HUMAN-LEUKOCYTE ANTIGEN IN PATIENTS WITH MOYAMOYA DISEASE

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 t he still-unknown etiologic factors in moyamoya disease, we assessed hu man leukocyte antigens in patients with this disease. Methods We inves tigated 32 unrelated Japanese patients with moyamoya disease for typin g of human leukocyte antigen A, B, C, and DR/DQ and compared the resul ts with those from 178 unrelated control subjects. Results We found a significant association of human leukocyte antigen B51 with moyamoya d isease (corrected P<.05, chi(2) test). Although no significant associa tions were observed in DR/DQ typing, the frequency of the B51-DR4 comb ination was significantly higher in moyamoya patients than in control subjects (P<.002, Fisher's exact test). Conclusions These findings sug gest that there may be a genetic predisposition for moyamoya disease a nd that host factors may play a role in the development of intimal thi ckening in early childhood.