Analysis of vitamin D receptor gene polymorphisms in women with and without endometriosis

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This study investigated the association between vitamin D receptor gene polymorphisms and endometriosis in women.

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Abstract

An aberrant immunologic mechanism has been suggested to be involved in the pathogenesis of endometriosis. Genetic alterations in the vitamin D receptor gene (VDR) may lead to important defects in gene activation that principally affect immune function. We have hypothesized a possible relationship between endometriosis and/or infertility and the VDR polymorphisms (ApaI, TaqI, FokI, and BmsI). The study was a case-control study including 132 women with endometriosis-related infertility, 62 women with idiopathic infertility, and 133 controls. VDR polymorphisms were studied by restriction fragment length polymorphism. We found relatively similar VDR polymorphism genotype frequencies in cases and controls. When patients with minimal/mild and moderate/severe endometriosis were studied separately, no difference was found. When we compared infertile groups with and without endometriosis there was no statistically significant difference. The data suggest that VDR polymorphisms did not play an important role in the pathogenesis of endometriosis and/or infertility in the Brazilian women studied.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Polymorphism, Genetic Receptors, Calcitriol Adult Adult Brazil Brazil Endometriosis Endometriosis Female Female Gene Frequency Gene Frequency Genetic Predisposition to Disease Genetic Predisposition to Disease Genotype Genotype Humans Humans Linkage Disequilibrium

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References (30)

Cited by (26)

Source provenance

europepmc
last seen: 2026-10-12T06:17:10.165071+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-10-08T21:08:28.697392+00:00
unpaywall
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License: CC0 · commercial use OK