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Int J Mol Epidemiol Genet 2011;2(3):217-227
Review of genetic and environmental factors in variant CJD
Graham A Mackay, Richard SG Knight, James W Ironside
National CJD surveillance unit, Western General hospital, Crewe road, Edinburgh, EH4 2XU, United Kingdom
Received March 11, 2011; accepted May 23, 2011; Epub June 3, 2010; published August 30, 2011
Abstract: The emergence of the novel prion diseases bovine spongiform encephalopathy (BSE) and, subsequently, variant
Creutzfeldt-Jakob disease (vCJD) in epidemic forms has attracted much scientific attention. The oral transmission of these
disorders, the causative relationship of vCJD to BSE and the resistance of the transmissible agents in both disorders to
conventional forms of decontamination has caused great public health concern. The size of the still emerging vCJD epidemic
is thankfully much lower than some early published estimates. This paper reviews current knowledge of the factors that
influence the development of vCJD: The properties of the infectious agent; the route of inoculation and individual susceptibility
factors. The current epidemiological data are reviewed, along with relevant animal transmission studies. In terms of genetic
susceptibility, the best characterised is the common single nucleotide polymorphism at codon 129 of prion protein gene.
Current biomarkers and future areas of research will be discussed. These issues are important in informing precautionary
measures and the ongoing monitoring of vCJD. (IJMEG1103002).
Keywords: Variant CJD, prion disease, BSE, transmission, environmental factors, susceptibility, genetic factors, investigations,
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Address all correspondence to:
Dr Graham Mackay
National CJD surveillance unit
Western General hospital
Crewe road, Edinburgh
EH4 2XU, UK.