Archivio istituzionale della ricerca dell'Università degli Studi di Palermo
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EnglishPrimary 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.J., Han Y., Mells G.F., Li Y., Hirschfield G.M., Greene C.S., et al. (2015). International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. NATURE COMMUNICATIONS, 6(1) [10.1038/ncomms9019].
| Data di pubblicazione: | 2015 | |
| Titolo: | International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways | |
| Autori: | ||
| Citazione: | Cordell H.J., Han Y., Mells G.F., Li Y., Hirschfield G.M., Greene C.S., et al. (2015). International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. NATURE COMMUNICATIONS, 6(1) [10.1038/ncomms9019]. | |
| Rivista: | ||
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1038/ncomms9019 | |
| 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. | |
| Appare nelle tipologie: | 1.01 Articolo in rivista |
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| ncomms9019(1).pdf | Versione Editoriale | Open Access Visualizza/Apri |
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