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 (n¼2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n¼3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombinedo5"10#8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist.
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways
Cusi D;
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 (n¼2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n¼3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombinedo5"10#8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist.File in questo prodotto:
Non ci sono file associati a questo prodotto.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
