title: Have androgen receptor gene CAG and GGC repeat polymorphisms an effect on sperm motility in infertile men?
abstract: 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.
authors.affiliation: Andrology Unit, Endocrinology, Department of Clinical and Molecular Sciences, Umberto I Hospital, School of Medicine, Polytechnic University of Marche, Ancona, Italy.
authors.forename: N
authors.initials: N
authors.lastname: Delli Muti
authors.forename: A
authors.initials: A
authors.lastname: Agarwal
authors.forename: E
authors.initials: E
authors.lastname: Buldreghini
authors.forename: A
authors.initials: A
authors.lastname: Gioia
authors.forename: A
authors.initials: A
authors.lastname: Lenzi
authors.forename: M
authors.initials: M
authors.lastname: Boscaro
authors.forename: G
authors.initials: G
authors.lastname: Balercia
mesh_terms: D000483:Alleles; D001483:Base Sequence; D017931:DNA Primers; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011944:Receptors, Androgen / Q000235:genetics*; D013081:Sperm Motility / Q000235:genetics*; D018911:Trinucleotide Repeats
chemical_list: D017931:DNA Primers; D011944:Receptors, Androgen
keywords: Androgen receptor; CAG/GGC repeats; asthenozoospermia; male infertility; sperm motility