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Human leukocyte antigen in patients with moyamoya disease
M Aoyagi1, K Ogami, Y Matsushima
1Department of Neurosurgery, Tokyo Medical and Dental University, Japan.
Background And Purpose:
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.