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.