• PMID: 28635411
• Gene Name: RAD21L
• Condition: Azoospermia caused by meiotic arrest and sertoli cell syndrome, Male infertility
• Association: Assocaited
• Population size: 378
• Population details: 378 ( 38 Japanese patients with meiotic arrest, 200 normal controls, 140 patients with Sertoli cell-only syndrome)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermia caused by meiotic arrest and sertoli cell syndrome, Male infertility

Single-nucleotide polymorphisms in the human RAD21L gene may be a genetic risk factor for Japanese patients with azoospermia caused by meiotic arrest and Sertoli cell-only syndrome

Minase G, Miyamoto T, Miyagawa Y, Iijima M, Ueda H, Saijo Y, Namiki M, Sengoku K.

Genetic mechanisms are implicated in some cases of male infertility. Recently, it was demonstrated that male mice lacking the gene for RAD21L exhibited azoospermia caused by meiotic arrest. Mouse RAD21L is a functionally relevant meiotic α-kleisin that is essential for male fertility. Therefore, we hypothesized that RAD21L mutations or polymorphisms may be associated with male infertility, especially azoospermia secondary to meiotic arrest. To determine if RAD21L defects are associated with azoospermia in groups of patients with meiotic arrest, we performed direct sequencing of the RAD21L coding regions in 38 Japanese patients with meiotic arrest and in 200 normal controls. Three coding single-nucleotide polymorphisms (SNP1-SNP3) were detected in the meiotic arrest patient group. Sertoli cell-only syndrome is considered a common cause of non-obstructive azoospermia. For comparison, the RAD21L coding regions in which SNP1-SNP3 were detected were sequenced in 140 patients with Sertoli cell-only syndrome. Statistical analyses were used to compare the two groups of patients with the control group. Genotype and allele frequencies of SNP2 and SNP3 were notably higher in the two patient groups compared with the control group (Bonferroni adjusted p value <0.016). These results suggest a critical role for RAD21L in human spermatogenesis. FAU - Minase, Gaku AU - Minase G AD - a Department of Obstetrics and Gynecology , School of Medicine, Asahikawa Medical University , Asahikawa , Japan. FAU - Miyamoto, Toshinobu AU - Miyamoto T AD - a Department of Obstetrics and Gynecology , School of Medicine, Asahikawa Medical University , Asahikawa , Japan. FAU - Miyagawa, Yasushi AU - Miyagawa Y AD - b Department of Urology , Osaka University Graduate School of Medicine , Suita , Japan. FAU - Iijima, Masashi AU - Iijima M AD - c Department of Integrated Cancer Therapy and Urology , Kanazawa University Graduate School of Medical Science , Kanazawa , Japan. FAU - Ueda, Hiroto AU - Ueda H AD - a Department of Obstetrics and Gynecology , School of Medicine, Asahikawa Medical University , Asahikawa , Japan. FAU - Saijo, Yasuaki AU - Saijo Y AD - d Division of Community Medicine and Epidemiology, Department of Health Science , School of Medicine, Asahikawa Medical University , Asahikawa , Japan. FAU - Namiki, Mikio AU - Namiki M AD - c Department of Integrated Cancer Therapy and Urology , Kanazawa University Graduate School of Medical Science , Kanazawa , Japan.