Antiphospholipid syndrome's genetic and epigenetic aspects

Autoimmun Rev. 2019 Sep;18(9):102352. doi: 10.1016/j.autrev.2019.102352. Epub 2019 Jul 16.

Abstract

Studies on last genetic and epigenetic predisposition to APS are summarized. It is well known that genetic predisposition is in HLA system (DR4 and DRw53) and that lupus anticoagulant (LA) and anticardiolipin antibodies (aCL) are both associated with the same HLA antigens. Other genes, outside the MHC, give their contribution to the development of this autoimmune syndrome, such as IRF5, STAT4 and those related to inherited thrombophilia - factor V Leiden and G20210A prothrombin polymorphisms. Finally, post-transcriptional modifications of anti-beta2GPI antibodies could be implicated too. The most important discovery of last years is that altered microRNAs' expression is linked to autoimmunity, thrombosis, early atherosclerosis, and oxidative stress in APS.

Keywords: Anti-beta2glycoprotein I antibodies; Anticardiolipin antibodies; Antiphospholipid syndrome; HLA; Lupus anticoagulant; MHC; Thrombofilic hereditary factors; microRNA.

Publication types

  • Review

MeSH terms

  • Activated Protein C Resistance / blood
  • Activated Protein C Resistance / genetics
  • Activated Protein C Resistance / immunology
  • Antibodies, Anticardiolipin / blood
  • Antiphospholipid Syndrome / blood
  • Antiphospholipid Syndrome / genetics*
  • Antiphospholipid Syndrome / immunology
  • Epigenesis, Genetic / physiology*
  • Genetic Predisposition to Disease
  • Genotype
  • HLA Antigens / genetics*
  • Humans
  • Lupus Coagulation Inhibitor / blood
  • Polymorphism, Genetic
  • Thrombosis / complications
  • Thrombosis / genetics
  • Thrombosis / immunology
  • beta 2-Glycoprotein I / immunology

Substances

  • Antibodies, Anticardiolipin
  • HLA Antigens
  • Lupus Coagulation Inhibitor
  • beta 2-Glycoprotein I

Supplementary concepts

  • Thrombophilia due to Activated Protein C Resistance