Journal article
A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk
P Sanchez-Juan, MT Bishop, GG Kovacs, M Calero, YS Aulchenko, A Ladogana, A Boyd, V Lewis, C Ponto, O Calero, A Poleggi, Á Carracedo, SJ Van Der Lee, T Ströbel, F Rivadeneira, A Hofman, S Haïk, O Combarros, J Berciano, AG Uitterlinden Show all
Plos One | PUBLIC LIBRARY SCIENCE | Published : 2015
Abstract
We performed a genome-wide association (GWA) study in 434 sporadic Creutzfeldt-Jakob disease (sCJD) patients and 1939 controls from the United Kingdom, Germany and The Netherlands. The findings were replicated in an independent sample of 1109 sCJD and 2264 controls provided by a multinational consortium. From the initial GWA analysis we selected 23 SNPs for further genotyping in 1109 sCJD cases from seven different countries. Five SNPs were significantly associated with sCJD after correction for multiple testing. Subsequently these five SNPs were genotyped in 2264 controls. The pooled analysis, including 1543 sCJD cases and 4203 controls, yielded two genome wide significant results: rs610751..
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Funding Acknowledgements
Funding: This study was supported by: UK: the National CJD Research and Surveillance UK Unit is funded by the Department of Health and the Scottish Government Health Department. The National CJD Research and Surveillance Unit is funded by the Policy Research Programme in the Department of Health. Germany: This work was supported by a grant from the European Commission (Protecting the food chain from prions: shaping European priorities through basic and applied research (PRIORITY, No 222887) Project number: FP7-KBBE-2007-2A). The study was performed within the recently established Clinical Dementia Center at the University Medical Center Gottingen and was partly supported by grants from the EU Joint Programme - Neurodegenerative Disease Research (JPND - DEMTEST "Biomarker based diagnosis of rapid progressive dementias-optimization of diagnostic protocols", 01ED1201A). This study was funded by the Robert Koch Institute through funds from the Federal Ministry of Health (grant no. 1369-341). Italy: The Italian Registry of CJD and related disorders is funded by the Ministry of Health, National Centre for Disease Prevention and Control, Central Actions. This work was partly supported by grant from the EU Joint Programme Neurodegenerative Disease Research (JPND DEMTEST "Biomarker based diagnosis of rapid progressive dementias-optimization of diagnostic protocols", 01ED1201A). The Netherlands: the generation and management of genome-wide association study (GWAS) genotype data for the Rotterdam Study is supported by the Netherlands Organization of Scientific Research NWO Investments (nr. 175.010.2005.011, 911-03-012). This study is funded by the Research Institute for Diseases in the Elderly (014-93-015; RIDE2), the Netherlands Genomics Initiative (NGI)/Netherlands Organisation for Scientific Research (NWO) project nr. 050-060-810. The Rotterdam Study is funded by Erasmus Medical Center and Erasmus University, Rotterdam, Netherlands Organization for the Health Research and Development (ZonMw), the Research Institute for Diseases in the Elderly (RIDE), the Ministry of Education, Culture and Science, the Ministry for Health, Welfare and Sports, the European Commission (DG XII), and the Municipality of Rotterdam. YSA is supported by Russian Science Foundation (RSCF) grant 14-14-00313. Spain. PSJ was supported by a grant from FIS (PI12/02288) and JPND project DEMTEST (PI11/03028). AC is supported by PI13/01136 Accion Estrategica de Salud del Instituto de Salud Carlos III e INNOPHARMA. Australia: The Australian National Creutzfeldt-Jakob Disease Registry (ANCJDR) is funded by the Commonwealth Department of Health. SJC is supported by a NHMRC Practitioner Fellowship (#APP1005816). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.