ABSTRACT
OBJECTIVES: Tumor necrosis factor alpha (TNF-alpha) may play a central role in the development of Graves' disease (GD). The aim of this study was to investigate the association of TNF-alpha polymorphisms with GD in Chinese population. DESIGN AND METHODS: Genomic DNA was extracted from peripheral blood lymphocyte of 436 GD patients and 316 control subjects. TNF-alpha polymorphisms at positions -308 (G-308A, rs1800629), -238 (G-238A, rs361525), and +419 (G+419A, rs3093661) were genotyped. RESULTS: The distribution of TNF-alpha -238 and +419 allelic frequencies between GD and control individuals was significantly different. Both the G alleles of TNF-alpha -238 (OR 2.385, 95%CI 1.359-4.184) and +419 (OR 2.293, 95%CI 1.303-4.035) SNPs conferred higher risk of GD as compared with A alleles. No significant difference of -308 allelic frequency was observed. Further haplotype analysis revealed that the haplotype GGG was associated with an increased risk of GD (OR 1.554, 95%CI 1.125-2.146), whereas the haplotype GAA was found to be protective (OR 0.419, 95%CI 0.239-0.736). CONCLUSIONS: This study demonstrated the association of TNF-alpha gene with GD in Chinese patients.
