TNF-alpha promoter single nucleotide polymorphisms are markers of human ancestry

Genes Immun. 2002 Dec;3(8):482-7. doi: 10.1038/sj.gene.6363898.

Abstract

We present a map of single nucleotide polymorphisms (SNPs) in the human tumor necrosis factor (TNF)-alpha promoter based upon exploratory sequencing of 333 human TNF-alpha gene promoters from individuals of distinct ancestral backgrounds. We detect 10 TNF-alpha promoter SNPs that occur with distinct frequencies in populations of different ancestry. Consistent with these findings, we show that two TNF-alpha SNPs, the -243 SNP and the -856 SNP, are the first SNP markers of a sub-Saharan African-derived extended haplotype and an Amerindian HLA haplotype, respectively. Comparisons of TNF-alpha promoter SNP allele frequencies can thus help elucidate variation of HLA haplotypes and their distribution among existing ethnic groups and shed light into the history of human populations.

Publication types

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

MeSH terms

  • Evolution, Molecular*
  • Genetic Markers / genetics
  • Haplotypes / genetics
  • Humans
  • Polymorphism, Single Nucleotide / genetics*
  • Promoter Regions, Genetic / genetics*
  • Tumor Necrosis Factor-alpha / genetics*

Substances

  • Genetic Markers
  • Tumor Necrosis Factor-alpha