Androgen receptor cytosine, adenine, and guanine trinucleotide repeat polymorphism in Korean patients with endometriosis: A case-control study

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This case-control study investigated the association between androgen receptor trinucleotide repeat polymorphisms (CAG, AAA, and GGN) and endometriosis in Korean patients.

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Abstract

Study objectiveTo investigate the association between the androgen receptor (AR) cytosine, adenine, and guanine (CAG) repeat polymorphisms and endometriosis.Study designA prospective case-control, genetic association study was performed on women with surgically proven endometriosis (n=421) and controls free of endometriosis (n=349). AR CAG repeat lengths were determined from peripheral blood samples. The difference in the frequency of each alleles were compared in patients with endometriosis and controls using Chi-square test.Main resultsNo significant difference in biallelic length mean between patients and controls was observed. Alleles containing 24 CAG repeats were significantly more frequent in stage I-II (mild) endometriosis than in the control samples (19.8% and 13.3%, respectively; OR 1.60, 95% CI 1.04-2.47). Additionally, a higher frequency of both alleles with 24 or more CAG repeats was observed in individuals with mild endometriosis, in comparison with the controls (25.6% and 15.2%, respectively; OR 1.92, 95% CI 1.09-3.38).ConclusionsAR gene CAG repeat polymorphisms are associated with the increased risk of mild endometriosis.

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Condition tags

endometriosis

MeSH descriptors

Adenine Cytosine Endometriosis Guanine Polymorphism, Genetic Receptors, Androgen Trinucleotide Repeats Alleles Case-Control Studies Chi-Square Distribution Endometriosis Endometriosis Female Gene Frequency Genetic Association Studies Genetic Predisposition to Disease Humans Polymerase Chain Reaction Prospective Studies Receptors, Androgen

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