Implications of genome-wide association studies in novel therapeutics in primary biliary cirrhosis

Marco Carbone, Ana Lleo, Richard N. Sandford, Pietro Invernizzi

Research output: Contribution to journalArticlepeer-review


Genome-wide association studies (GWAS) have revolutionized the search for genetic influences on complex disorders, such as primary biliary cirrhosis (PBC). Recent GWAS have identified many disease-associated genetic variants. These, overall, highlighted the remarkable contribution of key immunological pathways in PBC that may be involved in the initial mechanisms of loss of tolerance and the subsequent inflammatory response and chronic bile duct damage. Results from GWAS have the potential to be translated in biological knowledge and, hopefully, clinical application. There are a number of immune pathways highlighted in GWAS that may have therapeutic implications in PBC and in other autoimmune diseases, such as the anti-interleukin-12/interleukin-23, nuclear factor-kb, tumor necrosis factor, phosphatidylinositol signaling and hedgehog signaling pathways. Further areas in which GWAS findings are leading to clinical applications either in PBC or in other autoimmune conditions, include disease classification, risk prediction and drug development. In this review we outline the possible next steps that may help accelerate progress from genetic studies to the biological knowledge that would guide the development of predictive, preventive, or therapeutic measures in PBC.

Original languageEnglish
Pages (from-to)945-954
Number of pages10
JournalEuropean Journal of Immunology
Issue number4
Publication statusPublished - 2014


  • Autoimmunity
  • Genetics
  • Liver immunology

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy


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