PMID- 12366783
OWN - NLM
STAT- MEDLINE
DCOM- 20030725
LR  - 20220408
IS  - 0001-2815 (Print)
IS  - 0001-2815 (Linking)
VI  - 60
IP  - 1
DP  - 2002 Jul
TI  - Susceptibility locus for non-obstructive azoospermia is localized within the 
      HLA-DR/DQ subregion: primary role of DQB1*0604.
PG  - 53-63
AB  - Non-obstructive azoospermia is a male infertility characterized by no or little 
      sperm in semen as a result of a congenital dysfunction in spermatogenesis. 
      Previous studies have reported a higher prevalence of particular human leukocyte 
      antigen (HLA) antigens in non-obstructive azoospermia. As the expression of the 
      RING3 gene located in the HLA class II region was predominant in the testis, 
      mainly around spermatids and pachytene spermatocytes, it is tempting to speculate 
      that RING3 is one of the strong candidate genes responsible for the pathogenesis 
      of the disease. In this study, the genetic polymorphism in the RING3 gene was 
      investigated by the direct sequencing technique. As a result, a total of 14 
      single nucleotide polymorphisms were identified. Among them, six were localized 
      in the coding region but none of them was accompanied by an amino-acid 
      substitution. No significant difference in the allelic distribution at these 14 
      polymorphic sites was observed between the patients and healthy controls, 
      suggesting that the susceptible gene for non-obstructive azoospermia is not the 
      RING3 gene. Then, in order to map the susceptibility locus for non-obstructive 
      azoospermia precisely within the HLA region, 11 polymorphic microsatellite 
      markers distributed from the SACM2L gene just outside the HLA class II region 
      (187 kb telomeric of the DPB1 gene) to the OTF3 gene in the HLA class I region 
      were subjected to association analysis in the patients. Statistical analysis of 
      distribution in the allelic frequency at each microsatellite locus demonstrated 
      that the pathogenic gene for non-obstructive azoospermia is located within the 
      HLA-DR/DQ subregion. In fact, DRB1*1302 and DQB1*0604 were found to be strongly 
      associated with non-obstructive azoospermia by polymerase chain reaction-based 
      DNA typing. Further, haplotype analysis suggested that the DQB1*0604 allele may 
      play a decisive role in the pathogenesis of non-obstructive azoospermia.
FAU - Matsuzaka, Y
AU  - Matsuzaka Y
AD  - Department of Molecular life Science, Tokai University School of Medicine, 
      Ishehara, Kanagwa, Japan.
FAU - Makino, S
AU  - Makino S
FAU - Okamoto, K
AU  - Okamoto K
FAU - Oka, A
AU  - Oka A
FAU - Tsujimura, A
AU  - Tsujimura A
FAU - Matsumiya, K
AU  - Matsumiya K
FAU - Takahara, S
AU  - Takahara S
FAU - Okuyama, A
AU  - Okuyama A
FAU - Sada, M
AU  - Sada M
FAU - Gotoh, R
AU  - Gotoh R
FAU - Nakatani, T
AU  - Nakatani T
FAU - Ota, M
AU  - Ota M
FAU - Katsuyama, Y
AU  - Katsuyama Y
FAU - Tamiya, G
AU  - Tamiya G
FAU - Inoko, H
AU  - Inoko H
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
RN  - 0 (Genetic Markers)
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (Histocompatibility Antigens Class II)
SB  - IM
MH  - Alleles
MH  - Base Sequence
MH  - Chromosome Mapping
MH  - Exons/genetics
MH  - Genetic Markers/genetics
MH  - Genetic Predisposition to Disease/*genetics
MH  - HLA-DQ Antigens/*classification/*genetics/physiology
MH  - HLA-DQ beta-Chains
MH  - HLA-DR Antigens/*classification/*genetics
MH  - Haplotypes/genetics
MH  - Histocompatibility Antigens Class II/*genetics
MH  - Histocompatibility Testing
MH  - Humans
MH  - Japan
MH  - Linkage Disequilibrium/genetics
MH  - Male
MH  - Microsatellite Repeats/genetics
MH  - Molecular Sequence Data
MH  - Oligospermia/*genetics
MH  - Polymorphism, Genetic/genetics
MH  - Sequence Deletion/genetics
MH  - Statistics as Topic
EDAT- 2002/10/09 04:00
MHDA- 2003/07/26 05:00
CRDT- 2002/10/09 04:00
PHST- 2002/10/09 04:00 [pubmed]
PHST- 2003/07/26 05:00 [medline]
PHST- 2002/10/09 04:00 [entrez]
AID - tan600107 [pii]
AID - 10.1034/j.1399-0039.2002.600107.x [doi]
PST - ppublish
SO  - Tissue Antigens. 2002 Jul;60(1):53-63. doi: 10.1034/j.1399-0039.2002.600107.x.