Pernicious anemia - genetic insights

Autoimmun Rev. 2011 Jun;10(8):455-9. doi: 10.1016/j.autrev.2011.01.009. Epub 2011 Feb 4.


Pernicious anemia (PA) is a complex, autoimmune, multi-factorial disease. Rapid progress has been made in the understanding of susceptibility to a spectrum of other autoimmune diseases through genome wide association studies (GWAS). However, PA has been conspicuous by its absence from this work. Here, we examine the evidence that PA has a significant heritable component through epidemiological evidence and its co-occurrence with other autoimmune diseases. Further, we consider how knowledge of the genetic susceptibility to other autoimmune diseases may provide insight into the etiology of PA.

Publication types

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

MeSH terms

  • Anemia, Pernicious / epidemiology*
  • Anemia, Pernicious / genetics*
  • Anemia, Pernicious / physiopathology
  • Cobamides / deficiency
  • Comorbidity
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Helicobacter Infections / epidemiology*
  • Helicobacter pylori / immunology*
  • Helicobacter pylori / pathogenicity
  • Humans
  • Intrinsic Factor / genetics
  • Intrinsic Factor / immunology
  • Intrinsic Factor / metabolism*
  • Polymorphism, Genetic


  • Cobamides
  • Intrinsic Factor