Borjian Boroujeni Parnaz, Firouzi Vida, Zari Moradi Shabnam, Mokhtari Pegah, Dehghankhalili Faezeh, Mollaahmadi Fahimeh, Gourabi Hamid, Sadighi-Gilani Mohammad Ali, Sabbaghian Marjan, Mohseni-Meybodi Anahita
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Andrologia. 2018 Dec;50(10):e13121. doi: 10.1111/and.13121. Epub 2018 Aug 28.
Androgen receptor (AR) mediates androgen activities such as the growth of accessory sex organs, and initiation and promotion of spermatogenesis. There are two trinucleotide polymorphisms (CAG and GGN repeats) in the first exon of AR gene that their association with infertility is still controversial. The variants of both polymorphic repeats were investigated by PCR-Sequencing in 220 infertile men (80 azoospermic, 60 oligospermic and 80 asthenospermic) and 80 healthy fertile controls. AR Expression level was quantified by RT-qPCR on 30 patients (20 patients with nonobstructive azoospermia (NOA) and 10 obstructive azoospermia patients as controls). Our results demonstrated that the medians of CAG and GGN repeats length in infertile group were significantly higher than fertile men (p < 0.05). AR expression results showed a significant increase in SCOS group compared to control (p < 0.05). Long stretches of tandem repeats of AR gene may negatively affect the function of the gene and consequently lead to male infertility. In patients with SCOS, AR expression increases because of the lack of germ cells. Therefore, with increasing AR expression, the probability of SCOS occurrence is also increased. It can be concluded that increasing AR expression in testes tissue decreases the probability of sperm presence.
雄激素受体（AR）介导雄激素的多种作用，如附属生殖器官的生长以及精子发生的起始和促进。AR基因的第一个外显子存在两种三核苷酸多态性（CAG和GGN重复序列），它们与不育症的关联仍存在争议。通过聚合酶链反应测序（PCR-Sequencing）对220名不育男性（80名无精子症患者、60名少精子症患者和80名弱精子症患者）以及80名健康有生育能力的对照者进行了这两种多态性重复序列变异的研究。通过逆转录定量聚合酶链反应（RT-qPCR）对3名患者（20名非梗阻性无精子症患者和10名梗阻性无精子症患者作为对照）的AR表达水平进行了定量分析。我们的结果表明，不育组中CAG和GGN重复序列长度的中位数显著高于有生育能力的男性（p < 0.05）。AR表达结果显示，与对照组相比，唯支持细胞综合征（SCOS）组有显著增加（p < 0.05）。AR基因的长串联重复序列可能会对该基因的功能产生负面影响，从而导致男性不育。在SCOS患者中，由于缺乏生殖细胞，AR表达增加。因此，随着AR表达的增加，SCOS发生的概率也会增加。可以得出结论，睾丸组织中AR表达的增加会降低精子存在的概率。
