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CNTN5 is associated with disease risk and pathology throughout the Alzheimer’s disease continuum

Contactins are a family of molecules that are involved in neuronal development. Contactin 5 (CNTN5) is a neuronal membrane protein that contributes to axonal targeting, synaptic formation and plasticity. A GWAS performed in a population isolate from Eastern Canada identified a polymorphism in the CNTN5 gene (rs1461684_G) which is associated with increased risk of developing Alzheimer’s disease (AD). In order to further characterize the role of CNTN5 in AD, we used two cohorts (the “at‐risk” pre‐symptomatic PREVENT‐AD and the symptomatic ROSMAP) to examine the association of CNTN5 genotype and protein levels with pathological hallmarks and clinical manifestations of AD.