Identification of three new single nucleotide polymorphisms in the human tumor necrosis factor-α gene promoter

A. M. Uglialoro, D. Turbay, Patricia Pesavento, J. C. Delgado, F. E. McKenzie, J. G. Gribben, D. Hartl, E. J. Yunis, A. E. Goldfeld

Research output: Contribution to journalArticlepeer-review

232 Scopus citations


We have identified three new human tumor necrosis factor-α (TNF-α) promoter polymorphisms with single nucleotide (nt) substitutions at -862, -856, and -574 nt relative to the TNF-α transcription start site. The -862 and -856 nt TNF-α promoter polymorphisms occur with high frequency in Caucasian and Cambodian individuals and are each non-randomly associated with three extended HLA haplotypes. This study, in which 61 independent TNF-α promoters were analyzed spanning from -977 to +93 nt relative to the TNF-α mRNA cap site, establishes a new canonical TNF-α promoter sequence. Furthermore, we show that none of the three novel polymorphisms at -862, -856 and -574 nt or polymorphisms previously described at positions -238, -308 and +70 have an effect upon TNF-α gene expression in activated lymphocytes. Thus, these TNF-α promoter polymorphisms likely serve as markers for neighboring genes encoding HLA or other undefined molecules in the MHC that may influence disease susceptibility.

Original languageEnglish (US)
Pages (from-to)359-367
Number of pages9
JournalTissue Antigens
Issue number4
StatePublished - 1998
Externally publishedYes


  • Cambodians
  • Caucasians
  • Disease susceptibility
  • Evolution
  • HLA
  • MHC
  • TNF-α gene regulation
  • TNF-α promoter polymorphisms

ASJC Scopus subject areas

  • Immunology
  • Cell Biology


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