Investigation of the mechanisms of spermatogenesis using a comprehensive analysis of genes related to human azoospermia

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We investigated whether the human UBR2, SEPTIN12 and HORMAD1 genes are associated with azoospermia by meiotic arrest using mutational analysis in Japanese patients with azoospermia. We found the genotypic and allelic frequencies of c.1,066A>T variant in UBR2, and the c.204G>C (Gln38His) variant in SEPTIN12 were associated with azoospermia. We also detected three polymorphism sites, SNP1, SNP2 and SNP3 were found in exons 3, 8 and 10 in HORMAD1. Both SNP1 and SNP2 were associated with human azoospermia with meiotic arrest. In addition, mutational analysis of LRWD1 was conducted, and three SNPs were identified in the patients with SCOS. The frequency of the SNP1,2 alleles of LRWD1 were significantly elevated in the SCOS group. Moreover, the genotype and allele frequencies in SNP3, SNP4, and SNP6 of SEPTIN12 were notably higher in the SCOS group than in the control. These results suggest that UBR2, SEPTIN12, HORMAD1and LRWD1 might play critical roles in human spermatogenesis.