Common genetic factors among autoimmune diseases

Science. 2023 May 5;380(6644):485-490. doi: 10.1126/science.adg2992. Epub 2023 May 4.

Abstract

Autoimmune diseases display a high degree of comorbidity within individuals and families, suggesting shared risk factors. Over the past 15 years, genome-wide association studies have established the polygenic basis of these common conditions and revealed widespread sharing of genetic effects, indicative of a shared immunopathology. Despite ongoing challenges in determining the precise genes and molecular consequences of these risk variants, functional experiments and integration with multimodal genomic data are providing valuable insights into key immune cells and pathways driving these diseases, with potential therapeutic implications. Moreover, genetic studies of ancient populations are shedding light on the contribution of pathogen-driven selection pressures to the increased prevalence of autoimmune disease. This Review summarizes the current understanding of autoimmune disease genetics, including shared effects, mechanisms, and evolutionary origins.

Publication types

  • Review

MeSH terms

  • Autoimmune Diseases* / genetics
  • Genetic Predisposition to Disease
  • Genome
  • Genome-Wide Association Study
  • Humans
  • Risk Factors