Abstract
A polymorphism at codon 129 of the prion protein gene has been shown to confer genetic susceptibility to prion diseases, and to influence the epidemic course of variant Creutzfeldt--Jakob disease. We employed a PCR-endonuclease digestion-based assay to investigate this genetic trait in Brazil, and then compared our results to previously published data from several European and Asian countries.
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Abbreviations
- Met:
-
methinone
- Val:
-
valine
- PRNP:
-
prion protein gene
- vCJD:
-
variant Creutzfeldt--Jakob disease
References
EA Croes CM Duijn Particlevan (2003) ArticleTitleVariant Creutzfeldt--Jakob disease Eur J Epidemiol 18 473–477 Occurrence Handle10.1023/A:1024683119263 Occurrence Handle12908711
CA Llewelyn PE Hewitt RS Knight et al. (2004) ArticleTitlePossible transmission of variant Creutzfeldt-Jakob disease by blood transfusion Lancet 363 417–421 Occurrence Handle10.1016/S0140-6736(04)15486-X Occurrence Handle14962520
SM Bird (2004) ArticleTitleRecipients of blood or blood products “at vCJD risk” BMJ 328 118–119 Occurrence Handle10.1136/bmj.328.7432.118 Occurrence Handle14726314
J Collinge MS Palmer AJ Dryden (1991) ArticleTitleGenetic predisposition to iatrogenic Creutzfeldt--Jakob disease Lancet 337 1441–1442 Occurrence Handle10.1016/0140-6736(91)93128-V Occurrence Handle1675319
HS Lee P Brown L Cervenakova et al. (2001) ArticleTitleIncreased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotype J Infect Dis. 183 192–196 Occurrence Handle10.1086/317935 Occurrence Handle11120925
AC Ghani CA Donnelly NM Ferguson et al. (2003) ArticleTitleUpdated projections of future vCJD deaths in the UK BMC Infect Dis 3 4 Occurrence Handle10.1186/1471-2334-3-4 Occurrence Handle12716457
JW Ironside MW Head (2003) ArticleTitleVariant Creutzfeldt--Jakob disease and its transmission by blood J Thromb Haemost 1 1479–1486 Occurrence Handle10.1046/j.1538-7836.2003.00268.x Occurrence Handle12871283
K Doh-ura T Kitamoto Y Sakaki et al. (1991) ArticleTitleCJD discrepancy Nature 353 801–802 Occurrence Handle10.1038/353801b0 Occurrence Handle1682813
MT Tsai YC Su YH Chen et al. (2001) ArticleTitleLack of evidence to support the association of the human prion gene with schizophrenia Mol Psychiatry 6 74–78 Occurrence Handle10.1038/sj.mp.4000790 Occurrence Handle11244488
N Erginel-Unaltuna K Peoc’h E Komurcu et al. (2001) ArticleTitleDistribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt--Jakob disease Eur J Hum Genet 9 965–968 Occurrence Handle10.1038/sj.ejhg.5200754 Occurrence Handle11840201
A Plaitakis AK Viskadouraki M Tzagournissakis et al. (2001) ArticleTitleIncreased incidence of sporadic Creutzfeldt--Jakob disease on the island of Crete associated with a high rate of PRNP 129-methionine homozygosity in the local population Ann Neurol 50 227–233 Occurrence Handle11506406
MH Nurmi M Bishop L Strain et al. (2003) ArticleTitleThe normal population distribution of PRNP codon 129 polymorphism Acta Neurol Scand 108 374–378 Occurrence Handle10.1034/j.1600-0404.2003.00199.x Occurrence Handle14616310
J Bratosiewicz R Kordek J Kulczycki et al. (1999) ArticleTitleMolecular analysis of PRNP gene in Polish population and in Creutzfeldt--Jakob disease Folia Neuropathol 37 277–280 Occurrence Handle10705652
K Zimmermann PL Turecek HP Schwarz (1999) ArticleTitleGenotyping of the prion protein gene at codon 129 Acta Neuropathol (Berl) 97 355–358 Occurrence Handle10.1007/s004010050998
M Salvatore M Genuardi R Petraroli et al. (1994) ArticleTitlePolymorphisms of the prion protein gene in Italian patients with Creutzfeldt--Jakob disease Hum Genet 94 375–379 Occurrence Handle10.1007/BF00201596 Occurrence Handle7927332
JL Laplanche N Delasnerie-Laupretre JP Brandel et al. (1994) ArticleTitleMolecular genetics of prion diseases in France. French Research Group on Epidemiology of Human Spongiform Encephalopathies Neurology 44 2347–2351 Occurrence Handle7991124
JP Deslys D Marce D Dormont (1994) ArticleTitleSimilar genetic susceptibility in iatrogenic and sporadic Creutzfeldt--Jakob disease J Gen Virol 75 IssueIDPt 1 23–27 Occurrence Handle8113733
O Combarros M Sanchez-Guerra J Llorca et al. (2000) ArticleTitlePolymorphism at codon 129 of the prion protein gene is not associated with sporadic AD Neurology 55 593–595 Occurrence Handle10953203
A Alperovitch I Zerr M Pocchiari et al. (1999) ArticleTitleCodon 129 prion protein genotype and sporadic Creutzfeldt--Jakob disease Lancet 353 1673–1674 Occurrence Handle10335789
P Brown L Cervenakova LG Goldfarb et al. (1994) ArticleTitleIatrogenic Creutzfeldt--Jakob disease: an example of the interplay between ancient genes and modern medicine Neurology 44 291–293 Occurrence Handle8309577
Instituto Brasileiro de Geografia e Estatística I. Brasil. 500 Anos de Povoamento. Rio de Janeiro: IBGE; 2000
DG Altman (1991) Practical Statistics for Medical Research Chapman & Hall London
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Financial Support: Fundacao de Amparo a Pesquisa do Estado de São Paulo -- FAPESP
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de Paula, E.V., Addas-Carvalho, M., Costa, D.S.P. et al. Genotype frequencies at codon 129 of the Prion Protein Gene in Brazil: implications in susceptibility to variant Creutzfeldt--Jakob disease compared to European and Asian populations. Eur J Epidemiol 20, 593–595 (2005). https://doi.org/10.1007/s10654-005-7455-5
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DOI: https://doi.org/10.1007/s10654-005-7455-5