Androgen receptor gene cytosine, adenine, and guanine trinucleotide repeats in patients with endometriosis

Debora Lattuada, D. Lattuada, Paola Viganò, Edgardo Somigliana, Odorizzi MP, Maria Paola Odorizzi, Vignali M, Mario Vignali, Di Blasio AM, Anna Maria Di Blasio
Journal of the Society for Gynecologic Investigation · 2004 · vol. 11(4) , pp. 237–240 · doi:10.1016/j.jsgi.2003.11.002 · PMID:15120698 · W2041226162
Observational OA: closed CC0 ⤵ 15 in-corpus citations
View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by gemini-2.5-flash-lite, 2026-06-08 ⓘ

This study investigated the association between androgen receptor gene trinucleotide repeats (cytosine, adenine, and guanine) and the presence of endometriosis in patients.

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

Abstract

OBJECTIVE: A genetic variation in the androgen receptor (AR) has been associated with the risk of developing endometriosis. The AR gene is located on the X chromosome and contains a highly polymorphic trinucleotide repeat (cytosine, adenine, and guanine: CAG) in its first exon, whose length and methylation pattern affect both AR expression and function. Thus, we sought to further investigate the potential association between endometriosis and the AR-CAG polymorphism. METHODS: Genomic DNA was obtained from a consecutive series of 197 white Italian women of reproductive age who underwent laparoscopy for benign gynecologic pathologies. Molecular analysis of AR-CAG repeats was performed by polymerase chain reaction amplification and Genescan evaluation. The pattern of CAG repeat distribution was compared between subjects with and without endometriosis. RESULTS: Endometriosis was documented in 105 women (stage I-II in 33 women and stage III-IV in 72 women). We found no difference in the number of AR-CAG repeats between women with endometriosis and controls. The CAG repeat length ranged from eight to 27 (mean +/- standard deviation, 17.4 +/- 1.9) for endometriosis patients and from 11 to 27 (mean +/- standard deviation, 17.4 +/- 2) for controls. Moreover, no association was found between AR gene polymorphisms and the various clinical manifestations of the disease. CONCLUSION: We conclude that AR-CAG repeat length does not constitute an important factor for the genetic predisposition to endometriosis.

My notes (saved in your browser only)

Condition tags

endometriosis

MeSH descriptors

Adenine Adenine Cytosine Cytosine Endometriosis Guanine Guanine Receptors, Androgen Repetitive Sequences, Nucleic Acid Adult Adult Alleles Alleles Endometriosis Endometriosis Female Female Gene Frequency Gene Frequency Genetic Predisposition to Disease

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 (18)

Cited by (15)

Source provenance

europepmc
last seen: 2026-10-13T06:10:10.580696+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-10-08T21:02:29.018211+00:00
unpaywall
last seen: 2026-10-13T06:25:51.201866+00:00
License: CC0 · commercial use OK