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Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese

Toshinobu Miyamoto1, Akira Tsujimura, Yasushi Miyagawa

  • 1Department of Obstetrics and Gynecology, Asahikawa Medical University, Midorigaokahigashi 2-1-1-1, Asahikawa, Hokkaido, 078-8510, Japan. toshim@asahikawa-med.ac.jp

Journal of Assisted Reproduction and Genetics
|November 26, 2011
PubMed
Abstract

Insights

Genetic variants in the SEPTIN12 gene are linked to a higher risk of azoospermia caused by meiotic arrest. Specifically, the c.204G>C (Gln38His) variant increases susceptibility in males.

Area of Science:

  • Genetics
  • Reproductive Biology
  • Human Health

Background:

  • Azoospermia, characterized by a complete absence of sperm, is a significant cause of male infertility.
  • Meiotic arrest, a failure in sperm cell division, is a key factor contributing to certain types of azoospermia.
  • Understanding the genetic underpinnings of meiotic arrest is crucial for diagnosing and potentially treating male infertility.

Purpose of the Study:

  • To investigate the potential association between variations in the SEPTIN12 gene and the risk of developing azoospermia due to meiotic arrest.
  • To identify specific SEPTIN12 gene variants that may predispose individuals to this condition.

Main Methods:

  • DNA samples were collected from 30 Japanese male patients diagnosed with azoospermia resulting from meiotic arrest.
  • A control group consisted of 140 fertile males without azoospermia.
  • Mutational analysis of the SEPTIN12 gene was conducted on all participants' DNA samples.

Main Results:

  • The study identified a specific variant, c.204G>C (Gln38His), within the SEPTIN12 gene.
  • The allele frequency of c.204G>C and the corresponding CC genotype were found to be significantly higher in patients with meiotic arrest-induced azoospermia compared to fertile controls.
  • Statistical analysis confirmed the significance of these findings (p < 0.05).

Conclusions:

  • The c.204G>C (Gln38His) variant in the SEPTIN12 gene is associated with an increased susceptibility to azoospermia caused by meiotic arrest.
  • This genetic variant may serve as a potential biomarker for identifying individuals at higher risk for this specific type of male infertility.
  • Further research is warranted to elucidate the precise mechanism by which SEPTIN12 variants contribute to meiotic arrest.

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