Work

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

Year: 2024

Type: article

Abstract: (1) Background: 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 9,000 infertile Russian men and 286 fertile men (control group); (2) Methods: The CAGn locus was analyzed using the polymorphism of lengths of amplified fragments method; (3) Results: In the infertile cohort, 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 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: 3,000 infertile men. Significant differences (p<0.05) were observed between infertile and fertile men in alleles with 21, 24 and 25 repeats; (4) Conclusions: 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.

Source: International Journal of Molecular Sciences

DOI: 10.3390/ijms252212183