Relationship between HLA-DRB1 and DQ alleles and the genetic susceptibility to type 1 diabetes.

OBJECTIVE: To study the relationship between human leukocyte antigen (HLA)-DRB1 and DQ alleles and the genetic susceptibility of type 1 diabetes in North Chinese children.

METHODS: Polymerase chain reaction (PCR) techniques were used to amplify the second exon of DRB1 and DQ alleles, after which sequence specific olignucleotide probe (SSOP) dot blot hybridization techniques were used to analyze the amplified products.

RESULTS: DRB1 * 0301, DQA1 * 0301, DQB1 * 0201 alleles and DRB1 * 0301-DQA1 * 0501-DQB1 * 0201 haplotype were significantly increased in patients, while DQA1 * 0103 and DQB1 * 0601 alleles were significantly increased in controls. The distribution of DR4 and DR9 haplotypes in patients and controls were not significantly different, but DR3/DR4 and DR4/DR9 heterozygotes were significantly increased in patients.

CONCLUSIONS: DRB1 * 0301, DQA1 * 0301 and DQB1 * 0201 confer susceptibility while DQA1 * 0103 and DQB1 * 0601 confer protection to type 1 diabetes. DRB1 * 0301-DQA1 * 0501-DQB1 * 0201 haplotype offers a predisposition to type 1 diabetes in North Chinese. Although the distribution of DR4 and DR9 in patients and controls had no significant difference, DR3/DR4 and DR3/DR9 heterozygotes were significantly increased in patients, showing that the susceptive effects of DR3 and DR4 or DR4 and DR9 haplotypes could be added up.