No primary association between the 308 polymorphism in the tumor necrosis factor alpha promoter region and insulin-dependent diabetes mellitus

Hum Immunol. 1996 Feb;45(2):137-42. doi: 10.1016/0198-8859(95)00166-2.


Whereas TNF-alpha has been implicated in the pathogenesis of IDDM, its possible role as a primary genetic susceptibility factor has not been well investigated. In this study, we analyzed a biallelic polymorphism in the TNF-alpha promotor region in a large collection of IDDM patients and controls ascertained from two ethnic populations (U.S. Caucasians and Chinese in Taiwan). We report that the associations with TNF-alpha are due to linkage disequilibrium between TNF-alpha and the DR3-DQB1*0201 haplotype in both ethnic populations. Our analyses of extended haplotypes for the HLA region further substantiate the conclusion that no primary association exists between IDDM and the TNF-alpha promoter polymorphism.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Diabetes Mellitus, Type 1 / genetics*
  • HLA-DR Antigens / genetics*
  • Haplotypes / immunology
  • Humans
  • Polymorphism, Genetic / immunology*
  • Promoter Regions, Genetic / immunology*
  • Tumor Necrosis Factor-alpha / genetics*


  • HLA-DR Antigens
  • Tumor Necrosis Factor-alpha