A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Sanchez Juan, Pascual ^a   Bishop, Matthew T ^b   Croes, Esther A ^c   Knight, Richard S G ^b   Will, Robert G ^b   van Duijn, Cornelia M ^d   Manson, Jean C ^e  

^a HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c NETHERLANDS INSTITUTE OF MENTAL HEALTH AND ADDICTION   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Creutzfeldt Jakob diseaseprion protein gene; Early onset; Molecular subtype; Regulatory region

Indexed keywords

METHIONINE; PRION PROTEIN; PRNP PROTEIN, HUMAN;

AGED; ALLELE; ARTICLE; CONTROLLED STUDY; FEMALE; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; RISK FACTOR; SPORADIC CREUTZFELDT JAKOB DISEASE; UNITED KINGDOM; CASE CONTROL STUDY; CREUTZFELDT JAKOB DISEASE; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; PRION; PROMOTER REGION;

AGED; CASE-CONTROL STUDIES; CREUTZFELDT-JAKOB SYNDROME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GREAT BRITAIN; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; PRIONS; PROMOTER REGIONS, GENETIC;

EID: 79956223471     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-73     Document Type: Article

References (22)

1. Alperovitch A, Zerr I, Pocchiari M, Mitrova E, de Pedro Cuesta J, Hegyi I, Collins S, Kretzschmar H, van Duijn C, Will RG. Codon 129 prion protein genotype and sporadic Creutzfeldt-Jakob disease. Lancet 1999, 353:1673-1674. 10.1016/S0140-6736(99)01342-2, 10335789.
2. Sánchez-Juan P, Green A, Ladogana A, Cuadrado-Corrales N, Sánchez-Valle R, Mitrová E, Stoeck K, Sklaviadis T, Kulczycki J, Heinemann U, Hess K, Slivarichová D, Saiz A, Calero M, Mellina V, Knight R, van Duijn CM, Zerr I. CSF tests in the differential diagnosis of Creutzfeldt-Jakob disease. Neurology 2006, 67:637-43. 10.1212/01.wnl.0000230159.67128.00, 16924018.
3. Sanchez-Juan P, Sánchez-Valle R, Green A, Ladogana A, Cuadrado-Corrales N, Mitrová E, Stoeck K, Sklaviadis T, Kulczycki J, Hess K, Krasnianski A, Equestre M, Slivarichová D, Saiz A, Calero M, Pocchiari M, Knight R, van Duijn CM, Zerr I. Influence of timing on CSF tests value for Creutzfeldt-Jakob disease diagnosis. J Neurol 2007, 254:901-6. 10.1007/s00415-006-0472-9, 2779401, 17385081.
4. Collins SJ, Sanchez-Juan P, Masters CL, Klug GM, van Duijn C, Poleggi A, Pocchiari M, Almonti S, Cuadrado-Corrales N, de Pedro-Cuesta J, Budka H, Gelpi E, Glatzel M, Tolnay M, Hewer E, Zerr I, Heinemann U, Kretszchmar HA, Jansen GH, Olsen E, Mitrova E, Alpérovitch A, Brandel JP, Mackenzie J, Murray K, Will RG. Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease. Brain 2006, 129:2278-87. 10.1093/brain/awl159, 16816392.
5. Meissner B, Kallenberg K, Sanchez-Juan P, Collie DA, Summers DM, Almonti S, Collins SJ, Smith P, Cras P, Jansen GH, Brandel JP, Coulthart MB, Roberts H, Van Everbroeck B, Galanaud D, Mellina V, Will RG, Zerr I. MRI lesion profiles in sporadic Creutzfeldt-Jakob disease. Neurology 2009, 72:1994-2001. 10.1212/WNL.0b013e3181a96e5d, 19506221.
6. Parchi P, Giese A, Capellari S, Brown P, Schulz-Schaeffer W, Windl O, Zerr I, Budka H, Kopp N, Piccardo P, Poser S, Rojiani A, Streichemberger N, Julien J, Vital C, Ghetti B, Gambetti P, Kretzschmar H. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 1999, 46:224-233. 10.1002/1531-8249(199908)46:2<224::AID-ANA12>3.0.CO;2-W, 10443888.
7. Goldfarb LG, Petersen RB, Tabaton M, Brown P, LeBlanc AC, Montagna P, Cortelli P, Julien J, Vital C, Pendelbury WW, et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 1992, 258:806-808. 10.1126/science.1439789, 1439789.
