DNMT3A 的多态性变异与子宫内膜异位症的风险。
Polymorphic variants of DNMT3A and the risk of endometriosis.
机构信息
Department of Obstetrics, Gynecology and Gynecological Oncology, Division of Reproduction, Poland.
出版信息
Eur J Obstet Gynecol Reprod Biol. 2013 Jan;166(1):81-5. doi: 10.1016/j.ejogrb.2012.09.003. Epub 2012 Sep 25.
OBJECTIVE
Overexpression of DNA methyltransferase 3A (DNMT3A) and aberrant methylation of various genes in eutopic endometrium have been demonstrated in women with endometriosis. We aimed to study whether DNMT3A polymorphisms could be a genetic risk factor for endometriosis and endometriosis-related infertility.
STUDY DESIGN
We studied 5 SNPs (rs2289195, rs7590760, rs13401241, rs749131 and rs1550117) located in the DNMT3A gene in 357 women with endometriosis and 640 controls.
RESULTS
We did not observe significant differences between genotype and allele frequencies of rs2289195, rs7590760, rs13401241, rs749131 and rs1550117 SNPs in women with endometriosis, endometriosis-related infertility, and controls. The lowest p values of the trend test were observed for DNMT3A rs1550117 in endometriosis and endometriosis-related infertility (p(trend)=0.049 and p(trend)=0.055, respectively).
CONCLUSIONS
Our results did not supply evidence for the contribution of SNPs located in DNMT3A to either endometriosis or endometriosis-related infertility.
目的
在子宫内膜异位症患者的在位子宫内膜中已证实 DNA 甲基转移酶 3A（DNMT3A）的过度表达和各种基因的异常甲基化。我们旨在研究 DNMT3A 多态性是否可能成为子宫内膜异位症和子宫内膜异位症相关不孕的遗传风险因素。
研究设计
我们研究了位于 DNMT3A 基因中的 5 个 SNP（rs2289195、rs7590760、rs13401241、rs749131 和 rs1550117），在 357 名子宫内膜异位症患者和 640 名对照中。
结果
我们没有观察到 rs2289195、rs7590760、rs13401241、rs749131 和 rs1550117 SNP 的基因型和等位基因频率在子宫内膜异位症患者、子宫内膜异位症相关不孕和对照组之间存在显著差异。DNMT3A rs1550117 在子宫内膜异位症和子宫内膜异位症相关不孕中的趋势检验的最低 p 值（p(trend)=0.049 和 p(trend)=0.055）。
结论
我们的结果没有提供位于 DNMT3A 中的 SNP 对子宫内膜异位症或子宫内膜异位症相关不孕的贡献的证据。
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