Association Between TNF-a Gene Promoter Polymorphisms And Graves’ Disease In Chinese Han Population Of Northern Anhui Region

Objective: To investigate the polymorphism of tumour necrosis factor-α(TNF-α)gene at position—238、—308、—863in Chinese Han population in northern Anhuiregion, and the association of which with Graves’ disease(GD) susceptibility. Then toexplore the genetic background of GD.Method: Study of231cases divided into the GD group of111cases (29males,82females) and healthy control group of120cases (32males,88females),in which GDpatients according to different gender, different thyroid-stimulating hormone receptorantibody(TRAb) levels, with or without thyroid-associated ophthalmopathy(TAO) isdivided into3subgroups. Genomic DNA were extracted from peripheral white bloodcell. The polymorphism of tumor necrosis factor-α(TNF-α)gene at position—238、—308and—863were determined by polymerase chain reaction-restriction fragmentlength polymorphism(PCR-RFLP) method.Apply SPSS13.0statistical analysissoftware to read alleles and genotypes of individual samples, and each group allelefrequencies and genotype compared with chi-square test.Results:⑴TNF-αgene at position—238exists A,G the two alleles and AA、AG、GGthe three genotypes; TNF-αgene at position—308exists A,G the two alleles andAA、AG、GG the three genotypes; TNF-αgene at position—863exists A,C the twoalleles and AA、AC、CC the three genotypes.⑵There were no significant differencesin the allele and genotype frequencies of TNF-αat position—238and—308between GD group and healthy control group(P﹥0.05).But the A allelefrequency(17.1%)of—863locus GD group was significantly higher than the frequency(8.8%) in normal control group（P＜0.05）;the frequency of AA＋CAgenotype(31.5%) of—863locus in GD group was significantly higher than thefrequency(17.5%) in normal control group（P＜0.05）.⑶There were no significantdifferences in the allele and genotype frequencies of TNF-αat position—238、—308、—863between different gender, between group GD with TAO and group GDwithout TAO(P﹥0.05).⑷There were no significant differences in the allele andgenotype frequencies of TNF-αat position—238、—308、—863between differentTRAb levels(TRAb﹥12U/L;≦12U/L) in earlier onset of GD.Conclusion:⑴There are TNF-α gene—238G/A、—308G/A、—863C/Apolymorphisms in Chinese Han population in northern Anhui region.⑵There isassociation between TNF-αgene—863C/A polymorphisms and GD susceptibility inChinese Han population in northern Anhui region.⑶There are no associationbetween TNF-αgene—238G/A、—308G/A polymorphisms and GD susceptibility inChinese Han population in northern Anhui region.⑷There are no associationbetween TNF-αgene—238G/A、—308G/A、—863C/A polymorphisms and male orfemale GD.⑸There are no association between TNF-α gene—238G/A、—308G/A、—863C/A polymorphisms and GD with TAO or without TAO.⑹Thereare no association between TNF-α gene—238G/A、—308G/A、—863C/Apolymorphisms and TRAb level in earlier onset of GD.