8. Ward HJ HM, Will RG, Ironside JW. Variant Creutzfeldt-Jakob disease. Clin Lab Med 2003, 23:87-108. 10.1016/S0272-2712(02)00068-9, 12733426.
9. Mead S, Poulter M, Uphill J, Beck J, Whitfield J, Webb TE, Campbell T, Adamson G, Deriziotis P, Tabrizi SJ, Hummerich H, Verzilli C, Alpers MP, Whittaker JC, Collinge J. Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. Lancet Neurol 2009, 8:57-66. 10.1016/S1474-4422(08)70265-5, 2643048, 19081515.
10. Westaway D, Mirenda CA, Foster D, Zebarjadian Y, Scott M, Torchia M, Yang SL, Serban H, DeArmond SJ, Ebeling C, et al. Paradoxical shortening of scrapie incubation times by expression of prion protein transgenes derived from long incubation period mice. Neuron 1991, 7:59-68. 10.1016/0896-6273(91)90074-A, 1676894.
11. Manson JC, Clarke AR, McBride PA, McConnell I, Hope J. PrP gene dosage determines the timing but not the final intensity or distribution of lesions in scrapie pathology. Neurodegeneration 1994, 3:331-340.
12. Sander P, Hamann H, Drögemüller C, Kashkevich K, Schiebel K, Leeb T. Bovine prion protein gene (PRNP) promoter polymorphisms modulate PRNP expression and may be responsible for differences in bovine spongiform encephalopathysusceptibility. J Biol Chem 2005, 280:37408-14. 10.1074/jbc.M506361200, 16141216.
13. Haase B, Doherr MG, Seuberlich T, Drögemüller C, Dolf G, Nicken P, Schiebel K, Ziegler U, Groschup MH, Zurbriggen A, Leeb T. PRNP promoter polymorphisms are associated with BSE susceptibility in Swiss and German cattle. BMC Genet 2007, 8:15. 1857697, 17437640.
14. McCormack JE, Baybutt HN, Everington D, Will RG, Ironside JW, Manson JC. PRNP contains both intronic and upstream regulatory regions that may influence susceptibility to Creutzfeldt-Jakob Disease. Gene 2002, 288:139-146. 10.1016/S0378-1119(02)00466-3, 12034503.
15. Bratosiewicz-Wasik J, Liberski PP, Golanska E, Jansen GH, Wasik TJ. Regulatory sequences of the PRNP gene influence susceptibility to sporadic Creutzfeldt-Jakob disease. Neurosci Lett 2007, 411:163-7. 10.1016/j.neulet.2006.08.001, 17134829.
16. Cousens SN, Zeidler M, Esmonde TF, De Silva R, Wilesmith JW, Smith PG, Will RG. Sporadic Creutzfeldt-Jakob disease in the United Kingdom: analysis of epidemiological surveillance data for 1970-96. Bmj 1997, 315:389-395. 2127296, 9277601.
17. WHO Human transmissible spongiform encephalopathies. Weekly Epidemiological record 1998, 47:361-365. WHO.
18. Steinhoff BJ, Zerr I, Glatting M, Schulz-Schaeffer W, Poser S, Kretzschmar HA. Diagnostic value of periodic complexes in Creutzfeldt-Jakob disease. Ann Neurol 2004, 56:702-708. 10.1002/ana.20261, 15449324.
19. Zerr I, Bodemer M, Gefeller O, Otto M, Poser S, Wiltfang J, Windl O, Kretzschmar HA, Weber T. Detection of 14-3-3 protein in the cerebrospinal fluid supports the diagnosis of Creutzfeldt-Jakob disease. Ann Neurol 1998, 43:32-40. 10.1002/ana.410430109, 9450766.
20. Weissmann C. Molecular genetics of transmissible spongiform encephalopathies. J Biol Chem 1999, 274:3-6. 10.1074/jbc.274.1.3, 9867802.
21. Lloyd SE, Onwuazor ON, Beck JA, Mallinson G, Farrall M, Targonski P, Collinge J, Fisher EM. Identification of multiple quantitative trait loci linked to prion disease incubation period in mice. Proc Natl Acad Sci USA 2001, 98:6279-6283. 10.1073/pnas.101130398, 33459, 11353827.
22. Nurmi MH, Bishop M, Strain L, Brett F, McGuigan C, Hutchison M, Farrell M, Tilvis R, Erkkilä S, Simell O, Knight R, Haltia M. The normal population distribution of PRNP codon 129 polymorphism. Acta Neurol Scand 2003, 108:374-378.