Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility

Małgorzata Szczepańska, Szczepańska M, Malgorzata Szczepańska, Adrianna Mostowska, Wirstlein P, Przemyslaw Wirstlein, Przemysław Wirstlein, Margarita Lianeri, Lianeri M, Piotr Marianowski, Jana Skrzypczak, Skrzypczak J, Paweł P. Jagodzińśki, Paweł P. Jagodziński
European journal of obstetrics, gynecology, and reproductive biology · 2011 · vol. 157(1) , pp. 67–72 · doi:10.1016/j.ejogrb.2011.02.003 · PMID:21429654 · W1968533183
article OA: closed CC0 ⤵ 7 in-corpus citations
View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by gemini-2.5-flash-lite, 2026-06-07 ⓘ

This study investigated the association between genetic variations in folate and choline metabolism pathways and the risk of infertility in women with endometriosis.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

Abstract

ObjectiveEndometriosis has been considered an epigenetic disease. Single nucleotide polymorphisms (SNPs) located in genes encoding enzymes of the folate and choline metabolism may affect DNA methyltransferase activity.Study designWe studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women.ResultsThere were no significant differences between genotype and allele frequencies of these gene variants in infertile women with endometriosis (n=163) and controls (n=150). The lowest, but not statistically significant, p values of the trend test were observed for the CBS 844ins68 and MTR rs1805087 (ptrend=0.0527 and ptrend=0.0771, respectively) polymorphisms. However, the exhaustive multifactor dimensionality reduction analysis revealed an epistatic interaction between rs1801133 of MTHFR and rs4244593 of PEMT in endometriosis-associated infertility (p=0.0240).ConclusionsOur results showed moderate evidence for the contribution of SNPs located in genes encoding folate and choline metabolism enzymes to infertility in women with endometriosis.

My notes (saved in your browser only)

Condition tags

endometriosisinfertility

MeSH descriptors

Choline Endometriosis Folic Acid Infertility, Female Methylenetetrahydrofolate Reductase (NADPH2) Phosphatidylethanolamine N-Methyltransferase Polymorphism, Single Nucleotide Adult Choline Endometriosis Endometriosis Female Folic Acid Gene Frequency Genetic Association Studies Humans Infertility, Female Methylenetetrahydrofolate Reductase (NADPH2) Multifactor Dimensionality Reduction Phosphatidylethanolamine N-Methyltransferase

Citation neighborhood

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. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (45)

Cited by (7)

Source provenance

europepmc
last seen: 2026-08-15T06:15:18.721777+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-05-13T22:16:48.482574+00:00
unpaywall
last seen: 2026-08-15T06:29:46.044917+00:00
License: CC0 · commercial use OK