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

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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.

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Funding

This work was carried out as part of the state assignment of the Ministry of Science and Higher Education of the Russian Federation.

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  1. Research Centre for Medical Genetics, 115522, Moscow, Russia

    L. P. Melikyan, E. A. Bliznetz, A. V. Polyakov, O. L. Mironovich, I. A. Kuznetsova, T. M. Sorokina, M. I. Shtaut, A. O. Sedova, L. F. Kurilo, O. A. Solovova & V. B. Chernykh

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  1. L. P. Melikyan
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  2. E. A. Bliznetz
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  3. A. V. Polyakov
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  4. O. L. Mironovich
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Correspondence to V. B. Chernykh.

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Statement of compliance with standards of research involving humans as subjects. All procedures performed in a study involving people comply with the ethical standards of the institutional and/or national committee for research ethics and the 1964 Helsinki Declaration and its subsequent changes or comparable ethical standards. Informed voluntary consent was obtained from each of the participants.

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Melikyan, L.P., Bliznetz, E.A., Polyakov, A.V. et al. Polymorphism of CAG Repeats in Exon 1 of the Androgen Receptor Gene in Russian Men with Various Forms of Pathozoospermia. Russ J Genet 56, 1000–1005 (2020). https://doi.org/10.1134/S1022795420080104

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