Kamaliyan Zeeba, Pouriamanesh Sara, Amin-Beidokhti Mona, Rezagholizadeh Amir, Mirfakhraie Reza
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Biology Department, Islamic Azad University, East Tehran Branch, Tehran, Iran.
Rep Biochem Mol Biol. 2017 Apr;5(2):108-111.
The PIWI-interacting RNA (piRNA) pathway has an essential role in transposon silencing, meiosis progression, spermatogenesis, and germline maintenance. genes are critical for piRNA biogenesis and function. Therefore, polymorphisms in genes contribute to spermatogenesis defects and can be considered as risk factors for male infertility. The aim of the present study was to investigate the association between the gene rs508485 polymorphism and non-obstructive azoospermia.
A total of 121 Iranian men with idiopathic azoospermia and 100 fertile controls were genotyped for rs508485 (T>C) polymorphism using Tetra-ARMS PCR. The presence of eight sequence-tagged site (STS) markers from the Y chromosome AZF region was also investigated by Multiplex PCR (M-PCR).
Thirteen (10.74%) patients showed Y chromosome microdeletions and therefore were excluded from the study. rs508485 in the 3'UTR of was associated with increased risk of azoospermia in our studied population with a of 0.035 and odds ratio of 2.00 (CI 95%: 1.04-3.86).
We provide evidence for an association between genetic variation in the gene involved in the piRNA pathway and idiopathic non-obstructive azoospermia in Iranian patients. Therefore, piRNA pathway gene variants can be considered as risk factors for male infertility.
PIWI相互作用RNA（piRNA）通路在转座子沉默、减数分裂进程、精子发生和生殖系维持中起重要作用。基因对piRNA的生物合成和功能至关重要。因此，基因中的多态性会导致精子发生缺陷，并可被视为男性不育的危险因素。本研究的目的是调查基因rs508485多态性与非梗阻性无精子症之间的关联。
使用四引物扩增不应变系统聚合酶链反应（Tetra-ARMS PCR）对121名患有特发性无精子症的伊朗男性和100名生育能力正常的对照者进行基因rs508485（T>C）多态性基因分型。还通过多重聚合酶链反应（M-PCR）研究了Y染色体无精子因子（AZF）区域的八个序列标签位点（STS）标记的存在情况。
13名（10.74%）患者显示Y染色体微缺失，因此被排除在研究之外。在所研究的人群中，基因3'非翻译区（3'UTR）的rs508485与无精子症风险增加相关，P值为0.035，比值比为2.00（95%置信区间：1.04-3.86）。
我们提供了证据表明参与piRNA通路的基因的遗传变异与伊朗患者特发性非梗阻性无精子症之间存在关联。因此，piRNA通路基因变异可被视为男性不育的危险因素。
