Association of Deoxyribonuclease I Gene Polymorphisms with Graves Disease in the Chinese Han Population

Abstract

Background: This study aimed to investigate the association between the single nucleotide polymorphism (SNP) rs1053874 in the deoxyribonuclease I (DNASE1) gene and Graves’ disease (GD) in the Han Chinese population. Methods: Polymerase chain reaction-restriction fragment length polymorphism analysis and direct sequencing were used to identify the distribution of the SNP rs1053874 in the DNASE1 genes from 284 GD patients and 203 healthy controls, and associations between clinical manifestations of GD and the observed genotype and allele frequencies at the DNASE1 gene were analyzed. Results: In the Han Chinese population, there were significant differences between the GD groups and the controls with respect to genotype and allele frequencies associated with theSNPrs1053874. The risk of GD was greater among carriers of the G allele than non-carriers (OR=0.65, 95% CI: 0.49- 0.86). There were significant differences in genotype and allele frequencies between the GD patients with a history of relapse and the GD patients without history of relapse; furthermore, the G allele of the SNP rs1053874 was associated with relapse in GD patients. Conclusion: This study confirmed that the DNASE1 gene may be a GD susceptibility gene in the in the Southern Chinese Han population. The G allele at the rs1053874 SNP would be a direct genetic risk factor for GD in this population. Furthermore, this allele may be associated with disease relapse.