• PMID: 11935327
• Gene Name: HLA-DQB1
• Condition: Non-obstructive azoospermia
• Association: Microsatellite markers in the HLA class II region and at the HLA-DRB1 and -DQB1 loci displayed strong associations with non-obstructive azoospermia.
• Mutation: HLA-DRB1*1302, HLA-A33 and -B44
• Sex: Male
• Infertility type: Male infertility
• Associated genes: HLA-DRB1*1302, HLA-A33, -B44
• Other associated phenotypes: Non-obstructive azoospermia

Susceptibility gene for non-obstructive azoospermia located near HLA-DR and -DQ loci in the HLA class II region

Tsujimura A, Ota M, Katsuyama Y, Sada M, Miura H, Matsumiya K, Gotoh R, Nakatani T, Okuyama A, Takahara S.

The technical developments and expanded indications for testicular sperm extraction (TESE) with intracytoplasmic sperm injection (ICSI) provide great advantages for patients with non-obstructive azoospermia. Such success, however, also means that genetic abnormalities in non-obstructive azoospermia can be transmitted to the next generation, demonstrating the importance of being able to understand the genetic background of non-obstructive azoospermia. We have previously reported that human leukocyte antigens (HLA)-A33 and -B44 in the HLA class I region and the HLA-DRB1*1302 allele in the HLA class II region are linked to susceptibility to non-obstructive azoospermia in Japanese men. However, strong linkage of HLA-DRB1*1302 with HLA-A33 and -B44 is also evident in the Japanese population. Thus, uncertainty prevails as to whether the HLA class I or class II molecule is more directly associated with non-obstructive azoospermia. In the present study, we performed association analysis with 21 polymorphic microsatellite markers identified near the HLA genes to map the gene involved in the development of non-obstructive azoospermia more precisely. Microsatellite markers located in the HLA class I region or the class III region showed no statistically significant association with this disorder, although once again the HLA-A33 and -B44 alleles showed a significant association. In contrast, some of the microsatellite markers in the HLA class II region and at the HLA-DRB1 and -DQB1 loci displayed strong associations with non-obstructive azoospermia. Taken together, our previous and present data suggest that the critical region for development of non-obstructive azoospermia is near the HLA-DRB1 and -DQB1 segments in the HLA class II region. FAU - Tsujimura, Akira AU - Tsujimura A AD - Department of Urology, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan. FAU - Ota, Masao AU - Ota M FAU - Katsuyama, Yoshihiko AU - Katsuyama Y FAU - Sada, Masaharu AU - Sada M FAU - Miura, Hidenobu AU - Miura H FAU - Matsumiya, Kiyomi AU - Matsumiya K FAU - Gotoh, Rieko AU - Gotoh R FAU - Nakatani, Takeshi AU - Nakatani T FAU - Okuyama, Akihiko AU - Okuyama A