• PMID: 9598492
• Gene Name: HLA-E
• Condition: Idiopathic azoospermia
• Association: In Japanese men with idiopathic azoospermia the frequency of HLA-A33, B13 and B44 was significantly increased compared with controls. The relative risk of HLA-B44 was 8.4, an extremely high value compared with that of other diseases and HLA antigens.
• Mutation: HLA-A33, B13 and B44
• Population details: 65 infertile men with idiopathic azoospermia, 1,216 healthy men
• Sex: Male
• Infertility type: Male infertility
• Associated genes: HLA-A33, B13 and B44
• Other associated phenotypes: Idiopathic azoospermia

Susceptibility to idiopathic azoospermia in Japanese men is linked to HLA class I antigen

Miura H, Tsujimura A, Nishimura K, Kitamura M, Kondoh N, Takeyama M, Fujioka H, Sada M, Tsuji T, Matsumiya K, Takahara S, Okuyama A.

PURPOSE: Approximately 15 to 20% of infertile men have azoospermia. In the Y chromosome a deletion, termed the azoospermic factor, has been found in some cases of idiopathic azoospermia. We investigate the relationship of factors in autosomal chromosomes (HLA class I antigens) to spermatogenesis failure in idiopathic azoospermia. MATERIALS AND METHODS: We evaluated 65 infertile Japanese men with idiopathic azoospermia. The frequency of the HLA allele reported in 1,216 healthy Japanese men was used as a control. HLA class I typing was performed by the National Institutes of Health standard serological method or polymerase chain reaction-sequence specific primer analysis. Allele frequencies were calculated. We determined statistical significance in the frequency of each allele in patients and controls using the chi-square test. The relationship of HLA antigens to idiopathic azoospermia was expressed as relative risk. RESULTS: In Japanese men with idiopathic azoospermia the frequency of HLA-A33, B13 and B44 was significantly increased compared with controls. The relative risk of HLA-B44 was 8.4, an extremely high value compared with that of other diseases and HLA antigens. CONCLUSIONS: We suggest that HLA class I antigens are important genetic markers that represent a risk factor for idiopathic azoospermia. FAU - Miura, H AU - Miura H AD - Department of Urology, Osaka Police Hospital, Japan. FAU - Tsujimura, A AU - Tsujimura A FAU - Nishimura, K AU - Nishimura K FAU - Kitamura, M AU - Kitamura M FAU - Kondoh, N AU - Kondoh N FAU - Takeyama, M AU - Takeyama M FAU - Fujioka, H AU - Fujioka H FAU - Sada, M AU - Sada M FAU - Tsuji, T AU - Tsuji T FAU - Matsumiya, K AU - Matsumiya K FAU - Takahara, S AU - Takahara S