Delli Muti N, Agarwal A, Buldreghini E, Gioia A, Lenzi A, Boscaro M, Balercia G
Andrology Unit, Endocrinology, Department of Clinical and Molecular Sciences, Umberto I Hospital, School of Medicine, Polytechnic University of Marche, Ancona, Italy.
Andrologia. 2014 Jun;46(5):564-9. doi: 10.1111/and.12119. Epub 2013 Jun 3.
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.
雄激素和正常的雄激素受体（AR）是正常精子发生所必需的。我们研究了意大利精子发生缺陷男性的聚谷氨酰胺（CAG）和聚甘氨酸（GGC）序列。我们研究了一组40名精子发生失败且无Y染色体微缺失的不育男性，并与60名正常精子的男性进行了比较。在白种人群正常范围内，这两种多态性的分布在不育男性和对照组中相似。尽管如此，我们观察到每个CAG等位基因的频率比较显示CAG 22等位基因存在统计学差异；GGC 17在不育男性中比在对照组中更为主导等位基因。此外，为了研究精液特征受雄激素受体等位基因变异影响的假说，我们试图在所有受试者（病例加对照）中检测三联体与精子活力之间的联系。根据计算出的等位基因频率，受试者被分为三组。与较长的CAG和GGC序列相关的精子活力显著降低，并且这两种多态性在各组之间存在明显差异。我们的数据突出了CAG 22/GGC 17等位基因与不育男性精子发生缺陷之间可能存在的关系，表明这些多态性可能对AR功能有重要影响。
