IMR Press / CEOG / Volume 45 / Issue 2 / DOI: 10.12891/ceog3797.2018

Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with S.O.G.

Original Research
Single-nucleotide polymorphisms in ETV5: a risk factor for Sertoli cell-only syndrome in Japanese men?
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1 Department of Obstetrics and Gynecology, School of Medicine, Asahikawa Medical University, Asahikawa, Japan
2 Department of Integrated Cancer Therapy and Urology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan
3 Division of Community Medicine and Epidemiology, Department of Health Science, School of Medicine, Asahikawa Medical University, Asahikawa, Japan
4 Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Clin. Exp. Obstet. Gynecol. 2018, 45(2), 187–189;
Published: 10 April 2018

Purpose of investigation: Approximately 15% of couples are infertile, and male and female factors are believed to be equally important. Genetic mechanisms are implicated in aspects of male infertility and male mice lacking the gene Etv5 exhibited azoospermia with loss of germ cells: a phenotype identical to human Sertoli cell-only syndrome (SCOS). The ETV5 gene family encodes transcription factors sharing the evolutionarily conserved DNA-binding ETS domain. Therefore, the authors hypothesized that ETV5 variants might be associated with azoospermia caused by SCOS. Materials and Methods: ETV5 was sequenced in 140 Japanese men with SCOS and in 116 healthy controls using the Sanger method. Results: Four single-nucleotide polymorphism variants (SNPs 1-4) were detected in the patient group. An association study was performed for patients and controls. Two ETV5 variants, SNP2 and SNP3, were nominally associated with susceptibility to SCOS (p = 0.002 and p < 0.001, respectively). Conclusion: These results indicate a potential role for ETV5 in human spermatogenesis.
Sertoli cell-only syndrome
Single-nucleotide polymorphism
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