• PMID: 21573678
• Gene Name: UBR2
• Condition: Azoospermia, meiotic arrest
• Association: Associated
• Mutation: UBR2 (c.1,066A>T)
• Population size: 110
• Population details: 110 (30 patients with azoospermia by meiotic arrest, 80 normal controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: UBR2
• Other associated phenotypes: Azoospermia, meiotic arrest

Single nucleotide polymorphism in the UBR2 gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest

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

PURPOSE: To investigate the association between the UBR2 gene and the risk of azoospermia caused by meiotic arrest. METHODS: Mutational analysis of the UBR2 gene was performed using DNA from 30 patients with azoospermia by meiotic arrest to 80 normal controls. RESULTS: The genotypic and allelic frequencies of c.1,066A>T variant were significantly higher in patient than control groups (p < 0.001). CONCLUSION: The c.1,066A>T variant in the UBR2 gene is 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, Asahikawa, 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