Association Of TNF-α Gene -308G/A,-863C/A Polymorphism With Thyroid Associated Ophthalmopathy

Objective To investigate the association of tumour necrosis factor-α(TNF-α) gene polymorphisms at position -308G/A,-863C/A in Shanxi region Chinese with thyroid associated ophthalmopathy(TAO) and to explore the genetic background of TAO.Methods TNF-αgene polymorphisms at position -308G/A,-863C/A were determined by polymerase chain reaction-restriction fragment length polymorphism(PCR-PFLP) method in 42 patients with TAO,38 patients with Graves disease(GD) and 50 normal controls. Apply SPSS11.5 statistical analysis software to read alleles and genotypes of individual samples, and each group allele frequencies and genotype compared with chi-square test.Results (1)TNF-αgene at position -308 exists G, A the two alleles and GG,GA,AA the three genotypes; TNF-αgene at position -863 exists C, A the two alleles and CC,CA,AA the three genotypes.(2)The statistic results of genotype and allele frequencies of TNF-αgene at position -308:①There were no significant differences in the allele and genotype frequencies of TNF-αat position -308 between group TAO and normal control group,between group GD and normal control group,between group TAO and group GD(P>0.05).②Stratified by sex, there were no significant differences in the allele and genotype frequencies of TNF-αat position -308(P>0.05).(3)The statistic results of genotype and allele frequencies of TNF-αgene at position -863:①The A allele frequencies in group TAO were significantly higher than those in group GD or the normal control group (P<0.05). There was no statistical difference in A allele frequencies between the group GD and the normal control group (P>0.05).②The CA + AA genotype frequencies in group TAO were significantly higher than the normal control group (P<0.05); compared with group GD ,there was no statistical difference (P>0.05);There was also no statistical significance between group GD and the normal control group (P>0.05).③Stratified by sex, the frequencies of A allele in male TAO patients were higher than those in group GD or the normal control group (P<0.05). The frequencies of CA + AA genotype in male TAO patients compared with group GD or the normal control group, there were no significant differences (P>0.05).The genotype and allele frequencies in the female TAO patients compared with group GD or the normal control group, there were no significant differences(P>0.05). In neither male nor female patients of group GD and normal control group,significant differences of the frequencies of genotype and allele was found(P>0.05).Couclusion(1)There are TNF-αgene -308G/A and -863C/A polymorphisms in Shanxi region chinese.(2)There are no associations of TNF-αat position -308 gene polymorphism with GO susceptibility in Shanxi region Chinese.(3)TNF-αgene -863A allele may contribute to the development of TAO in Shanxi region Chinese,especially to male patients.