• PMID: 22771031
• Gene Name: ETV5
• Condition: Nonobstructive azoospermia (NOA), Sertoli cell-only (SCO) syndrome
• Association: Associated
• Mutation: ETV5 (homozygous +48845 G>T (TT allele))
• Population size: 447
• Population details: 447 (151 Sertoli cell-only (SCO) syndrome, 296 controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: ETV5
• Other associated phenotypes: Nonobstructive azoospermia (NOA), Sertoli cell-only (SCO) syndrome

Genetic variants in the ETV5 gene in fertile and infertile men with nonobstructive azoospermia associated with Sertoli cell-only syndrome

O'Bryan MK, Grealy A, Stahl PJ, Schlegel PN, McLachlan RI, Jamsai D.

OBJECTIVE: To assess the association between genetic variants in the ETV5 gene with nonobstructive azoospermia (NOA) associated with Sertoli cell-only (SCO) syndrome. DESIGN: Genetic association study. SETTING: University. PATIENT(S): Australian men (65 SCO, 53 NOA, and 242 fertile men) and American men (86 SCO and 54 fertile men). INTERVENTION(S): 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. MAIN OUTCOME MEASURE(S): The localization of ETV5 in the human testis and the presence of ETV5 genetic variants in fertile and infertile men. RESULT(S): 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. CONCLUSION(S): The homozygous +48845 G>T (TT allele) variant confers a higher risk for male infertility associated with NOA and SCO in Australian men. CI - Copyright © 2012 American Society for Reproductive Medicine. All rights reserved. FAU - O'Bryan, Moira K AU - O'Bryan MK AD - Department of Anatomy and Developmental Biology, School of Biomedical Sciences, Faculty of Medicine, Nursing, and Health Sciences, Monash University, Clayton, Victoria, Australia. FAU - Grealy, Alicia AU - Grealy A FAU - Stahl, Peter J AU - Stahl PJ FAU - Schlegel, Peter N AU - Schlegel PN FAU - McLachlan, Robert I AU - McLachlan RI