title: Genetic variants in the ETV5 gene in fertile and infertile men with nonobstructive azoospermia associated with Sertoli cell-only syndrome.
abstract: OBJECTIVE
  To assess the association between genetic variants in the ETV5 gene with nonobstructive azoospermia (NOA) associated with Sertoli cell-only (SCO) syndrome.
  
  
  METHODS
  Genetic association study.
  
  
  METHODS
  University.
  
  
  METHODS
  Australian men (65 SCO, 53 NOA, and 242 fertile men) and American men (86 SCO and 54 fertile men).
  
  
  METHODS
  Paraffin-embedded human testicular tissue was sectioned and processed for immunofluorescence. Direct DNA sequencing and polymerase chain reaction-based SNP detection were performed to define genetic variants in the ETV5 gene.
  
  
  METHODS
  The localization of ETV5 in the human testis and the presence of ETV5 genetic variants in fertile and infertile men.
  
  
  RESULTS
  ETV5 is localized to the cytoplasm and nucleus of Sertoli and germ cells in adult human testes. We identified six previously reported and six new genetic variants in the ETV5 gene. Of these, the allele frequency of the homozygous +48845 G>T (TT allele) variant was significantly higher in the SCO and NOA Australian men compared with fertile men.
  
  
  CONCLUSIONS
  The homozygous +48845 G>T (TT allele) variant confers a higher risk for male infertility associated with NOA and SCO in Australian men.
authors: Department of Anatomy and Developmental Biology, School of Biomedical Sciences, Faculty of Medicine, Nursing, and Health Sciences, Monash University, Clayton, Victoria, Australia.
authors: Moira K
authors: MK
authors: O'Bryan
authors: Alicia
authors: A
authors: Grealy
authors: Peter J
authors: PJ
authors: Stahl
authors: Peter N
authors: PN
authors: Schlegel
authors: Robert I
authors: RI
authors: McLachlan
authors: Duangporn
authors: D
authors: Jamsai
mesh_terms: D000328:Adult; D017398:Alternative Splicing / Q000235:genetics; D001315:Australia / Q000453:epidemiology; D053713:Azoospermia / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D004268:DNA-Binding Proteins / Q000235:genetics*; D005298:Fertility / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D012322:RNA Precursors / Q000235:genetics; D012307:Risk Factors; D054331:Sertoli Cell-Only Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D013093:Spermatogonia / Q000473:pathology / Q000502:physiology; D013737:Testis / Q000473:pathology / Q000502:physiology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C086680:ETV5 protein, human; D012322:RNA Precursors; D014157:Transcription Factors