PRNP 1368 polymorphism is not associated with sporadic Creutzfeldt-Jakob disease in the Korean population

European Journal of Neurology

Volumn 15, Issue 8, 2008, Pages 846-850

  Jeong, B H ^a   Lee, K H ^b   Lee, Y J ^a   Kim, Y H ^b   Cho, Y S ^b   Carp, R I ^c   Kim, Y S ^a  

^a Hallym University   (South Korea)

^b Samkwang Medical Laboratories   (South Korea)

^c NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

Creutzfeldt jakob disease; Korean; Population genetics; Prion protein gene; Single nucleotide polymorphism

Indexed keywords

PRION PROTEIN; PRNP PROTEIN, HUMAN;

ADULT; ARTICLE; CONTROLLED STUDY; CREUTZFELDT JAKOB DISEASE; DISEASE PREDISPOSITION; DNA POLYMORPHISM; EXON; FEMALE; GENE FREQUENCY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; AGED; ASIAN; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; POLYMERASE CHAIN REACTION; PRION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CREUTZFELDT-JAKOB SYNDROME; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PRIONS;

EID: 54549099084     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2008.02203.x     Document Type: Article

References (36)

1. Prusiner SB. Introduction: prion diseases. Seminars in Virology 1996; 7: 157-173.
2. Goldgaber D, Goldfarb LG, Brown P, et al. Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome. Experimental Neurology 1989; 106: 204-206.
3. Zerr I, Giese A, Windl O, et al. Phenotypic variability in fatal familial insomnia (D178N-129M) genotype. Neurology 1998; 51: 1398-1405.
4. Windl O, Giese A, Schulz-Schaeffer W, et al. Molecular genetics of human prion diseases in Germany. Human Genetics 1999; 105: 244-252.
5. Grasbon-Frodl E, Schmalzbauer R, Weber P, et al. A novel three extra-repeat insertion in the prion protein gene (PRNP) in a patient with Creutzfeldt-Jakob disease. Neurogenetics 2004; 5: 249-250.
6. Collinge J, Palmer MS, Dryden AJ. Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet 1991; 337: 1411-1442.
7. Palmer MS, Dryden AJ, Hughes JT, Collinge J. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 1991; 352: 340-342.
8. Shibuya S, Higuchi J, Shin RW, Tateishi J, Kitamoto T. Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease. Annals of Neurology 1998; 43: 826-828.
9. Deslys JP, Marce D, Dormont D. Similar genetic susceptibility in iatrogenic and sporadic Creutzfeldt-Jakob disease. The Journal ofGeneral Virology 1994; 75: 23-27.
10. Doh-ura K, Kitamoto T, Sakaki Y, Tateishi J. CJD discrepancy. Nature 1991; 353: 801-802.
11. Collinge J, Sidle KC, Meads J, Ironside J, Hill AF. Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD. Nature 1996; 383: 685-690.
12. Furukawa H, Kitamoto T, Tanaka Y, Tateishi J. New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome. Molecular Brain Research 1995; 30: 385-388.
13. Jeong BH, Nam JH, Lee YJ, et al. Polymorphisms of the prion protein gene (PRNP) in a Korean population. Journal of Human Genetics 2004; 49: 319-324.
14. Petraroli R, Pocchiari M. Codon 219 polymorphism of PRNP in healthy Caucasians and Creutzfeldt-Jakob disease patients. American Journal ofHuman Genetics 1996; 58: 888-889.
15. Jeong BH, Lee KH, Kim NH, et al. Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population. Neurogenetics 2005; 6: 229-232.
16. Bueler H, Aguzzi A, Sailer A, et al. Mice devoid of PrP are resistant to scrapie. Cell 1993; 73: 1339-1347.
17. McCormack JE, Baybutt HN, Everington D, et al. PRNP contains both intronic and upstream regulatory regions that may influence susceptibility to Creutzfeldt-Jakob disease. Gene 2002; 288: 139-146.
