Journal article

Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study

Emma Jones, Holger Hummerich, Emmanuelle Vir, James Uphill, Athanasios Dimitriadis, Helen Speedy, Tracy Campbell, Penny Norsworthy, Liam Quinn, Jerome Whitfield, Jacqueline Linehan, Zane Jaunmuktane, Sebastian Brandner, Parmjit Jat, Akin Nihat, Tze How Mok, Parvin Ahmed, Steven Collins, Christiane Stehmann, Shannon Sarros Show all



Background Human prion diseases are rare and usually rapidly fatal neurodegenerative disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in the PRNP gene that encodes prion protein are strong risk factors for sCJD but, although the condition has similar heritability to other neurodegenerative disorders, no other genetic risk loci have been confirmed. We aimed to discover new genetic risk factors for sCJD, and their causal mechanisms. Methods We did a genome-wide association study of sCJD in European ancestry populations (patients diagnosed with probable or definite sCJD identified at national CJD referral centres) with a two-stage study design using genotypin..

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