Abstract

Objectives Tumor necrosis factor alpha (TNF-α) may play a central role in the development of Graves' disease (GD). The aim of this study was to investigate the association of TNF-α 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-α polymorphisms at positions − 308 (G-308A, rs1800629), − 238 (G-238A, rs361525), and + 419 (G + 419A, rs3093661) were genotyped. Results The distribution of TNF-α − 238 and + 419 allelic frequencies between GD and control individuals was significantly different. Both the G alleles of TNF-α − 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-α gene with GD in Chinese patients.

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