Variants of the CTLA4 gene that segregate with autoimmune diseases are not associated with endometriosis

Paola Viganó, Paola Viganò, D. Lattuada, Debora Lattuada, Edgardo Somigliana, Abbiati A, Annalisa Abbiati, Massimo Candiani, Di Blasio AM, Anna Maria Di Blasio
Molecular human reproduction · 2005 · vol. 11(10) , pp. 745–749 · doi:10.1093/molehr/gah225 · PMID:16373368 · W2146788683
article OA: bronze CC0 ⤵ 12 in-corpus citations
📄 Open PDF View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by gemini-2.5-flash-lite, 2026-06-09 ⓘ

This study found no association between CTLA4 gene variants known to predispose to autoimmune diseases and endometriosis in an Italian population.

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

Abstract

An autoimmune etiology has been suggested for endometriosis mostly on the basis of an increased prevalence of autoimmune diseases in affected women. Cytotoxic T lymphocyte antigen (CTLA) 4 gene is recognized as a primary determinant for autoimmunity since specific polymorphisms have been associated with predisposition to most autoimmune disorders. This study was aimed to evaluate whether two variants of CTLA4 gene might be associated with endometriosis in an Italian population. We examined the +49A/G polymorphism and the CT60A/G dimorphism in n = 146 endometriosis subjects classified according to Holt and Weiss criteria. Controls were represented by n = 165 women without laparoscopic evidence of the disease. We found no statistically significant difference in the genotype frequencies between women with and without endometriosis. The proportion of the mutant G allele of the +49A/G polymorphism in the former and in the latter group resulted 34 and 30%, respectively. The proportion of the susceptible G allele of the CT60 A/G dimorphism resulted 51% in both groups. No association was demonstrated between the polymorphisms and the clinical forms of the disease and no susceptibility haplotypes were found. These findings suggest that endometriosis aetiology is not primarily associated with the development of CTLA4-linked autoimmunity.

My notes (saved in your browser only)

Condition tags

endometriosis

MeSH descriptors

Antigens, CD Antigens, Differentiation Autoimmune Diseases Endometriosis Adult Antigens, CD Antigens, Differentiation Autoimmune Diseases CTLA-4 Antigen Endometriosis Female Gene Frequency Humans Italy Mutation Polymorphism, Single Nucleotide Prospective Studies

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 (37)

Cited by (13)

Source provenance

europepmc
last seen: 2026-08-24T06:08:07.662257+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