Lazaros L, Xita N, Kaponis A, Zikopoulos K, Sofikitis N, Georgiou I
Genetics and IVF Unit, Department of Obstetrics and Gynaecology, Medical School, University of Ioannina, Ioannina, Greece.
Andrologia. 2008 Jun;40(3):186-91. doi: 10.1111/j.1439-0272.2008.00835.x.
The roles of androgen receptor AR(CAG)n gene polymorphisms and sex hormone-binding globulin SHBG(TAAAA)n gene polymorphisms on semen quality were studied. One hundred fourteen men were included in the study: 85 with normal sperm count and 29 oligospermic. The genotype analysis, on DNA extracted from spermatozoa, revealed five SHBG(TAAAA)n alleles with 6-10 repeats and 18 AR(CAG)n alleles with 12-32 repeats. The SHBG allelic distribution showed that in men with normal sperm count and motility, those with short SHBG alleles had higher sperm concentration than men with long SHBG alleles (P = 0.039). As concerns AR(CAG)n polymorphisms, men with short AR alleles had lower sperm motility compared to those with long AR alleles (P < 0.001) in both total study population and normal sperm count men. The synergistic effect analysis of the two polymorphisms revealed an association between sperm motility (P = 0.036), because of the effect of AR(CAG)n polymorphism on sperm motility. In conclusion, long AR alleles were found to be associated with higher sperm motility, while short SHBG alleles were associated with higher sperm concentration, supporting the significance of these genes in spermatogenesis and semen quality.
研究了雄激素受体AR（CAG）n基因多态性和性激素结合球蛋白SHBG（TAAAA）n基因多态性对精液质量的作用。114名男性纳入研究：85名精子计数正常，29名少精子症患者。对从精子中提取的DNA进行基因型分析，发现5个SHBG（TAAAA）n等位基因，重复6 - 10次，18个AR（CAG）n等位基因，重复12 - 32次。SHBG等位基因分布显示，精子计数和活力正常的男性中，携带短SHBG等位基因者的精子浓度高于携带长SHBG等位基因者（P = 0.039）。关于AR（CAG）n多态性，在整个研究人群和精子计数正常的男性中，携带短AR等位基因者的精子活力低于携带长AR等位基因者（P < 0.001）。两种多态性的协同效应分析显示，由于AR（CAG）n多态性对精子活力的影响，精子活力存在关联（P = 0.036）。总之，发现长AR等位基因与较高的精子活力相关，而短SHBG等位基因与较高的精子浓度相关，支持了这些基因在精子发生和精液质量中的重要性。
