Intron 1 and exon 1 alpha estrogen receptor gene polymorphisms in women with endometriosis

Sato H, Hélio Sato, Naiara C Nogueira-de-Souza, Naiara Correa Nogueira-de-Souza, Nogueira-de-Souza NC, Paulo D’Amora, Paulo D'Amora, Silva ID, Ismael D C G Silva, Manoel Joâo Batista Castello Girão, Manoel J B C Girão, Girão Mj, Schor E, Eduardo Schor
Fertility and sterility · 2008 · vol. 90(6) , pp. 2086–2090 · doi:10.1016/j.fertnstert.2007.10.023 · PMID:18178192 · W2164511328
Observational OA: bronze CC0 ⤵ 8 in-corpus citations
🔓 Open OA copy View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by gemini-2.5-flash-lite, 2026-06-10 ⓘ

This study investigated the association between polymorphisms in the intron 1 and exon 1 regions of the alpha estrogen receptor gene and the presence of endometriosis in women.

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

Abstract

OBJECTIVE: To evaluate the association of intron 1 and exon 1 polymorphisms in the estrogen receptor alpha gene (ER-alpha) with endometriosis in women. DESIGN: Association study. SETTING: Endometriosis Unit, Federal University of São Paulo. PATIENT(S): The control group consisted of volunteers older than 45 years who had no evidence of endometriosis antecedents. Two groups with the disease were evaluated: the first group had stage I or II endometriosis and the second group stage III or IV. INTERVENTION(S): Polymerase chain reaction (PCR) followed by digestion with HaeIII and MspI endonucleases (RFLP) were applied to detect intron 1 and exon 1 polymorphisms, respectively, in a total of 125 controls and 105 affected women. MAIN OUTCOME MEASURE(S): Frequency and distribution of HaeIII and MspI polymorphisms in ER-alpha. RESULT(S): No significant differences in the frequency of polymorphisms either in intron 1 or exon 1 of ER-alpha were found when endometriosis patients were compared with control subjects. Furthermore, the frequency of ER-alpha polymorphisms within the two different groups of patients with disease was statistically similar. The odds ratio between presence of intron 1 single-nucleotide polymorphisms (SNP) and endometriosis was 0.904, and the odds ratio between exon 1 SNP and endometriosis was 0.976. CONCLUSION(S): The evaluated polymorphisms were not associated with endometriosis.

My notes (saved in your browser only)

Condition tags

endometriosis

MeSH descriptors

Endometriosis Estrogen Receptor alpha Exons Exons Introns Introns Polymorphism, Single Nucleotide Polymorphism, Single Nucleotide Adult Adult Case-Control Studies Case-Control Studies Endometriosis Endometriosis Estrogen Receptor alpha Estrogen Receptor alpha Female Female Gene Frequency Gene Frequency

Citation neighborhood (2-hop)

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. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (27)

Cited by (8)

Source provenance

europepmc
last seen: 2026-10-14T06:08:39.101224+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-10-08T21:05:01.267406+00:00
License: CC0 · commercial use OK