The relationship between thyroid stimulating hormone receptor gene intron 1 area polymorphism and Graves disease and its clinical manifestations in Han Chinese

Objective: To explore the relationship between the loci of thyroid stimulating hormone receptor(TSHR) gene intron 1 single nucleotide polymorphisms(SNPs) and Graves disease(GD) and its clinical manifestations in Han Chinese.Methods: Six hundred and ninety-nine Han Chinese GD patients and 563 health people were selected.The six SNPs site genotypes of TSHR gene intron 1 area on chromosome 14 in all cases were detected using Taqman probe techique,the correlation of which with GD susceptibility was analyzed.Results: The differences of the frequency distributions of rs179247,rs2284722,rs12101261 and rs4903964 sites between GD patients and healthy people were satistically significant(P<0.05).The rs12101261 was the strongest susceptibility loci in the correlation with GD.The rs12101261 was correlation with the serum level of TRAb and gender,and not significant correlation wih the degree of goiter and eye.Conclusions: The TSHR gene intron 1 SNPs is significantly associated with GD.The rs12101261 is the strongest susceptibility loci,which is closely related to the onset of GD in positive thyrotropin receptor antibody patients.