University of Cambridge > > Cambridge Cardiovascular Seminar Series > Redefining the Churg-Strauss syndrome through genetics

Redefining the Churg-Strauss syndrome through genetics

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Eosinophilic granulomatosis with polyangiitis (EGPA: formerly Churg-Strauss syndrome) is a rare but potentially life-threatening inflammatory disease, characterised by adult-onset asthma, eosinophilia, and inflammation of blood vessels (vasculitis). Around 40% of patients have auto-antibodies to the enzyme myeloperoxidase (MPO). Here we report findings from the first genome-wide association study (GWAS) of EGPA , performed through the European Vasculitis Genetics Consortium. We identified 11 genetic loci associated with susceptibility to EGPA . Many of these were also risk loci for asthma or other eosinophilic or immune-mediated diseases and, strikingly, nine were associated with blood eosinophil count in the general population. One genetic association (HLA-DQ) was specific to patients with anti-MPO autoantibodies, and two were specific to the antibody-negative subgroup. The presence of autoantibodies correlated with distinct clinical features. This GWAS demonstrates that a primary tendency to eosinophilia may underlie susceptibility to EGPA , and shows that EGPA comprises two genetically and clinically distinct syndromes. Five of the candidate genes identified in this study are linked to pathways which are targets of therapies in development for other conditions, supporting their further exploration in EGPA

This talk will be chaired by Dr Dirk Paul, University Lecturer, Department of Public Health and Primary Care

This talk is part of the Cambridge Cardiovascular Seminar Series series.

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