title: High frequency of aspartic acid at position 57 of HLA-DQ beta-chain in Japanese IDDM patients and nondiabetic subjects.
abstract: The HLA-DQ beta-chain (DQB1) genes of 72 Japanese patients with insulin-dependent diabetes mellitus (IDDM) and 85 control subjects were studied with polymerase chain-reaction (PCR) amplification and allele-specific oligonucleotide hybridization. DQW4 (DQBBlank) and DQw9 (DQB3.3) were increased in IDDM patients compared with the control subjects, and DQB1.2, DQB1.9, and DQw7 (DQB3.1) were decreased. Thirty-five (48.6%) IDDM patients had both alleles carrying an aspartic acid at position 57 of the DQ beta-chain (Asp 57), 35 (48.6%) were Asp 57/non-Asp 57 heterozygous, and 2 (2.8%) had non-Asp 57 alleles only. Of 85 control subjects, the respective values for these three genotypes were 49 (57.6%), 29 (34.1%), and 7 (8.2%), respectively. The high frequency of Asp 57 alleles in both IDDM and control subjects contrasts with data for Whites. Therefore, the Asp 57 hypothesis that the presence of an aspartic acid at position 57 of DQ beta-chain provides protection against developing IDDM is not tenable for Japanese IDDM patients. The DRB1 gene, particularly position 57 of the DR beta-chain, may contribute to IDDM susceptibility in Japanese.
authors.affiliation: Division of Endocrinology and Metabolism, Jichi Medical School, Tochigi-Ken, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Awata
authors.forename: T
authors.initials: T
authors.lastname: Kuzuya
authors.forename: A
authors.initials: A
authors.lastname: Matsuda
authors.forename: Y
authors.initials: Y
authors.lastname: Iwamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Kanazawa
authors.forename: M
authors.initials: M
authors.lastname: Okuyama
authors.forename: T
authors.initials: T
authors.lastname: Juji
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001224:Aspartic Acid / Q000032:analysis*; D001483:Base Sequence; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D005784:Gene Amplification; D005787:Gene Frequency / Q000235:genetics*; D006683:HLA-DQ Antigens / Q000032:analysis* / Q000235:genetics; D059866:HLA-DQ beta-Chains; D006801:Humans; D015151:Immunoblotting; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D009841:Oligonucleotides; D016133:Polymerase Chain Reaction
chemical_list: D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C057615:HLA-DQbeta antigen; D009841:Oligonucleotides; D001224:Aspartic Acid; D004247:DNA