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.

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

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.

Read the full text at: http://www.fertstert.org/article/S0015-0282(12)00648-6/fulltext