title: HIWI2rs508485 Polymorphism Is Associated with Non-obstructive Azoospermia in Iranian Patients.
abstract: BACKGROUND
  The PIWI-interacting RNA (piRNA) pathway has an essential role in transposon silencing, meiosis progression, spermatogenesis, and germline maintenance.HIWIgenes are critical for piRNA biogenesis and function. Therefore, polymorphisms inHIWIgenes 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 theHIWI2gene rs508485 polymorphism and non-obstructive azoospermia.
  
  
  METHODS
  A total of 121 Iranian men with idiopathic azoospermia and 100 fertile controls were genotyped forHIWI2rs508485 (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).
  
  
  RESULTS
  Thirteen (10.74%) patients showed Y chromosome microdeletions and therefore were excluded from the study. rs508485 in the 3'UTR ofHIWI2was associated with increased risk of azoospermia in our studied population with aP-valueof 0.035 and odds ratio of 2.00 (CI 95%: 1.04-3.86).
  
  
  CONCLUSIONS
  We provide evidence for an association between genetic variation in theHIWI2gene 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.
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Zeeba
authors.initials: Z
authors.lastname: Kamaliyan
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Sara
authors.initials: S
authors.lastname: Pouriamanesh
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mona
authors.initials: M
authors.lastname: Amin-Beidokhti
authors.affiliation: Biology Department, Islamic Azad University, East Tehran Branch, Tehran, Iran.
authors.forename: Amir
authors.initials: A
authors.lastname: Rezagholizadeh
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Mirfakhraie
keywords: HIWI2; Non-obstructive azoospermia; PiRNA; Polymorphism