• PMID: 21636737
• Gene Name: SEPTIN12
• Condition: Sertoli cell-only syndrome (SCOS)
• Association: Associated
• Mutation: SEPTIN12 8 coding single-nucleotide polymorphisms (SNP1-SNP8)
• Population size: 240
• Population details: 240 (100 patients with SCOS, 140 healthy controlS)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: SEPTIN12
• Other associated phenotypes: Sertoli cell-only syndrome (SCOS)

Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome

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

Genetic mechanisms have been implicated as a cause of some cases of male infertility. Recently, 10 novel genes involved in human spermatogenesis, including human SEPTIN12, were identified by expression microarray analysis of human testicular tissue. Septin12 is a member of the septin family of conserved cytoskeletal GTPases that form heteropolymeric filamentous structures in interphase cells. It is expressed specifically in the testis. Therefore, we hypothesized that mutation or polymorphisms of SEPTIN12 participate in male infertility, especially Sertoli cell-only syndrome (SCOS). To investigate whether SEPTIN12 gene defects are associated with azoospermia caused by SCOS, mutational analysis was performed in 100 Japanese patients by direct sequencing of coding regions. Statistical analysis was performed in patients with SCOS and in 140 healthy control men. No mutations were found in SEPTIN12 ; however, 8 coding single-nucleotide polymorphisms (SNP1-SNP8) could be detected in the patients with SCOS. The genotype and allele frequencies in SNP3, SNP4, and SNP6 were notably higher in the SCOS group than in the control group (P < .001). These results suggest that SEPTIN12 might play a critical role in human spermatogenesis. FAU - Miyakawa, Hiroe AU - Miyakawa H AD - Department of Obstetrics and Gynecology, School of Medicine, Asahikawa Medical University, Asahikawa, Japan. FAU - Miyamoto, Toshinobu AU - Miyamoto T FAU - Koh, Eitetsu AU - Koh E FAU - Tsujimura, Akira AU - Tsujimura A FAU - Miyagawa, Yasushi AU - Miyagawa Y FAU - Saijo, Yasuaki AU - Saijo Y FAU - Namiki, Mikio AU - Namiki M