title: Association of a TDRD1 variant with spermatogenic failure susceptibility in the Han Chinese.
abstract: OBJECTIVE
  Piwi-interacting RNAs (piRNAs) are a broad group of noncoding small RNAs that have important biological functions in germline cells and can maintain genome integrity via silencing of retrotransposons. In this study, we aimed to explore the associations between genetic variants of important genes involved in piRNA biogenesis and male infertility with spermatogenic impairment.
  
  
  METHODS
  To this end, five single-nucleotide polymorphisms (SNPs) in the ASZ1, PIWIL1, TDRD1, and TDRD9 genes were genotyped by TaqMan allelic discrimination assays in 342 cases of nonobstructive azoospermia (NOA) and 493 controls.
  
  
  RESULTS
  The SNP rs77559927 in TDRD1 was associated with a reduced risk of spermatogenic impairment. The genotypes TC and TC + CC showed odds ratios and 95 % confidence intervals of 0.73 (0.55-0.98, P = 0.034) and 0.73 (0.56-0.97, P = 0.030), respectively, in patients with NOA compared with those in the controls.
  
  
  CONCLUSIONS
  Thus, our results provided the first epidemiological evidence supporting the involvement of TDRD1 genetic polymorphisms in piRNA processing genes in determining the risk of spermatogenic impairment in a Han Chinese population.
authors.affiliation: Department of Urology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, 1630 Dongfang Road, Shanghai, 200127, China.
authors.forename: Xiao-Bin
authors.initials: XB
authors.lastname: Zhu
authors.affiliation: State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, 200438, China.
authors.forename: Jian-Qi
authors.initials: JQ
authors.lastname: Lu
authors.affiliation: Department of Andrology & PFD, Center for Men's Health, Department of ART, Institute of Urology, Urologic Medical Center Shanghai General Hospital, Shanghai Key Lab of Reproductive Medicine, Shanghai Jiao Tong University, Shanghai, 200080, China.
authors.forename: Er-Lei
authors.initials: EL
authors.lastname: Zhi
authors.affiliation: Department of Urology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, 1630 Dongfang Road, Shanghai, 200127, China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Zhu
authors.affiliation: Department of Urology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, 1630 Dongfang Road, Shanghai, 200127, China.
authors.forename: Sha-Sha
authors.initials: SS
authors.lastname: Zou
authors.affiliation: Department of Andrology & PFD, Center for Men's Health, Department of ART, Institute of Urology, Urologic Medical Center Shanghai General Hospital, Shanghai Key Lab of Reproductive Medicine, Shanghai Jiao Tong University, Shanghai, 200080, China.
authors.forename: Zi-Jue
authors.initials: ZJ
authors.lastname: Zhu
authors.affiliation: State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, 200438, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Zhang
authors.affiliation: Department of Andrology & PFD, Center for Men's Health, Department of ART, Institute of Urology, Urologic Medical Center Shanghai General Hospital, Shanghai Key Lab of Reproductive Medicine, Shanghai Jiao Tong University, Shanghai, 200080, China. lizhengboshi@163.com.
authors.forename: Zheng
authors.initials: Z
authors.lastname: Li
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000328:Adult; D060565:Argonaute Proteins / Q000235:genetics; D044466:Asian People / Q000235:genetics; D053713:Azoospermia / Q000151:congenital* / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D018797:Cell Cycle Proteins; D002681:China; D004265:DNA Helicases / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D034741:RNA, Small Interfering / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics
chemical_list: C467810:ASZ1 protein, human; D048868:Adaptor Proteins, Signal Transducing; D060565:Argonaute Proteins; D002352:Carrier Proteins; D018797:Cell Cycle Proteins; C421088:PIWIL1 protein, human; D034741:RNA, Small Interfering; C580566:TDRD1 protein, human; C000615653:TDRD9 protein, human; D004265:DNA Helicases
keywords: Nonobstructive azoospermia; Piwi-interacting RNA; Polymorphism; Spermatogenesis impairment; TDRD1