IFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria

J Infect Dis. 2002 Jun 1;185(11):1684-7. doi: 10.1086/340516. Epub 2002 May 17.

Abstract

Interferon (IFN)-gamma is a critical mediator of immunity to malaria. This study explored the relationship between polymorphisms in the promoter region of the gene encoding IFN-gamma receptor 1 (IFNGR1) and susceptibility to malaria in African children. Four polymorphisms were found in the region between -1400 and +100 nt of the translational start site by sequencing, and analysis of 562 nuclear families revealed 6 haplotypes. Case-control analysis of 562 Gambian children with severe malaria and 569 umbilical cord blood samples (controls) showed that in Mandinka, the major Gambian ethnic group, heterozygotes for the IFNGR1-56 polymorphism were protected against cerebral malaria (odds ratio, 0.54; P=.016) and against death resulting from cerebral malaria (odds ratio, 0.22; P=.006). Analysis of a family study by transmission disequilibrium testing revealed a similar result. Further data are needed to validate this finding, but these results are reminiscent of those for other well-established heterozygote advantages, such as that associated with hemoglobin S.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Family
  • Female
  • Gambia
  • Gene Expression Regulation
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Interferon gamma Receptor
  • Malaria, Cerebral / genetics*
  • Male
  • Mutation
  • Polymorphism, Genetic / genetics*
  • Promoter Regions, Genetic / genetics*
  • Receptors, Interferon / genetics*
  • Receptors, Interferon / metabolism
  • Sequence Analysis, DNA

Substances

  • Receptors, Interferon