Influence of ERAP1 and ERAP2 gene polymorphisms on disease susceptibility in different populations

Hum Immunol. 2019 May;80(5):325-334. doi: 10.1016/j.humimm.2019.02.011. Epub 2019 Feb 21.

Abstract

The endoplasmic reticulum aminopeptidases (ERAPs), ERAP1 and ERAP2, makes a role in shaping the HLA class I peptidome by trimming peptides to the optimal size in MHC-class I-mediated antigen presentation and educating the immune system to differentiate between self-derived and foreign antigens. Association studies have shown that genetic variations in ERAP1 and ERAP2 genes increase susceptibility to autoimmune diseases, infectious diseases, and cancers. Both ERAP1 and ERAP2 genes exhibit diverse polymorphisms in different populations, which may influence their susceptibly to the aforementioned diseases. In this article, we review the distribution of ERAP1 and ERAP2 gene polymorphisms in various populations; discuss the risk or protective influence of these gene polymorphisms in autoimmune diseases, infectious diseases, and cancers; and highlight how ERAP genetic variations can influence disease associations.

Keywords: Disease association; ERAP1; ERAP2; Polymorphism; Population genetic background.

Publication types

  • Review

MeSH terms

  • Aminopeptidases / chemistry
  • Aminopeptidases / genetics*
  • Aminopeptidases / metabolism
  • Antigen Presentation / immunology
  • Autoimmune Diseases / etiology
  • Autoimmune Diseases / metabolism
  • Evolution, Molecular
  • Genetic Predisposition to Disease*
  • Genetics, Population
  • Genotype
  • Histocompatibility Antigens Class I / immunology
  • Humans
  • Minor Histocompatibility Antigens / chemistry
  • Minor Histocompatibility Antigens / genetics*
  • Minor Histocompatibility Antigens / metabolism
  • Polymorphism, Single Nucleotide*
  • Racial Groups / genetics
  • Structure-Activity Relationship

Substances

  • Histocompatibility Antigens Class I
  • Minor Histocompatibility Antigens
  • Aminopeptidases
  • ERAP1 protein, human
  • ERAP2 protein, human