• PMID: 14718045
• Gene Name: HLA-DQB1
• Condition: Severe spermatogenic impairment
• Association: While the DRB1*1302-DQB1*0604 haplotype acts independently from Y chromosome deletion, the haplotype might either act directly, or be functionally related to an unknown autosomal gene. In either case, this haplotype showed association with severe spermato
• Mutation: HLA-DRB1*1302-DQB1*0604 allele
• Sex: Male
• Infertility type: Male infertility
• Associated genes: HLA-DRB1, HLA- DQB1
• Other associated phenotypes: Severe spermatogenic impairment

Susceptibility gene for non-obstructive azoospermia in the HLA class II region: correlations with Y chromosome microdeletion and spermatogenesis

Takao T, Tsujimura A, Sada M, Goto R, Koga M, Miyagawa Y, Matsumiya K, Yamada K, Takahara S, Okuyama A.

We previously reported an association between the human leukocyte antigen (HLA) haplotype DRB1*1302-DQB1*0604 in the HLA class II region and non-obstructive azoospermia in Japanese men. To identify possible associations between the HLA-DRB1*1302-DQB1*0604 allele in the HLA class II region and azoospermia factor (AZF) deletion in the Y chromosome, we performed genomic polymerase chain reaction (PCR) analysis of the AZF region. We then determined spermatogenic impairment (Johnsen score) in testicular biopsy specimens from patients with or without the DRB1*1302-DQB1*0604 haplotype. The AZF microdeletion rate in patients with this haplotype was 3.85%, compared with 11.8% in others (no correlation). However, Johnsen scores in patients with the DRB1*1302-DQB1*0604 haplotype were 3.13 +/- 1.34 (mean +/- SD), compared with 3.70 +/- 1.51 in others (p < 0.05). While the DRB1*1302-DQB1*0604 haplotype acts independently from Y chromosome deletion, the haplotype might either act directly, or be functionally related to an unknown autosomal gene. In either case, this haplotype showed association with severe spermatogenic impairment. FAU - Takao, Tetsuya AU - Takao T AD - Department of Urology, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan. FAU - Tsujimura, Akira AU - Tsujimura A FAU - Sada, Masaharu AU - Sada M FAU - Goto, Rieko AU - Goto R FAU - Koga, Minoru AU - Koga M FAU - Miyagawa, Yasushi AU - Miyagawa Y FAU - Matsumiya, Kiyomi AU - Matsumiya K FAU - Yamada, Kazuhiko AU - Yamada K FAU - Takahara, Shiro AU - Takahara S