title: 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.
authors.affiliation: Department of Ophthalmology, Yokohama City University School of Medicine, Kanazawa-ku, Yokohama, Kanagawa, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Mizuki
authors.forename: M
authors.initials: M
authors.lastname: Ota
authors.forename: Y
authors.initials: Y
authors.lastname: Katsuyama
authors.forename: K
authors.initials: K
authors.lastname: Yabuki
authors.forename: H
authors.initials: H
authors.lastname: Ando
authors.forename: T
authors.initials: T
authors.lastname: Shiina
authors.forename: E
authors.initials: E
authors.lastname: Nomura
authors.forename: K
authors.initials: K
authors.lastname: Onari
authors.forename: S
authors.initials: S
authors.lastname: Ohno
authors.forename: H
authors.initials: H
authors.lastname: Inoko
mesh_terms: D000483:Alleles; D001528:Behcet Syndrome / Q000235:genetics*; D005787:Gene Frequency; D005805:Genes, MHC Class I; D020022:Genetic Predisposition to Disease; D005838:Genotype; D015235:HLA-B Antigens / Q000235:genetics*; D059949:HLA-B51 Antigen; D006650:Histocompatibility Testing; D006801:Humans; D007564:Japan; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D015235:HLA-B Antigens; D059949:HLA-B51 Antigen