Association of estrogen receptor gene polymorphisms with endometriosis

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AI-generated summary by claude@2026-06, 2026-06-06

This paper investigates the relationship between variations in the estrogen receptor gene and the occurrence of endometriosis.

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Abstract

ObjectiveTo explore the association of the estrogen receptor two-allele (point) polymorphism and multiallele (microsatellite) polymorphism with endometriosis.DesignCase-control study.SettingGenetics and Endoscopy Unit, Department of Obstetrics and Gynecology, Ioannina University HOSPITAL, Ioannina, Greece.Patient(s)Fifty-seven women with surgically and histologically diagnosed endometriosis of stages I-IV.Intervention(s)Diagnostic laparoscopy.Main outcome measure(s)Frequency and distribution of the estrogen receptor gene polymorphisms.Result(s)There was a statistically significant difference between the patients and the controls in the frequency of the two-allele Pvu II polymorphism (0.72 vs. 0.49) and in the median repeats of the (TA)n multiallele polymorphism (15 vs. 20 repeats). In both groups, linkage was found between the fewer (TA)n repeats (range, 12-19) and the positive Pvu II polymorphism.Conclusion(s)The variability of the estrogen receptor gene likely contributes to the pathogenesis of endometriosis.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Polymorphism, Genetic Receptors, Estrogen Adult Alleles Case-Control Studies Endometriosis Female Gene Frequency Genetic Linkage Homozygote Humans Polymorphism, Genetic Receptors, Estrogen Repetitive Sequences, Nucleic Acid

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Cited by (50)

Source provenance

europepmc
last seen: 2026-07-27T06:15:28.040536+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-05-13T22:10:24.024533+00:00
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