HLA‐B*51 allele analysis by the PCR‐SBT method and a strong association of HLA‐B*5101 with Japanese patients with Behçet’s disease

Abstract: Behçet’s disease (BD) is known to be associated with human leukocyte antigen (HLA) B51 in many different ethnic groups. An increased incidence of HLA‐B51 in the patient group has also been reported in a Japanese population. Recently, the B51 antigen has been identified to comprise 21 alleles, B*5101–B*5121. Further, not only HLA‐B*5101 but also HLA‐B*5108 were found to be relatively increased in the patient groups among Italian and Saudi Arabian populations. Therefore, we performed HLA‐B*51 allele genotyping by the polymerase chain reaction‐sequencing based typing (PCR‐SBT) method in order to investigate whether there is any correlation of one particular B51‐associated allele with Japanese BD. Ninety‐six Japanese patients with BD and 132 healthy Japanese volunteers were enrolled in this study. As a result, the phenotype frequency of the B51 antigen was confirmed to be remarkably increased in the patient group as compared to the ethnically matched control group (59.4% in patients vs. 13.6% in controls; Pc=0.0000000000098, R.R.=9.3). In the B*51 allele genotyping, 56 out of 57 B51‐positive patients were defined as B*5101 and the remaining one was B*5102. In contrast, all of 18 B51‐positive normal controls were B*5101. None of the Japanese patients and healthy controls carried the HLA‐B*5108 allele. This study revealed that B*51 allelic distribution in Japanese was different from those in Italian and Saudi Arabian populations, and that the significantly high incidence of the HLA‐B51 antigen in the Japanese BD patient group was mostly caused by the significant increase of the HLA‐B*5101 allele.