PMID- 14718045 OWN - NLM STAT- MEDLINE DCOM- 20041019 LR - 20190922 IS - 0105-6263 (Print) IS - 0105-6263 (Linking) VI - 27 IP - 1 DP - 2004 Feb TI - Susceptibility gene for non-obstructive azoospermia in the HLA class II region: correlations with Y chromosome microdeletion and spermatogenesis. PG - 37-41 AB - 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 FAU - Okuyama, Akihiko AU - Okuyama A LA - eng PT - Comparative Study PT - Journal Article PL - England TA - Int J Androl JT - International journal of andrology JID - 8000141 RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DR Antigens) SB - IM MH - *Chromosome Deletion MH - *Chromosomes, Human, Y MH - HLA-DQ Antigens/*genetics MH - HLA-DR Antigens/*genetics MH - Haplotypes MH - Humans MH - Japan MH - Male MH - Oligospermia/*genetics MH - Polymerase Chain Reaction MH - Spermatogenesis/*genetics EDAT- 2004/01/14 05:00 MHDA- 2004/10/20 09:00 CRDT- 2004/01/14 05:00 PHST- 2004/01/14 05:00 [pubmed] PHST- 2004/10/20 09:00 [medline] PHST- 2004/01/14 05:00 [entrez] AID - 445 [pii] AID - 10.1046/j.0105-6263.2003.00445.x [doi] PST - ppublish SO - Int J Androl. 2004 Feb;27(1):37-41. doi: 10.1046/j.0105-6263.2003.00445.x.