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. 2024 Nov 13;25(22):12183.
doi: 10.3390/ijms252212183.

CAG n Polymorphic Locus of Androgen Receptor (AR) Gene in Russian Infertile and Fertile Men

Vyacheslav Chernykh  1   2 , Olga Solovova  1 , Tatyana Sorokina  1 , Maria Shtaut  1 , Anna Sedova  1 , Elena Bliznetz  1 , Olga Ismagilova  1 , Tatiana Beskorovainaya  1 , Olga Shchagina  1 , Aleksandr Polyakov  1
Affiliations

CAG n Polymorphic Locus of Androgen Receptor (AR) Gene in Russian Infertile and Fertile Men

Vyacheslav Chernykh et al. Int J Mol Sci. .

Abstract

The androgen receptor (AR) is critical for mediating the effects of androgens. The polymorphic CAGn locus in exon 1 of the AR gene is associated with several diseases, including spinal and bulbar muscular atrophy (SBMA), prostate cancer, and male infertility. This study evaluated the CAGn locus in 9000 infertile Russian men and 286 fertile men (control group). The CAGn locus was analyzed using the amplified fragment length polymorphism method. In the infertile cohort, the number of CAG repeats ranged from 6 to 46, with a unimodal distribution. The number of CAG repeats in infertile and fertile men was 22.15 ± 0.93 and 22.02 ± 1.36, respectively. In infertile men, variants with 16 to 29 repeats were present in 97% of the alleles. A complete mutation (≥42 CAG repeats) was found in three patients, while three others had 39-41 repeats. The incidence of SBMA was 1:3000 infertile men. Significant differences (p < 0.05) were observed between infertile and fertile men in alleles with 21, 24 and 25 repeats. This study revealed certain differences in the CAGn polymorphic locus of the AR gene in Russian infertile and fertile men and determined the frequency of SBMA in infertile patients.

Keywords: SBMA (Kennedy disease); X chromosome; androgen receptor; fertility; male infertility; pathozoospermia; spermatogenesis; spinal and bulbar muscular atrophy; trinucleotide repeats.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Distribution of CAG repeats in exon 1 of the AR gene in infertile Russian men (n = 9000).
Figure 2
Figure 2
Distribution of CAG repeats in exon 1 of the AR gene in fertile Russian men (controls, n = 286).
See this image and copyright information in PMC

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