ERAP1 in ankylosing spondylitis: genetics, biology and pathogenetic role

Curr Opin Rheumatol. 2013 Jul;25(4):419-25. doi: 10.1097/BOR.0b013e328362042f.

Abstract

Purpose of review: Endoplasmic reticulum aminopeptidase 1 (ERAP1) is an aminopeptidase of the endoplasmic reticulum involved in trimming of peptides to their optimal size for binding to major histocompatibility complex class I molecules. Natural ERAP1 polymorphism resulting in altered enzymatic activity is associated with ankylosing spondylitis, an inflammatory disorder very strongly linked to HLA-B27.

Recent findings: This review will summarize recent advances in the genetics of ERAP1 association with this disease, in the molecular basis of ERAP1 function and in the mechanism of functional interaction between ERAP1 and HLA-B27.

Summary: The findings suggest that the pathogenetic role of ERAP1 in ankylosing spondylitis is due to allotype-dependent alterations of the HLA-B27 peptidome that affect the immunologic and other features of HLA-B27.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aminopeptidases / chemistry
  • Aminopeptidases / genetics*
  • Aminopeptidases / immunology
  • Genetic Predisposition to Disease
  • HLA-B27 Antigen / genetics
  • Humans
  • Minor Histocompatibility Antigens
  • Polymorphism, Genetic
  • Spondylitis, Ankylosing / genetics*
  • Spondylitis, Ankylosing / immunology
  • Structure-Activity Relationship

Substances

  • HLA-B27 Antigen
  • Minor Histocompatibility Antigens
  • Aminopeptidases
  • ERAP1 protein, human