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A Functional IL22 Polymorphism (rs2227473) Is Associated with Predisposition to Childhood Cerebral Malaria

Sandrine Marquet1, Ianina Conte2, Belco Poudiougou3

  • 1Aix-Marseille University, INSERM, GIMP, Labex ParaFrap, Marseille, France.

Scientific Reports
|February 1, 2017
PubMed

Insights

Genetic variations in Interleukin-22 (IL-22) are linked to cerebral malaria (CM) in African children. Specific IL-22 gene polymorphisms increase the risk and severity of this severe Plasmodium falciparum complication.

Area of Science:

  • Genetics
  • Immunology
  • Infectious Diseases

Background:

  • Cerebral malaria (CM) is a severe Plasmodium falciparum complication characterized by encephalopathy, coma, and potential blood-brain barrier disruption.
  • Interleukin-22 (IL-22) plays a complex role in inflammatory and infectious diseases, with potential protective or pathogenic effects.
  • The genetic contribution of IL-22 and its receptor IL22RA2 to CM susceptibility remains largely unexplored.

Purpose of the Study:

  • To investigate the association between polymorphisms in the IL22 and IL22RA2 genes and the risk of cerebral malaria in children.
  • To identify specific genetic variants that may influence IL-22 production and its role in CM pathogenesis.

Main Methods:

  • A case-control study was conducted in Nigerian children (115 CM cases, 160 controls) and a family-based study in Malian children (240 nuclear families).
  • Genotyping of 46 polymorphisms in IL22 and IL22RA2 was performed.
  • Statistical analyses, including association testing and linkage disequilibrium, were used to evaluate the relationship between SNPs and CM.

Main Results:

  • Two single nucleotide polymorphisms (SNPs) in the IL22 gene, rs1012356 and rs2227476, were significantly associated with CM in Nigerian children.
  • The association of rs2227476 with CM was replicated in the Malian cohort.
  • SNP rs2227473, in linkage disequilibrium with rs2227476, was associated with CM in the combined cohort and correlated with higher IL-22 production, suggesting a role in CM pathogenesis.

Conclusions:

  • Genetic variations in IL22 are associated with cerebral malaria susceptibility in African children.
  • The identified SNPs, particularly rs2227473, may influence IL-22 levels and contribute to the pathogenesis of CM.
  • These findings highlight IL-22 as a potential factor in the immune response to severe malaria.

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