Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease.

BMC Medical Genetics
Matthew BishopRichard S G Knight

Abstract

Variant Creutzfeldt-Jakob disease (vCJD) originally resulted from the consumption of foodstuffs contaminated by bovine spongiform encephalopathy (BSE) material, with 163 confirmed cases in the UK to date. Many thousands are likely to have been exposed to dietary infection and so it is important (for surveillance, epidemic modelling, public health and understanding pathogenesis) to identify genetic factors that may affect individual susceptibility to infection. This study looked at a polymorphism in the cathepsin D gene (refSNP ID: rs17571) previously examined in Alzheimer's disease (AD). Blood samples taken from 110 vCJD patients were tested for the C-T base change, and genotype data were compared with published frequencies for a control population using multiple logistic regression. There was a significant excess of the cathepsin D polymorphism TT genotype in the vCJD cohort compared to controls. The TT genotype was found to have a 9.75 fold increase in risk of vCJD compared to the CT genotype and a 10.92 fold increase compared to the CC genotype. This mutation event has been observed to alter the protease activity of the cathepsin D protein and has been linked to an increase in amyloid beta plaque formation in AD. vCJD neurop...Continue Reading

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Citations

Apr 29, 2009·International Journal of Molecular Sciences·Gabor G Kovacs, Herbert Budka
Jul 6, 2010·Acta Neurologica Scandinavica·B-H JeongY-S Kim
Jun 24, 2014·Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases·Stéphane Haïk, Jean-Philippe Brandel
May 23, 2014·Journal of Korean Medical Science·Byung-Hoon Jeong, Yong-Sun Kim
Jul 3, 2009·Alzheimer Disease and Associated Disorders·Gabor G KovacsHerbert Budka
Aug 17, 2011·Prion·Ana Lukic, Simon Mead
Sep 21, 2019·Annual Review of Genetics·Simon MeadJohn Collinge
Apr 30, 2017·Acta Neuropathologica Communications·Franc LlorensInga Zerr

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Methods Mentioned

BETA
genotyping

Software Mentioned

SPSS

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