TSHR Gene Intron1Area Polymorphism With Graves Disease And The Relationship Between The Clinical Manifestations

Objective:1、Discussed in Anhui, China han population in GD patients and normalcontrol group TSHR gene intron1area on the genotype distribution of SNPs loci；2、Discussion on TSHR gene intron1SNPs rs179247, rs12101261, rs2284722, rs4903964,rs2300525, rs17111394correlations with the onset of GD, and screen out the maineffect susceptibility loci rs121012612；3、 Further explore TSHR gene intron1rs12101261on site and GD patients TRAb levels, Graves’ ophthalmopathy, degree ofgoiter clinical relevance.Methods:1、In2011-2012in Bengbu Medical College in the first affiliated hospital ofbengbu endocrine clinic patients, select the group of699GD patients and563healthycontrols, collected fresh blood, and DNA extraction blood cells,Case group699patientsconsistent with guide of diagnosis and treatment of thyroid disease in China in2008about the diagnostic criteria of GD；2、With TaqMan probe technique, testing699GDpatients and563healthy controls of chromosome14TSHR gene introns genotypingSNPs loci on1area, and the genotype of GD patients and normal controls werecorrelation analysis, the relationship between SNPs and GD susceptibility；3、Focus onanalysis of SNP-rs12101261clinical manifestations of the differences betweendifferent genotype subgroups, analysis the correlation between SNPs and clinicalindicators.Result：1、Six SNPs loci, rs179247, rs2284722, rs12101261, rs4903964four sites in the case-control has significant differences on the frequency distribution, P <0.05, rs2300525rs17111394and GD susceptibility had no significant correlation between related or not,P values were0.650and0.078; 2、Bivariate six SNPs loci logistic regression analysis, the analysis shows: rs12101261and rs4903964two variables have significant improvement of the model, the P valuewere4.470x10-4,0.017， rs12101261P values in the regression analysis4.470x10-4，significantly less than rs4903964P value0.017;3、Rs12101261associated with serum level of TRAb, gender; And degree of goiter,Graves’ ophthalmopathy no obvious related，correlation of P values were0.513,0.108.Consequence：1、TSHR introns1area is the han Chinese region crowd GD an importantsusceptibility genes of the disease. Including rs12101261is the most important of theTSHR gene intron1main effect susceptibility loci. Rs12101261_TT can increase therisk of GD；2、The SNPs loci for TRAb GD patients’ risk of the disease, also enhanced obviously；3、Susceptible genotype rs12101261_TT TRAb in patients with positive rate is high, theTSHR gene may be TRAb continued positive susceptibility genes a main effect of GDin patients with hyperthyroidism. Rs12101261and degree of goiter, Graves’ophthalmopathy has no obvious correlation. But was associated with a significantgender, this may indicate that the han population in bengbu region, genotype differenceis an important reason for the high incidence in GD women.