18. Bratosiewicz-Wasik J, Liberski PP, Golanska E, Jansen GH, Wasik TJ. Regulatory sequences of the PRNP gene influence susceptibility to sporadic Creutzfeldt-Jakob disease. Neuroscience Letters 2007; 411: 163-167.
19. Vollmert C, Windl O, Xiang W, et al. Significant association of a M129V independent polymorphism in the 5′ the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study. Journal of Medical Genetics 2006; 43: e53.
20. ead S, Mahal SP, Beck J, et al. Sporadic, but not variant, Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. American Journal of Human Genetics 2001; 69: 1225-1235.
21. Croes EA, Alizadeh BZ, Bertoli-Avella AM, et al. Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease. European Journal ofHuman Genetics 2004; 12: 389-394.
22. Zerr I, Pocchiari M, Collins S, et al. Analysis of EEG and CSF 14-3-3 proteins as aids to the diagnosis of Creutz-feldt-Jakob disease. Neurology 2000; 55: 811-815.
23. Jeong BH, Ju WK, Huh K, et al. Molecular analysis of prion protein gene (PRNP) in Korean patients with Creutzfeldt-Jakob disease. Journal of Korean Medical Science 1998; 13: 234-240.
24. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. American Journal of Human Genetics 2001; 68: 978-989.
25. Rohrer JD, Mead S, Omar R, et al. Prion protein (PRNP) genotypes in frontotemporal lobar degeneration syndromes. Annals of Neurology 2006; 60: 616.
26. Sanders P, Hamann H, Pfeiffer I, et al. Analysis of sequence variability of the bovine prion protein gene (PRNP) in German cattle breeds. Neurogenetics 2004; 5: 19-25.
27. Westaway D, Mirenda CA, Foster D, 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.
28. Collinge J, Palmer MS, Sidle KC, et al. Unaltered susceptibility to BSE in transgenic mice expressing human prion protein. Nature 1995; 378: 778-783.
29. Jeong BH, Lee YJ, Kim NH, Carp RI, Kim YS. Genotype distribution of the prion protein gene (PRNP) promoter polymorphisms in Korean cattle. Genome 2006; 49: 1539-1544.
30. Kashkevich K, Humeny A, Ziegler U, et al. Functional relevance of DNA polymorphisms within the promoter region of the prion protein gene and their association to BSE infection. FASEB Journal 2007; 21: 1547-1555.
31. Jeong BH, Sohn HJ, Lee JO, et al. Polymorphisms of the prion protein gene (PRNP) in Hanwoo (Bos taurus coreanae) and Holstein cattle. Genes & Genetic Systems 2005; 80: 303-308.
32. Sander P, Hamann H, Drogemuller C, et al. Bovine prion protein gene (PRNP) promoter polymorphisms modulate PRNP expression and may be responsible for differences in bovine spongiform encephalopathy susceptibility. The Journal of Biological Chemistry 2005; 280: 37408-37414.
33. Jeong BH, Na HR, Bae JC, et al. Absence of association between codon 129 and219 polymorphisms of the prion protein gene and vascular dementia. Dementia and Geriatric Cognitive Disorders 2007; 24: 86-90.
34. Jeong BH, Lee KH, Jeong YE, et al. Polymorphisms at codons 129 and 219 of the prion protein gene (PRNP) are not associated with sporadic Alzheimer's disease in the Korean population. European Journal of Neurology 2007; 14: 621-626.
35. Jeong BH, Kim NH, Choi EK, et al. Polymorphism at 3′ UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt-Jakob disease. European Journal of Human Genetics 2005; 13: 1094-1097.
36. Jeong BH, Kim NH, Kim JI, Carp RI, Kim YS. Polymorphisms at codons 56 and 174 of the prion-like protein gene (PRND) are not associated with sporadic Creutzfeldt-Jakob disease. Journal of Human Genetics 2005; 50: 311-314.