title: HLA serological and class II genotyping in sarcoidosis patients in Japan.
abstract: To investigate the HLA alleles that contribute to the genetic susceptibility to sarcoidosis, HLA serological typing was performed in 75 patients with sarcoidosis and 150 controls using the standard complement-dependent microcytotoxicity method. The genomic DNAs of the 75 patients and 130 of the 150 controls were used to analyze HLA-DRB1, -DQA1, -DQB1 and -DPB1 alleles, utilizing the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Serological typing showed that the frequencies of HLA-DR52, -DR5, -DR6 and -DR8 were significantly increased in the patients compared to the controls. In PCR-RFLP genotyping, the frequencies of the DR52-associated DRB1 alleles (DRB1*11, DRB1*14), DRB1*08, DQA1*0501 and DQB1*0301 were significantly increased in the patients compared to the controls. The frequencies of the DRB1*12 alleles were also increased among the patients, but this increase was not significant. The frequencies of DRB1*0101, DQB1*0501, and DPB*0402 were significantly lower in the patients than in the controls. The significant increases in the frequencies of DQA1*0501 and DQB1*0301 could be due to the linkage disequilibrium between the DR52-associated DRB1 alleles and DQA1*0501 and DQB1*0301 alleles among the Japanese. The significantly increased frequency of the DR8 (DRB1*08) haplotype, which lacks the DRB3 gene encoding DR52 antigen, suggested that the DR5 (DRB1*11), DR6 (DRB1*14) and DR8 (DRB1*08) of the DRB1 alleles may determine the susceptibility to sarcoidosis among the Japanese.
authors: Department of Ophthalmology, Yokohama City University School of Medicine, Kanagawa, Japan.
authors: M
authors: M
authors: Ishihara
authors: T
authors: T
authors: Ishida
authors: H
authors: H
authors: Inoko
authors: H
authors: H
authors: Ando
authors: T
authors: T
authors: Naruse
authors: Y
authors: Y
authors: Nose
authors: S
authors: S
authors: Ohno
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D000595:Amino Acid Sequence; D003601:Cytotoxicity Tests, Immunologic; D004247:DNA / Q000032:analysis; D004198:Disease Susceptibility; D005260:Female; D005787:Gene Frequency; D005802:Genes, MHC Class II / Q000235:genetics*; D005838:Genotype; D006680:HLA Antigens / Q000276:immunology*; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006650:Histocompatibility Testing; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012189:Retrospective Studies; D012507:Sarcoidosis / Q000235:genetics / Q000276:immunology
chemical_list: D006680:HLA Antigens; D000949:Histocompatibility Antigens Class II; D004247:DNA