Comparison of HLA-DRB1, HLA-DQB1 and HLA-DPB1 gene polymorphisms and haplotypes in partial Han and Uyghur populations of Xinjiang region

Objective: To investigate the gene polymorphism and haplotype distribution characteristics of human leukocyte antigen (HLA)-DRB1, -DQB1 and -DPB1 in Han and Uyghur populations from the Xinjiang Uyghur Autonomous Region.

Methods: The polymerase chain reaction-sequencing-based typing (PCR-SBT) was applied to analyze the HLA-DRB1, HLA-DQB1 and HLA-DPB1 genotypes in 188 Han and 90 Uyghur individuals. The gene frequencies were calculated by direct counting method, and the haplotype frequencies were obtained by the maximum likelihood method with Arlequin3.5 software.

Results: In the 188 Han individuals, the most common alleles were DRB1*09:01 (12.8%), DQB1*03:01 (20.3%) and DPB1*05:01 (33.5%); the most common haplotypes were DRB1*09:01-DQB1*03:03 (8.8%), DRB1*09:01-DPB1*05:01 (5.0%), DQB1*03:01-DPB1*05:01 (9.6%) and DRB1*09:01-DQB1*03:03-DPB1*05:01 (6.3%). In the 90 Uyghur individuals, the most common alleles were DRB1*07:01 (18.3%), DQB1*03:01 (18.9%) and DPB1*04:01 (30%); the most common haplotypes were DRB1*07: 01-DQB1*02:02 (16.1%), DRB1*07:01-DPB1*04:01 (5.0%), DQB1*03:01-DPB1*04:01 (7.3%) and DRB1*07:01-DQB1*02:02-DPB1*04:01 (7.4%). Alleles DRB1*04:04, DRB1*07: 01, DRB1*08:03, DRB1*12: 02, DRB1*13:01, DRB1*15:01, DQB1*02:02, DQB1*06:01, DPB1*04:01 and DPB1*05:01 were significantly different between the two groups.

Conclusions: Gene polymorphism and haplotype distributions of HLA-DRB1, HLA-DQB1 and HLA-DPB1 present their own characteristics in Xinjiang Han and Uyghur populations.