Polymorphic variants of DNMT3A and the risk of endometriosis

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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

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.

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Condition tags

endometriosis

MeSH descriptors

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

Citation neighborhood (2-hop)

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (50)

Cited by (5)

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europepmc
last seen: 2026-10-14T06:08:39.101224+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-10-08T21:10:53.858194+00:00
License: CC0 · commercial use OK