11 research outputs found
Summary data ankylosing spondylitis GWAS
Summary of association tests for Nature Genetics publication "Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci"
Imputation-based analysis of MICA alleles in the susceptibility to ankylosing spondylitis
Gene Expression Profile in Patients with Axial Spondyloarthritis: Meta-analysis of Publicly Accessible Microarray Datasets
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Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
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 subgroup of cases genetically identical to those with another disease, possibly owing to diagnostic misclassification, molecular subtypes or excessive comorbidity). In particular, the strong comorbidity between primary sclerosing cholangitis and inflammatory bowel disease is likely the result of a unique disease, which is genetically distinct from classical inflammatory bowel disease phenotypes
Genetic predisposition, humans
The translation from genetic knowledge to a molecular understanding of disease is contributing to the development of improved diagnostic and therapeutic products. Here, we briefly cover the localisation of autoimmune disease-associated loci and examine recent progress in molecular understanding of autoimmune disease that has been facilitated by these approaches. We concentrate primarily on progress in the genetics of type 1 diabetes, multiple sclerosis and systemic lupus erythematosus, and draw attention to parallels and contrasts between these diseases, other autoimmune diseases and other immune diseases