Association Of TNF-α Gene-1031T/C Polymorphism With Thyroid-associated Ophthalmopathy

Objective Thyroid associated ophthalmopathy (TAO) is a commonly autoimmune disease. The etiology of the disease is closely associated with genetic factors. TNF-a accelerates B, T cell proliferation and immunoglobulin synthesis, with a wide range of inducing inflammation and immune regulation function.To investigate the association of tumour necrosis factor-a(TNF-a) gene polymorphisms at position-1031 in Shanxi region with thyroid associated ophthalmopathy(TAO) and to explore the genetic background of TAO.Methods The genotype and allele frequencies of TNF-a gene at position-1031 were measured in 51patients with TAO,56 patients with Graves disease(GD) and 57 normal controls by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method.Results (1)The C allele frequencies and TC+CC genotype in TAO group were significantly higher than those in GD group or the normal control group (P<0.05).(2)In the males,TAO group's C allele frequency and TC+CC type frequencies were higher than GD group's and normal control group's (P<0.05).(3)In the females,C allele frequency of female TAO group was higher than the normal control group (P<0.05).Compared with the GD group, there were no significant difference (P> 0.05). There was a significant difference between TAO group and the GD group and the normal control group about TC+CC by-type frequency (P<0.05)..Couclusion (1) There are TNF-a gene-1031T/C polymorphisms in Shanxi region chinese. (2) There is association of TNF-a at position-1031 gene polymorphism with GO susceptibility in Shanxi region Chinese. (3) TNF-a gene-1031C allele may contribute to the development of male TAO patients in Shanxi region Chinese.