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

Capsule:
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.

Authors:
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

Abstract:

Objective:
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.

Design:
Genetic association study.

Setting:
University.

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

Interventions:
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.

Results:
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.

Conclusions:
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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