6533b855fe1ef96bd12b06b8
RESEARCH PRODUCT
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subject
MultidisciplinaryGeneral Physics and AstronomySingle-nucleotide polymorphismGenome-wide association studyGeneral ChemistryBiologymedicine.diseaseBioinformaticsGeneral Biochemistry Genetics and Molecular Biology3. Good healthPrimary biliary cirrhosisMeta-analysisGenotypeImmunologymedicineGenetic predispositionGenotypingGenetic associationdescription
AbstractPrimary 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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2015-09-22 | Nature Communications |