Guo Renyong, Zheng Nengneng, Ding Shiping, Zheng Ying, Feng Limin
Diagn Pathol. 2014 Sep 26;9:184. doi: 10.1186/s13000-014-0184-x.
Many epidemiological studies have suggested an association between estrogen receptor-beta (ER-β) polymorphisms with endometriosis risk. However, the results of these studies have been inconsistent. In the present study, we performed a meta-analysis to clarify the associations between the ER-β rs4986938 and rs1256049 polymorphisms and endometriosis risk.
Eligible publications were retrieved from the PubMed, ISI Web of Science, and several Chinese language databases. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using a random or fixed effect model.
A total of eight studies (1100 cases/1485 controls) for the rs4986938 polymorphism and four studies (353 cases/450 controls) for the rs1256049 polymorphism were included in this meta-analysis. Regarding the rs4986938 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, study sample size, endometriosis-associated infertility, and stage of endometriosis, a significantly increased risk was observed among mixed populations (dominant model, OR=2.03, 95% CI=1.56-2.64) and among cases with endometriosis-associated infertility (dominant model, OR=1.83, 95% CI=1.26-2.67). Regarding the rs1256049 polymorphism, no obvious associations were found for all genetic models in the overall population. Subgroup analyses by ethnicity and study sample size revealed that only one study of a mixed population with small sample size showed an increased risk of endometriosis. No publication bias was found in the present study.
The results of this meta-analysis suggest that the ER-β rs4986938 and rs1256049 polymorphisms may not be associated with endometriosis risk, while the observed increased risk of endometriosis-associated infertility may be due to bias by the inclusion of small-scale studies.
The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/13000_2014_184.
许多流行病学研究表明雌激素受体β（ER-β）基因多态性与子宫内膜异位症风险之间存在关联。然而，这些研究结果并不一致。在本研究中，我们进行了一项荟萃分析，以阐明ER-β基因rs4986938和rs1256049多态性与子宫内膜异位症风险之间的关联。
从PubMed、ISI Web of Science和几个中文数据库中检索符合条件的出版物。使用随机或固定效应模型计算合并比值比（OR）及其95%置信区间（CI）。
本荟萃分析纳入了8项关于rs4986938多态性的研究（1100例病例/1485例对照）和4项关于rs1256049多态性的研究（353例病例/450例对照）。对于rs4986938多态性，当所有研究纳入荟萃分析时，在所有遗传模型中均未发现明显关联。在按种族、研究样本量、子宫内膜异位症相关不孕症和子宫内膜异位症分期进行的亚组分析中，在混合人群（显性模型，OR=2.03，95%CI=1.56-2.64）和患有子宫内膜异位症相关不孕症病例中（显性模型，OR=1.83，95%CI=1.26-2.67）观察到风险显著增加。对于rs1256049多态性，在总体人群的所有遗传模型中均未发现明显关联。按种族和研究样本量进行的亚组分析显示，只有一项小样本量的混合人群研究显示子宫内膜异位症风险增加。本研究未发现发表偏倚。
本荟萃分析结果表明，ER-β基因rs498
