Estrogen receptor α dinucleotide repeat and cytochrome P450c17α gene polymorphisms are associated with susceptibility to endometriosis

Hsieh YY, Yao‐Yuan Hsieh, Yao-Yuan Hsieh, Chang CC, Chi-Chen Chang, Tsai FJ, Fuu‐Jen Tsai, Fuu-Jen Tsai, Cheng‐Chieh Lin, Cheng-Chieh Lin, Tsai CH, Chang-Hai Tsai, Chang‐Hai Tsai
Fertility and sterility · 2005 · vol. 83(3) , pp. 567–572 · doi:10.1016/j.fertnstert.2004.07.977 · PMID:15749482 · W2113708054
article OA: closed CC0 ⤵ 30 in-corpus citations
View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by gemini-2.5-flash-lite, 2026-06-06 ⓘ

This study investigated the relationship between dinucleotide repeat polymorphisms in the estrogen receptor α gene and cytochrome P450c17α gene and their association with endometriosis susceptibility.

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

Abstract

ObjectiveTo investigate the association of endometriosis with estrogen receptor alpha (ER alpha) and cytochrome P450c17alpha (CYP17) gene polymorphisms in light of the fact that estrogen plays a role in the pathogenesis of endometriosis and the CYP17 enzyme is involved with estrogen biosynthesis.DesignProspective study.SettingGenetics and gynecology units.Patient(s)All patients were divided into two groups: group 1, women with endometriosis (n = 119); group 2, normal controls (n = 108).Intervention(s)A dinucleotide (thymine-adenine [TA]) repeat polymorphism lying upstream of the ER alpha gene and A1/A2 polymorphism of the CYP17 gene were amplified by polymerase chain reaction, enzyme restriction, and electrophoresis.Main outcome measure(s)The ER genotypes were classified into A through T (TA repeats, 10-29). The CYP17 genotypes included indigestible (A1 homozygote), heterozygote, and digestible (A2 homozygote). We compared these polymorphism distributions in both groups.Result(s)The percentage of genotypes D-G (TA, 13-16) in both groups were 10.5%, 29.4%, 13.0%, and 11.3% in group 1 and 7.9%, 16.7%, 19.9%, and 17.6% in group 2. The genotype E (14 TA repeats) is associated with a higher risk of endometriosis. Proportions of A1 homozygote/heterozygote/A2 homozygote for CYP17 were 26.1%/46.2%/27.7% for group 1 and 14.8%/44.5%/40.7% for group 2, respectively. The A1 homozygote and allele were associated with a higher susceptibility of endometriosis.Conclusion(s)ER alpha* 14 TA repeats and the CYP17* A1 allele are associated with an increased risk of endometriosis. Both polymorphisms are useful markers for predicting endometriosis susceptibility.

My notes (saved in your browser only)

Condition tags

endometriosis

MeSH descriptors

Endometriosis Endometriosis Estrogen Receptor alpha Polymorphism, Single Nucleotide Steroid 17-alpha-Hydroxylase Dinucleotide Repeats Endometriosis Estrogen Receptor alpha Female Genetic Predisposition to Disease Genetic Predisposition to Disease Genotype Heterozygote Homozygote Humans Risk Factors Steroid 17-alpha-Hydroxylase

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 (42)

Cited by (30)

Source provenance

europepmc
last seen: 2026-09-05T06:14:40.014199+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-05-13T22:15:41.664291+00:00
unpaywall
last seen: 2026-09-05T06:29:56.012541+00:00
License: CC0 · commercial use OK