Polymorphic variants of DNMT3A and the risk of endometriosis

Małgorzata Szczepańska, Szczepańska M, Malgorzata Szczepańska, Adrianna Mostowska, Wirstlein P, Przemyslaw Wirstlein, Przemysław Wirstlein, Jacek Malejczyk, Rafał Płoski, Jana Skrzypczak, Skrzypczak J, Paweł P. Jagodziński, Paweł P. Jagodzińśki
European journal of obstetrics, gynecology, and reproductive biology · 2012 · vol. 166(1) , pp. 81–85 · doi:10.1016/j.ejogrb.2012.09.003 · PMID:23018098 · W2046065638
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This paper investigated the association between polymorphic variants of DNMT3A and the risk of developing endometriosis.

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Abstract

ObjectiveOverexpression 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 designWe studied 5 SNPs (rs2289195, rs7590760, rs13401241, rs749131 and rs1550117) located in the DNMT3A gene in 357 women with endometriosis and 640 controls.ResultsWe 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).ConclusionsOur results did not supply evidence for the contribution of SNPs located in DNMT3A to either endometriosis or endometriosis-related infertility.

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Condition tags

endometriosis

MeSH descriptors

DNA (Cytosine-5-)-Methyltransferases Endometriosis Infertility, Female Adolescent Adult Case-Control Studies DNA (Cytosine-5-)-Methyltransferases DNA Methyltransferase 3A Endometriosis Endometriosis Female Genetic Predisposition to Disease Humans Infertility, Female Polymorphism, Single Nucleotide Young Adult

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