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雄激素受体基因中的CAG重复序列与约旦不育男性的少精子症和畸形精子症有关。

CAG Repeats in the androgen receptor gene is associated with oligozoospermia and teratozoospermia in infertile men in Jordan.

作者信息

Al Zoubi Mazhar Salim, Bataineh Hamzah, Rashed Mitri, Al-Trad Bahaa, Aljabali Alaa A A, Al-Zoubi Raed M, Al Hamad Mohammad, Issam AbuAlArjah Manal, Batiha Osamah, Al-Batayneh Khalid M

机构信息

Department of Basic Medical Sciences, Faculty of Medicine, Yarmouk University, Irbid, Jordan.

Department of Biological Sciences, Faculty of Science, Yarmouk University, Irbid, Jordan.

出版信息

Andrologia. 2020 Oct;52(9):e13728. doi: 10.1111/and.13728. Epub 2020 Jun 24.

Abstract

CAG trinucleotide repeats are coded for the polyglutamine tract in the N-terminal of the androgen receptor (AR) gene which varies in normal individuals from 6 to 36 residues. In this study, we inspected the impact of the CAG repeats on the spermatogenic defects by measuring the size of AR-CAG repeats length in a cohort of 260infertile and 169 fertile Jordanian men. The infertile group included three subgroups of a zoospermic, oligozoospermic and teratozoospermia men. The CAG allele size was determined by direct sequencing. The results showed a significant association between the length of the AR-CAG repeats and men's infertility (p = .001). In particular, the current cohort demonstrated a significant association between the AR-CAG length polymorphism and oligozoospermia (p < .001) and teratozoospermia (p < .001) but not azoospermia. According to distributions of allele frequency, the risk of oligozoospermia was 5.5-fold greater than normal when alleles frequency > 20 repeats, while the risk of teratozoospermia was > 10.6 folds greater than normal when allele frequency > 22 repeats. In conclusion, our results underscored that the long repeats of the AR-CAG polymorphism within the normal range might be associated with abnormal spermatogenesis such as teratozoospermia and oligozoospermia and contributing to infertility in Jordanian men.

摘要

CAG三核苷酸重复序列编码雄激素受体(AR)基因N端的聚谷氨酰胺序列,正常个体中该序列长度为6至36个残基。在本研究中,我们通过测量260名约旦不育男性和169名约旦生育男性队列中AR - CAG重复序列的长度,来研究CAG重复序列对生精缺陷的影响。不育组包括无精子症、少精子症和畸形精子症三个亚组。通过直接测序确定CAG等位基因大小。结果显示AR - CAG重复序列长度与男性不育之间存在显著关联(p = 0.001)。特别是,当前队列显示AR - CAG长度多态性与少精子症(p < 0.001)和畸形精子症(p < 0.001)之间存在显著关联,但与无精子症无关。根据等位基因频率分布,当等位基因频率>20次重复时,少精子症风险比正常情况高5.5倍;当等位基因频率>22次重复时,畸形精子症风险比正常情况高>10.6倍。总之,我们的结果强调,正常范围内AR - CAG多态性的长重复序列可能与畸形精子症和少精子症等异常精子发生有关,并导致约旦男性不育。

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