Objective: To investigate the association of the FcRL3 gene promoter A/G, exon 2 C/G and exon 4 C/T polymorphisms with Graves disease(GD) in Chongqing Han population.
Methods: One hundred and twenty eight GD patients and 120 control subjects from Chongqing Han population were studied for the polymorphisms by PCR-RFLP and DNA direct sequencing; uTSH, FT3, FT4 and/or TT3, TT4, TRAb, TgAb and TPOAb were measured. Pairwise linkage disequilibrium was calculated and haplotypes were estimated by using the unphased 1122 and LDA1.0 softwares. Statistical differences of genotype,allelic and haplotype frequencies were obtained by Chi-square test between the case group and control group.
Results: There were significant differences in the genotype and allelic frequencies between the two groups (P<0.05). Frequency of haplotype H1(GG) was significantly higher in patients than that in controls among the three major haplotypes (50.8 vs 35.8, P<0.05). Except family history with the promoter SNP (P<0.05), there was no association between clinical manifestations and FCRL3 polymorphisms in the case group.
Conclusion: The results of multi-allele and haplotype analysis indicated that the polymorphisms of the promoter A/G,exon 2 C/G,exon 4 C/T in the FcRL3 gene were possible risk factors to GD in Chongqing Han population.