• PMID: 23725463
• Gene Name: AR
• Condition: Spermatogenetic defects, Male infertility
• Association: A significantly decreased motility, related to a longer CAG and GGC tracts, and marked differences between the groups exist for both polymorphisms. Our data highlight a probable relationship between the allele CAG 22/GGC 17 and a defective spermatogenesis
• Population size: 100
• Population details: 100 (40 infertile men with spermatogenesis failure without Y-chromosome microdeletions, 60 normozoospermic ones)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Spermatogenetic defects, Male infertility

Have androgen receptor gene CAG and GGC repeat polymorphisms an effect on sperm motility in infertile men?

Delli Muti N, Agarwal A, Buldreghini E, Gioia A, Lenzi A, Boscaro M, Balercia G.

Androgens and a normal androgen receptor (AR) are required for normal spermatogenesis. We investigated polyglutamine (CAG) and a polyglycine (GGC) tract in Italian men with defective spermatogenesis. We studied a group of 40 infertile men with spermatogenesis failure without Y-chromosome microdeletions compared with 60 normozoospermic ones. The distributions of both polymorphisms, within the normal range of Caucasian populations, were similar among infertile men and controls. Nonetheless, we observed that the frequency comparison of each CAG allele showed a statistical difference in the allele CAG 22; GGC 17 was the more predominant allele in infertile men than in controls. Moreover, to investigate the hypothesis that semen characteristics are perturbed by androgen receptor allele variants, we tried to detect a link between triplets and sperm motility in all subjects (cases plus controls). Subjects were subdivided into three groups, based on calculated allele frequencies. A significantly decreased motility, related to a longer CAG and GGC tracts, and marked differences between the groups exist for both polymorphisms. Our data highlight a probable relationship between the allele CAG 22/GGC 17 and a defective spermatogenesis in infertile men, suggesting that these polymorphisms might have an important effect on AR function. CI - © 2013 Blackwell Verlag GmbH. FAU - Delli Muti, N AU - Delli Muti N AD - Andrology Unit, Endocrinology, Department of Clinical and Molecular Sciences, Umberto I Hospital, School of Medicine, Polytechnic University of Marche, Ancona, Italy. FAU - Agarwal, A AU - Agarwal A FAU - Buldreghini, E AU - Buldreghini E FAU - Gioia, A AU - Gioia A FAU - Lenzi, A AU - Lenzi A FAU - Boscaro, M AU - Boscaro M