HLA study of Japanese patients with Crutzfeldt-Jakob disease: Significant association with HLA-DQw3

To demonstrate genetic susceptibility to Creutzfeldt‐Jakob disease (CJD), 10 Japanese patients with pathologically proved CJD and 6 patients with clinically definite CJD were tissue typed for 48 class I and 14 class II human leukocyte antigen (HLA) specificities. The patients were scattered throughout Japan and there were no consanguineous relationships. Among 62 HLA specificities, HLA‐DRw53 and DQw3 were found in all pathologically proved CJD cases. When the frequencies of the HLA antigens in the 16 CJD cases were compared to those of normal Japanese, a highly significant (p < 0.005) increase was found for HLA‐DQw3 in the CJD group. The present findings provide evidence for genetic control of susceptibility to CJD in humans.