en زیست شناسی ملکولی Molecular Biology مقالات اصلی Original Article <p style="text-align: justify;"><strong><em>Background:</em></strong> The PIWI-interacting RNA (piRNA) pathway has an essential role in transposon silencing, meiosis progression, spermatogenesis, and germline maintenance. <em>HIWI</em> genes are critical for piRNA biogenesis and function. Therefore, polymorphisms in <em>HIWI</em> 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 <em>HIWI2</em> gene rs508485 polymorphism and non-obstructive azoospermia.</p> <p style="text-align: justify;"><strong><em>Methods:</em></strong> A total of 121 Iranian men with idiopathic azoospermia and 100 fertile controls were genotyped for <em>HIWI2</em> 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).</p> <p style="text-align: justify;"><strong><em>Results:</em></strong> Thirteen (10.74%) patients showed Y chromosome microdeletions and therefore were excluded from the study. rs508485 in the 3&rsquo;UTR of <em>HIWI2</em> was associated with increased risk of azoospermia in our studied population with a <em>P-value</em> of 0.035 and odds ratio of 2.00 (CI 95%: 1.04-3.86).</p> <p style="text-align: justify;"><strong><em>Conclusions:</em></strong> We provide evidence for an association between genetic variation in the <em>HIWI2</em> 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.</p> HIWI2, Non-obstructive azoospermia. PiRNA, Polymorphism 108 111 http://rbmb.net/browse.php?a_code=A-10-1-74&slc_lang=en&sid=1 Zeeba Kamaliyan 10031947532846006227 10031947532846006227 No Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Sara Pouriamanesh 10031947532846006228 10031947532846006228 No Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Mona Amin-beidokhti 10031947532846006229 10031947532846006229 No Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Amir Rezagholizadeh 10031947532846006230 10031947532846006230 No Biology Department, Islamic Azad University, East Tehran Branch, Tehran, Iran. Reza Mirfakhraie reza_mirfakhraie@yahoo.com 10031947532846006231 10031947532846006231 Yes Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.