Human leukocyte antigen in patients with moyamoya disease.
OBJECTIVE
Progressive stenosis or occlusion of bilateral internal carotid arteries by fibrocellular intimal thickening results in cerebral ischemia in moyamoya disease. In an attempt to elucidate the still-unknown etiologic factors in moyamoya disease, we assessed human leukocyte antigens in patients with this disease.


METHODS
We investigated 32 unrelated Japanese patients with moyamoya disease for typing of human leukocyte antigen A, B, C, and DR/DQ and compared the results with those from 178 unrelated control subjects.


RESULTS
We found a significant association of human leukocyte antigen B51 with moyamoya disease (corrected P < .05, chi 2 test). Although no significant associations were observed in DR/DQ typing, the frequency of the B51-DR4 combination was significantly higher in moyamoya patients than in control subjects (P < .002, Fisher's exact test).


CONCLUSIONS
These findings suggest that there may be a genetic predisposition for moyamoya disease and that host factors may play a role in the development of intimal thickening in early childhood.
Aoyagi
M
M
Department of Neurosurgery, Tokyo Medical and Dental University, Japan.
Ogami
K
K
Matsushima
Y
Y
Shikata
M
M
Yamamoto
M
M
Yamamoto
K
K
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002545:Brain Ischemia / Q000209:etiology; D002343:Carotid Artery, Internal / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006680:HLA Antigens / Q000097:blood*; D015234:HLA-A Antigens / Q000097:blood; D015235:HLA-B Antigens / Q000097:blood / Q000235:genetics; D059949:HLA-B51 Antigen; D015236:HLA-C Antigens / Q000097:blood; D006683:HLA-DQ Antigens / Q000097:blood; D015804:HLA-DR4 Antigen / Q000097:blood / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009072:Moyamoya Disease / Q000235:genetics / Q000276:immunology*; D017539:Tunica Intima / Q000276:immunology
D006680:HLA Antigens; D015234:HLA-A Antigens; D015235:HLA-B Antigens; D059949:HLA-B51 Antigen; D015236:HLA-C Antigens; D006683:HLA-DQ Antigens; D015804:HLA-DR4 Antigen