照）的汇总分析表明，在所有遗传模型中，在总体人群、亚洲人群和白种人群中，均未观察到CYP1A1 MspI基因多态性与子宫内膜异位症风险之间存在显著关联。有趣的是，携带CYP1A1的C等位基因与GSTM1无效基因型会增加子宫内膜异位症风险。对于CYP1A1 Ile462Val基因多态性，有八项研究（878例病例和1991例对照）。在总体分析中，除Val/Ile与Ile/Ile模型外，CYP1A1 Ile462Val基因多态性在等位基因对比和所有遗传模型中与子宫内膜异位症风险增加具有统计学显著关联。在按种族进行的亚组分析中，在所有遗传模型下，亚洲人中CYP1A1 Ile462Val基因多态性与子宫内膜异位症风险显著升高相关，而白种人则不然。本研究未发现发表偏倚。
这项荟萃分析表明，CYP1A1 Ile46（此处原文有误，应为Ile462）Val基因多态性与子宫内膜异位症风险增加有关，尤其是在亚洲人中。CYP1A1 MspI基因多态性可能与子宫内膜异位症风险无关，但GSTM1和CYP1A1 MspI基因多态性可能对子宫内膜异位症风险有联合作用。
