THE ASSOCIATION
BETWEEN HLA-DQA1 GENE POLYMORPHISMS AND GRAVES’ DISEASE OF CHILDREN
Cheng XR, Deng LL
Children’s Hospital, Chongqing University of Medical
Sciences, Chongqing, China
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
polymerase chain reactions with single strand conformation polymorphism
(PCR-SSCP), including 85 children with GD and 59 racially matched
healthy controls in Chongqing Han
nationality children. The results were identified by DNA sequence
typing.
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=7.1, p<0.05, RR=4.27).
And the frequency of b conformation was decreased significantly （8.2% VS 52%, χ2=32.64, p<
0.005, 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 had 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 was significantly associated with HLA-DQA1*0102,
*0302/0501, and *0101/0301. It suggests that the HLA-DQA1*0102and
HLA-DQA1*0302/0501 might be the genetic markers for susceptibility,
HLA-DQA1* 0101/0301might be the genetic markers for protective to GD in
Chongqing Han nationality children.