Hla-dqa1 Gene Polymorphism With The Chongqing Area Of ​​children With Graves' Disease Research

Objective: Graves' disease (GD) is an organ-specific autoimmune disease. It has been widely accepted that immunegenetic factors are involved in the pathogenesis of GD. Inherited susceptibility has showed the association with human leukocyte antigen (HLA) class II (D) region. By analyzing the genotypes frequency distribution of HLA-DQA1 loci to seek for susceptible and protective allele of GD and to evaluate the association of HLA-DQA1 gene polymorphism with GD pathogenesis in Chongqing Han nationality children. Methods Genotypes of HLA-DQA1 were detected by silver-staining polymerase chain reactions with single strand conformation polymorphism (PCR-SSCP), including 85 children with GD [14 boys and 71 grils, mean age (8.84±2.51)]。and 50 racially matched healthy controls in Han nationality children of Chongqing. The results were identified by DNA sequencing analysis. Results 7 kinds of HLA-DQA1 conformations have been found in 85 GD and 50 healthy controls, respectively marked with a b c d e f g .Compared with control group, the frequencies of d and f conformation were increased significantly (43.5% VS 8% , x2=18.79, p<0.005, RR=8.86; 27% VS 8% , x2=6.8, p<0.009, RR=4.27). and the frequency of b conformation was decreased significantly(8.2% VS 52% , χ2=29.43, p< 0.001, RR=0.08)in GD group. DNA sequence analysis showed: d conformation is HLA-DQA1*0102, f conformation is HLA-DQA1*0302/0501, b conformation is HLA-DQA1* 0101/0301. conclusion NO novel HLA-DQA1 allele have been found in this study. The polymorphisms of HLA-DQA1 loci in Chongqing Han nationality children are different with that of Caucasian , American Black , Japanese and Hongkong Chinese. It shows that different race and area have different alleles. GD is significantly associated with HLA-DQA1*0102 HLA-DQA1*0302/0501 and HLA-DQA1* 0101/0301. It suggests that the HLA-DQA1*0102and HLA-DQA1*0302/0501 might be the genetic markers of susceptibility , HLA-DQA1*0101/0301 might be the genetic markers of protection for GD in Chongqing Han nationality children.