Genetic variation that determines TAPBP expression levels associates with the course of malaria in an HLA allotype-dependent manner

Proc Natl Acad Sci U S A. 2022 Jul 19;119(29):e2205498119. doi: 10.1073/pnas.2205498119. Epub 2022 Jul 13.

Abstract

HLA class I (HLA-I) allotypes vary widely in their dependence on tapasin (TAPBP), an integral component of the peptide-loading complex, to present peptides on the cell surface. We identified two single-nucleotide polymorphisms that regulate TAPBP messenger RNA (mRNA) expression in Africans, rs111686073 (G/C) and rs59097151 (A/G), located in an AP-2α transcription factor binding site and a microRNA (miR)-4486 binding site, respectively. rs111686073G and rs59097151A induced significantly higher TAPBP mRNA expression relative to the alternative alleles due to higher affinity for AP-2α and abrogation of miR-4486 binding, respectively. These variants associated with lower Plasmodium falciparum parasite prevalence and lower incidence of clinical malaria specifically among individuals carrying tapasin-dependent HLA-I allotypes, presumably by augmenting peptide loading, whereas tapasin-independent allotypes associated with relative protection, regardless of imputed TAPBP mRNA expression levels. Thus, an attenuated course of malaria may occur through enhanced breadth and/or magnitude of antigen presentation, an important consideration when evaluating vaccine efficacy.

Keywords: HLA; malaria; tapasin.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, N.I.H., Extramural

MeSH terms

  • Binding Sites
  • Genetic Variation
  • Histocompatibility Antigens Class I* / immunology
  • Humans
  • Malaria, Falciparum* / genetics
  • Malaria, Falciparum* / immunology
  • Malaria, Falciparum* / parasitology
  • Membrane Transport Proteins* / genetics
  • Membrane Transport Proteins* / metabolism
  • MicroRNAs / metabolism
  • Peptides / immunology
  • Plasmodium falciparum* / immunology
  • RNA, Messenger / genetics
  • Transcription Factor AP-2 / metabolism

Substances

  • Histocompatibility Antigens Class I
  • MIRN4486 microRNA, human
  • Membrane Transport Proteins
  • MicroRNAs
  • Peptides
  • RNA, Messenger
  • Transcription Factor AP-2
  • tapasin