Nature genetics · 2011
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
СтатьяМетаанализПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Mells George F, Floyd James A B, Morley Katherine I, Cordell Heather J, Franklin Christopher S, Shin So-Youn, Heneghan Michael A, Neuberger James M, Donaldson Peter T, Day Darren B, Ducker Samantha J, Muriithi Agnes W, Wheater Elizabeth F, Hammond Christopher J, Dawwas Muhammad F, UK PBC Consortium, Wellcome Trust Case Control Consortium 3, Jones David E, Peltonen Leena, Alexander Graeme J, Sandford Richard N, Anderson Carl A
Аннотация
In addition to the HLA locus, six genetic risk factors for primary biliary cirrhosis (PBC) have been identified in recent genome-wide association studies (GWAS). To identify additional loci, we carried out a GWAS using 1,840 cases from the UK PBC Consortium and 5,163 UK population controls as part of the Wellcome Trust Case Control Consortium 3 (WTCCC3). We followed up 28 loci in an additional UK cohort of 620 PBC cases and 2,514 population controls. We identified 12 new susceptibility loci (at a genome-wide significance level of P < 5 × 10⁻⁸) and replicated all previously associated loci. We identified three further new loci in a meta-analysis of data from our study and previously published GWAS results. New candidate genes include STAT4, DENND1B, CD80, IL7R, CXCR5, TNFRSF1A, CLEC16A and NFKB1. This study has considerably expanded our knowledge of the genetic architecture of PBC.
Предметные рубрики MeSH
Adaptive ImmunityB7-1 AntigenCase-Control StudiesCohort StudiesDatabases, GeneticDeath Domain Receptor Signaling Adaptor ProteinsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGuanine Nucleotide Exchange FactorsHumansImmunity, InnateLectins, C-TypeLinkage DisequilibriumLiver Cirrhosis, BiliaryMaleMonosaccharide Transport ProteinsNF-kappa B p50 SubunitPolymorphism, Single NucleotideReceptors, CXCR5Receptors, Interleukin-7Receptors, Tumor Necrosis Factor, Type IRisk FactorsSTAT4 Transcription Factor