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Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.


ABSTRACT: We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate pleiotropy and the relationship between these clinically related diseases. Using high-density genotype data from more than 86,000 individuals of European ancestry, we identified 244 independent multidisease signals, including 27 new genome-wide significant susceptibility loci and 3 unreported shared risk loci. Complex pleiotropy was supported when contrasting multidisease signals with expression data sets from human, rat and mouse together with epigenetic and expressed enhancer profiles. The comorbidities among the five immune diseases were best explained by biological pleiotropy rather than heterogeneity (a subgrou

SUBMITTER: Ellinghaus D 

PROVIDER: S-EPMC4848113 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature

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