We have identified three novel polymorphisms in the promoter/ enhancer region of the tumor necrosis factor (TNF)-alpha gene. In this study we investigated the role of the polymorphisms in predisposition to Type 2 diabetes. The allele frequency of C-->T substitution at -857 tended to be higher in obese patients with diabetes than in lean subjects with normal glucose tolerance (0.280 vs. 0.190). This tendency was due to a significantly higher ratio of -857T homozygotes in the obese patients with diabetes (15%) than in lean subjects with normal glucose tolerance (4%). There was no significant association between polymorphisms at positions -863 or -1,013, and diabetes. The homozygous -857T.allele may be associated with genetic susceptibility to type 2 diabetes in obese subjects.
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Wilson A. G., 1992, Human Molecular Genetics, V1, P353, DOI 10.1093/hmg/1.5.353