Polymorphisms in the 3′UTR Region of ESR2 and CYP19A1 Genes in Women With Endometriosis

Tomasz Szaflik, Beata Smolarz, Hanna Romanowicz, Romanowicz H, Magdalena Bryś, Ewa Forma, Krzysztof Szyłło, Szyłło K
European journal of obstetrics, gynecology, and reproductive biology · 2020 · vol. 250 , pp. 241–245 · doi:10.1016/j.ejogrb.2020.05.023 · PMID:32487333 · W3026620598
article OA: closed CC0 ⤵ 4 in-corpus citations
View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This study investigated the association between polymorphisms in the 3'UTR regions of ESR2 and CYP19A1 genes and the risk of endometriosis in women.

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

Abstract

ObjectiveESR2 and CYP19A1 genes play a major role in the hormonal control of women with endometriosis. The aim of the study was to analyze single nucleotide polymorphisms (SNPs) in the 3'UTR region of ESR2 and CYP19A1 genes. The study aimed at localisation of new polymorphisms, the nucleotide variants of which determine the level of susceptibility to endometriosis.Study designThe study included n = 200 patients: 100 with endometriosis and 100 healthy controls. The Sanger's sequencing method was applied for polymorphism analysis.ResultsStatistically significant correlations were identified between new, not previously described, two SNPs of ESR2 gene and endometriosis: rs4986938 (G>A) and rs928554 (A>G). In the case of rs4986938 polymorphism, the genotype AA was found to decrease the risk of endometriosis (OR = 0.24 95 % PU 0.05-1.22, p = 0.04). Analysis of the rs928554 polymorphism revealed that the occurrence of the AG genotype reduced the risk of endometriosis (OR = 0.38 95 % PU 0.21-0.71, p = 0.002). There were no differences in the distribution of genotypes of the polymorphisms rs10046 (C>T) and rs4646 (C>A) of CYP19A1 gene between patients and control.ConclusionsFurther studies are necessary in groups with higher numbers of patients to explain whether the above-mentioned polymorphisms may be the risk factors for endometriosis.

My notes (saved in your browser only)

Condition tags

endometriosis

MeSH descriptors

Endometriosis Endometriosis 3' Untranslated Regions 3' Untranslated Regions Aromatase Aromatase Case-Control Studies Estrogen Receptor beta Estrogen Receptor beta Female Genetic Predisposition to Disease Genotype Humans Polymorphism, Single Nucleotide Risk Factors

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 (38)

Cited by (4)

Source provenance

europepmc
last seen: 2026-08-12T06:07:16.479679+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-05-13T22:21:59.141895+00:00
unpaywall
last seen: 2026-08-12T06:43:03.944938+00:00
License: CC0 · commercial use OK