Analysis of class II genes of human leukocyte antigen in patients with moyamoya disease.

Moyamoya disease is a progressive steno-occlusive disease at the terminal portion of the bilateral internal carotid arteries. An unusual vascular network is formed as a result of ischemic change of cerebrovascular system. Although some investigations suggested possible etiological factors of Moyamoya disease, the etiology is still unknown. To elucidate the genetic factors of Moyamoya disease, class II genes of human leukocyte antigen (HLA) were analyzed at the DNA level. The DNA typing of HLA was performed in the unrelated Japanese patients with definite Moyamoya disease using extracted genomic DNA from the leukocyte. The genotype was confirmed by polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) technique. The class II genotypes were analyzed in 71 samples. As a result, several alleles of class II genes showed significant association with Moyamoya disease. DQB1*0502 had positive association with the disease. On the other hand DRB1*0405 and DQB1*0401 had negative association. Moyamoya disease seems to have a genetic background in its etiology because certain alleles of HLA are associated with Moyamoya disease.