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

We showed that the homozygous +48845 G>T (TT allele) variant in the ETV5 gene is associated with Sertoli cell–only (SCO) syndrome and nonobstructive azoospermia (NOA) in Australian men.


Moira K. O'Bryan, Ph.D., Alicia Grealy, B.Sc., Peter J. Stahl, M.D., Peter N. Schlegel, M.D., Robert I. McLachlan, M.D., Duangporn Jamsai, Ph.D.

Vol 98, Issue 4, Pages 827-835.e3



To assess the potential for an association between genetic variants in the ETV5 gene with non-obstructive azoospermia (NOA) associated with Sertoli cell only (SCO) syndrome.


Genetic association study.




Australian men (65 SCO, 53 NOA, and 242 fertile men) and American men (86 SCO men and 54 fertile men).


Paraffin-embedded human testicular tissue was sectioned and processed for immunofluorescence. Direct DNA sequencing and PCR-based SNP detection method were performed to define genetic variants in the ETV5 gene.

Main Outcome Measure:

The localization of ETV5 in the human testis and the presence of ETV5 genetic variants in fertile and infertile men.


ETV5 is localized to the cytoplasm and nucleus of Sertoli and germ cells in adult human testis. We identified 6 previously reported and 6 new genetic variants in the ETV5 genes. 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 to fertile men.


The homozygous +48845 G>T (TT allele) variant confers a higher risk for male infertility associated with NOA and SCO in Australian men.

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