The frequency of an IL-18-associated haplotype in Africans

Eur J Hum Genet. 2013 Apr;21(4):465-8. doi: 10.1038/ejhg.2012.184. Epub 2012 Aug 29.

Abstract

Variation within the gene for the proinflammatory cytokine interleukin (IL)-18 has been associated with inter-individual differences in levels of free protein and disease risk. We investigated the frequency of function-associated IL18 gene haplotypes in an extensive sample (n=2357) of African populations from across the continent. A previously identified five tagging SNP (single-nucleotide polymorphism) haplotype (here designated hGTATA), known to be associated with lower levels of IL-18, was observed at a frequency of 27% in a British population of recent European ancestry, but was found at low frequency (<8%) or completely absent in African populations. Potentially protective variants may, as a consequence, be found at low frequency in African individuals and may confer a difference in disease risk.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Africa
  • Black People / genetics*
  • Gene Frequency*
  • Haplotypes*
  • Humans
  • Interleukin-8 / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • United Kingdom

Substances

  • CXCL8 protein, human
  • Interleukin-8