PMID- 29317647
OWN - NLM
STAT- MEDLINE
DCOM- 20181116
LR  - 20190109
IS  - 2045-2322 (Electronic)
IS  - 2045-2322 (Linking)
VI  - 8
IP  - 1
DP  - 2018 Jan 9
TI  - Investigation of piwi-interacting RNA pathway genes role in idiopathic 
      non-obstructive azoospermia.
PG  - 142
LID - 10.1038/s41598-017-17518-4 [doi]
LID - 142
AB  - Genes involved in piwi-interacting RNAs (piRNAs) pathway have an essential role 
      in spermatogenesis. HIWI and TDRD proteins are critical for piRNA biogenesis and 
      function. Therefore, Mutations and polymorphisms in HIWI and TDRD genes may play 
      role in male infertility. The aim of the present study was to investigate the 
      role of HIWI2 rs508485 (T>C) and HIWI3 rs11703684 (C>T) polymorphisms and 
      mutational analysis of TDRD5 gene in idiopathic non-obstructive azoospermia in a 
      case-control study including 226 non-obstructive azoospermia patients and 200 
      fertile males. Genotyping for both polymorphisms was performed using Tetra-Primer 
      ARMS PCR. Mutation analysis of TDRD5 gene was done using multi-temperature single 
      strand conformation polymorphism technique (MSSCP). The frequency of rs508485TC 
      genotype was significantly different in the studied groups (P = 0.0032; 
      OR = 2.12; 95% CI, 1.29-3.48). In addition, the genotype frequencies showed a 
      significant difference under dominant model (P = 0.005; OR = 2.79; 95% CI, 
      1.22-3.13). No mutation was detected in the Tudor domain of the TDRD5 in the 
      studied patients. In conclusion, we provide evidence for association between 
      genetic variation in the HIWI2 gene and idiopathic non-obstructive azoospermia in 
      Iranian patients. Therefore, piRNA pathway genes variants can be considered as 
      risk factors for male infertility.
FAU - Kamaliyan, Zeeba
AU  - Kamaliyan Z
AD  - Department of Medical Genetics, School of Medicine, Shahid Beheshti University of 
      Medical Sciences, Tehran, Iran.
FAU - Pouriamanesh, Sara
AU  - Pouriamanesh S
AD  - Department of Medical Genetics, School of Medicine, Shahid Beheshti University of 
      Medical Sciences, Tehran, Iran.
FAU - Soosanabadi, Mohsen
AU  - Soosanabadi M
AD  - Faculty of Medicine, Semnan University of Medical Sciences, Tehran, Iran.
FAU - Gholami, Milad
AU  - Gholami M
AD  - Department of Medical Genetics, School of Medicine, Shahid Beheshti University of 
      Medical Sciences, Tehran, Iran.
FAU - Mirfakhraie, Reza
AU  - Mirfakhraie R
AUID- ORCID: 0000-0003-1709-8975
AD  - Department of Medical Genetics, School of Medicine, Shahid Beheshti University of 
      Medical Sciences, Tehran, Iran. reza_mirfakhraie@yahoo.com.
AD  - Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, 
      Iran. reza_mirfakhraie@yahoo.com.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20180109
PL  - England
TA  - Sci Rep
JT  - Scientific reports
JID - 101563288
RN  - 0 (RNA, Small Interfering)
SB  - IM
MH  - Adult
MH  - Alleles
MH  - Azoospermia/*genetics
MH  - Case-Control Studies
MH  - Gene Frequency
MH  - *Genetic Association Studies
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Iran
MH  - Male
MH  - Middle Aged
MH  - Odds Ratio
MH  - RNA, Small Interfering/*genetics
MH  - Spermatogenesis/genetics
MH  - Young Adult
PMC - PMC5760646
COIS- The authors declare that they have no competing interests.
EDAT- 2018/01/11 06:00
MHDA- 2018/11/18 06:00
PMCR- 2018/01/09
CRDT- 2018/01/11 06:00
PHST- 2017/06/27 00:00 [received]
PHST- 2017/11/27 00:00 [accepted]
PHST- 2018/01/11 06:00 [entrez]
PHST- 2018/01/11 06:00 [pubmed]
PHST- 2018/11/18 06:00 [medline]
PHST- 2018/01/09 00:00 [pmc-release]
AID - 10.1038/s41598-017-17518-4 [pii]
AID - 17518 [pii]
AID - 10.1038/s41598-017-17518-4 [doi]
PST - epublish
SO  - Sci Rep. 2018 Jan 9;8(1):142. doi: 10.1038/s41598-017-17518-4.