• PMID: 22116646
• Gene Name: SEPTIN12
• Condition: Azoospermia, meiotic arrest
• Association: Associated
• Mutation: c.204G>C (Q38H)
• Population size: 170
• Population details: 170 (30 patients with azoospermia by meiotic arrest, 140 fertile male controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: SEPTIN12
• Other associated phenotypes: Azoospermia, meiotic arrest

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

Miyamoto T, Tsujimura A, Miyagawa Y, Koh E, Namiki M, Horikawa M, Saijo Y, Sengoku K.

PURPOSE: To investigate the association between SEPTIN12 gene variants and the risk of azoospermia caused by meiotic arrest. METHODS: Mutational analysis of the SEPTIN12 gene was performed using DNA from 30 Japanese patients with azoospermia by meiotic arrest and 140 fertile male controls. RESULTS: The frequencies of the c.204G>C (Gln38His) allele and the CC genotype were significantly higher in patients than in fertile controls (p < 0.05). CONCLUSION: The c.204G>C (Gln38His) variant in the SEPTIN12 gene was associated with increased susceptibility to azoospermia caused by meiotic arrest. FAU - Miyamoto, Toshinobu AU - Miyamoto T AD - Department of Obstetrics and Gynecology, Asahikawa Medical University, Midorigaokahigashi 2-1-1-1, Asahikawa, Hokkaido, 078-8510, Japan. toshim@asahikawa-med.ac.jp FAU - Tsujimura, Akira AU - Tsujimura A FAU - Miyagawa, Yasushi AU - Miyagawa Y FAU - Koh, Eitetsu AU - Koh E FAU - Namiki, Mikio AU - Namiki M FAU - Horikawa, Michiharu AU - Horikawa M FAU - Saijo, Yasuaki AU - Saijo Y