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.

Volume 98, Issue 4, Pages 827-835.e3, October 2012


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.

  • José Martínez-Jabaloyas

    to the authors for this excellent manuscript about genetic aetiology of
    infertility. The frequency of this
    genetic alteration is low but in the future, investigations like this will
    allow knowing the etiological diagnosis and in basis at this to apply the best
    therapeutic option. In opinion of the
    authors, what kind of patients could be the best candidates in the future to
    this determination? Should it be determined in all patients with non-obstructive
    azoospermia or in any determined subpopulation?

  • NicoGarrido

    Congratulatios to the authors for their work.
    It is very important to describe these genetic variants’ link with infertility, since it is very frequent having patients remained unaware of the possible causes of their lack of sperm.
    this is againa new demonstration that multiple genetic or sperm physiology related defects may be explaining the whole spectrum of male infertility
    further infomation of this genetic link is needed, mainly from other ethnicities, in order to totally address the role of these variants as well as the relevance of having this genetic analyses done, since they can be forwarded to the offspring.

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