Evaluation of clinical parameters and estrogen receptor alpha gene polymorphisms for patients with endometriosis

Stefan P. Renner, S P Renner, Reiner Strick, R Strick, P Oppelt, Peter Oppelt, P A Fasching, Peter A. Fasching, S Engel, R Baumann, René Baumann, M W Beckmann, Matthias W. Beckmann, Pamela L. Strissel, P L Strissel
Reproduction (Cambridge, England) · 2005 · vol. 131(1) , pp. 153–161 · doi:10.1530/rep.1.00787 · PMID:16388018 · W2107511002
article OA: closed CC0 ⤵ 30 in-corpus citations
View on OpenAlex View on PubMed View at publisher

Abstract

Endometriosis is a chronic inflammatory disease, which is especially found in women with subfertility problems with an incidence of up to 30%. The disease is considered an estrogen-dependent disorder, where DNA polymorphisms of the estrogen receptor alpha (ERalpha) in connection with endometriosis are controversially discussed. From a German population of women, clinical data associated with the disease, including the American Fertility Society (AFS) I-IV classification, and non-clinical parameters were evaluated statistically in endometriosis patients (n = 98) and in control women (n = 98) without endometriosis. Using a multivariate statistical analysis, significant associations of endometriosis with dysmenorrhea (P < 0.001) and allergies against medicaments (P = 0.042) were found. A positive trend between first grade family history of endometriosis and allergies against medicaments was also observed, suggesting a genetic relationship. From both collectives, DNA from peripheral blood was analyzed for the frequency of the ERalpha DNA polymorphisms Xba1 (A/G) and PvuII (T/C) in intron 1 and the ERalpha exonic DNA polymorphism (G229A) with an amino acid exchange (Gly77Ser) in the transactivation domain. DNA samples from endometriosis lesions and control tissues from the same collectives were also analyzed for the exonic G229A polymorphism. Only homozygote wild-type alleles for the polymorphism G229A were found, making it a rare polymorphism in mid-European individuals. Allele types for the PvuII and Xba1 polymorphisms were analyzed with the observed statistically significant clinical parameters and showed no significant association with endometriosis; however a trend with AFS IV was noted, which could contribute to lesion severity. In conclusion, the analyzed polymorphisms in the ERalpha do not have a functional role concerning specific clinical parameters associated with endometriosis.

My notes (saved in your browser only)

Condition tags

endometriosisdysmenorrhea

MeSH descriptors

DNA Endometriosis Endometrium Estrogen Receptor alpha Polymorphism, Genetic Adolescent Adult Case-Control Studies DNA Drug Hypersensitivity Endometriosis Endometrium Estrogen Receptor alpha Estrogen Receptor alpha Female Genetic Predisposition to Disease Genome Humans Infertility Middle Aged

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 (53)

Cited by (30)

Source provenance

europepmc
last seen: 2026-06-23T06:15:44.889181+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-05-13T22:15:23.967219+00:00
License: CC0 · commercial use OK