Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined <5 × 10-8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist.

Cordell, H., Han, Y., Mells, G., Li, Y., Hirschfield, G., Greene, C., et al. (2015). International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. NATURE COMMUNICATIONS, 6 [10.1038/ncomms9019].

International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

INVERNIZZI, PIETRO;Bernuzzi, Francesca Veronica;STRAZZABOSCO, MARIO;CARBONE, MARCO;
2015

Abstract

Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined <5 × 10-8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist.
Articolo in rivista - Articolo scientifico
Biochemistry, Genetics and Molecular Biology (all); Chemistry (all); Physics and Astronomy (all)
English
Cordell, H., Han, Y., Mells, G., Li, Y., Hirschfield, G., Greene, C., et al. (2015). International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. NATURE COMMUNICATIONS, 6 [10.1038/ncomms9019].
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