Division of Reproductive Medical Center, West China Second University Hospital of Sichuan University, 3 Duan 20 Hao Ren Min Nan Lu, City of Chengdu, Sichuan 610041, China.
Gene. 2012 Oct 15;508(1):41-8. doi: 10.1016/j.gene.2012.07.049. Epub 2012 Aug 4.
Estrogen receptor-alpha (ER-α) polymorphisms have been hypothesized to be associated with the risk of endometriosis (EMT) development by many epidemiological studies, however, the available results were conflicting. To derive a more precise estimation of association between the ER-α PvuII (T/C) and XbaI (A/G) polymorphisms and risk of EMT, we performed a meta-analysis. Summary odds ratios (ORs) and 95% confidence intervals (95% CIs) for ER-α polymorphisms and EMT were calculated in a fixed-effects model and a random-effects model when appropriate. This meta-analysis included 20 case-control studies with 1752 cases and 1742 controls for PvuII polymorphism and 15 case-control studies with 1349 cases and 1411 controls for XbaI polymorphism. For PvuII T/C polymorphism, no obvious associations were found for all genetic models when all studies were pooled into the meta-analysis. In the subgroup analyses by ethnicity, country, HWE in controls and study sample size, a significantly increased risk was observed among Caucasians (recessive model, OR=2.56, 95% CI=1.06-6.16) and among studies without the HWE (recessive model, OR=1.85, 95% CI=1.20-2.84). For XbaI A/G polymorphism, also no obvious associations were found for all genetic models. In the subgroup analyses by ethnicity, country, HWE in controls and study sample size, still no obvious associations were found. No publication bias was found in the present study. This meta-analysis suggests that ER-α gene PvuII (T/C) and XbaI (A/G) polymorphisms may not be associated with EMT risk, while the observed increase in risk of EMT may be due to small-study bias.
雌激素受体-α（ER-α）多态性被许多流行病学研究假设与子宫内膜异位症（EMT）发展的风险相关，然而，现有结果存在矛盾。为了更精确地评估 ER-α PvuII（T/C）和 XbaI（A/G）多态性与 EMT 风险之间的关联，我们进行了一项荟萃分析。在固定效应模型和随机效应模型中，计算了 ER-α 多态性与 EMT 之间的汇总优势比（OR）和 95%置信区间（95%CI）。该荟萃分析包括 20 项病例对照研究，共纳入 1752 例病例和 1742 例对照，用于 PvuII 多态性；包括 15 项病例对照研究，共纳入 1349 例病例和 1411 例对照，用于 XbaI 多态性。对于 PvuII T/C 多态性，当所有研究纳入荟萃分析时，所有遗传模型均未发现明显关联。在按种族、国家、对照组和研究样本量的 HWE 进行的亚组分析中，在白种人群中观察到风险显著增加（隐性模型，OR=2.56，95%CI=1.06-6.16），在不符合 HWE 的研究中（隐性模型，OR=1.85，95%CI=1.20-2.84）。对于 XbaI A/G 多态性，所有遗传模型也未发现明显关联。在按种族、国家、对照组和研究样本量的 HWE 进行的亚组分析中，仍未发现明显关联。本研究未发现发表偏倚。这项荟萃分析表明，ER-α 基因 PvuII（T/C）和 XbaI（A/G）多态性可能与 EMT 风险无关，而 EMT 风险的增加可能是由于小样本研究偏差所致。
