Polymorphism of CAG Repeats in Exon 1 of the Androgen Receptor Gene in Russian Men with Various Forms of Pathozoospermia

Abstract

CAGn polymorphism in exon 1 of the androgen receptor (AR/HUMARA) gene is associated with pathozoospermia and male infertility, but its effect on spermatogenesis and male fertility is not well understood. The article presents the results of a study of CAG repeats polymorphism of the AR gene in Russian patients with pathozoospermia (n = 591), fertile men (n = 286), and normozoospermic men/control (n = 131). Comparative analysis showed no significant differences in frequencies of “medium” (n = 19–25), “long” (n ≥ 26), and “short” (n ≤ 18) alleles between groups of patients with various forms of pathozoospermia. Statistically significant (p < 0.01) differences were found between the group with severe oligozoospermia and the control for the prevalence of “long” and “short” CAG alleles, as well as for the frequency of CAGn = 25 allele between azoospermic (18.1%) and severe oligozoospermic (2.6%) men.