Polymorphism at 3′ UTR + 28 of the prion-like protein gene is associated with sporadic Creutzfeldt-Jakob disease

European Journal of Human Genetics

Volumn 13, Issue 9, 2005, Pages 1094-1097

  Jeong, Byung Hoon ^a   Kim, Nam Ho ^a   Choi, Eun Kyoung ^a   Lee, Chaeyoung ^a   Song, Young Han ^a   Kim, Jae Il ^b   Carp, Richard I ^b   Kim, Yong Sun ^a  

^a Hallym University   (South Korea)

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

Author keywords

Creutzfeldt Jakob disease; Genetic susceptibility; Prion like protein gene; Single nucleotide polymorphism

Indexed keywords

3' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; CONTROLLED STUDY; CREUTZFELDT JAKOB DISEASE; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENOTYPE; HUMAN; KOREA; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; AMINO ACID SEQUENCE; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRION; UNTRANSLATED REGION;

APOLIPOPROTEIN E; PRND PROTEIN, HUMAN;

AGED; AMINO ACID SEQUENCE; APOLIPOPROTEINS E; BASE SEQUENCE; CREUTZFELDT-JAKOB SYNDROME; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KOREA; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; OPEN READING FRAMES; POLYMORPHISM, SINGLE NUCLEOTIDE; PRIONS; UNTRANSLATED REGIONS;

EID: 27244447041     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201460     Document Type: Article

References (24)

1. Prusiner SB: Introduction: prion diseases. Sem Virol 1996; 7: 157-173.
2. Doh-ura K, Tateishi J, Sasaki H, Kitamoto T, Sakaki Y: Pro → leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome. Biochem Biophys Res Commun 1989; 163: 974-979.
3. Goldfarb LG, Brown P, McCombie WR et al: Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc Natl Acad Sci USA 1991; 88: 10926-10930.
4. Medori R, Montagna P, Tritschler HJ et al: Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178. Neurology 1992; 42: 669-670.
5. Collinge J, Palmer MS, Dryden AJ: Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet 1991; 337: 1411-1442.
6. Palmer MS, Dryden AJ, Hughes JT, Collinge J: Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 1991; 352: 340-342.
7. Shibuya S, Higuchi J, Shin RW, Tateishi J, Kitamoto T: Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease. Ann Neurol 1998; 43: 826-828.
8. Moore RC, Lee IY, Silverman GL et al: Ataxia in prion protein (PrP)-deficient mice is associated with upregulation of the novel PrP-like protein doppel. J Mol Biol 1999; 292: 797-817.
9. Mead S, Beck J, Dickinson A, Fisher EM, Collinge J: Examination of the human prion protein-like gene doppel for genetic susceptibility to sporadic and variant Creutzfeldt-Jakob disease. Neurosci Lett 2000; 290: 117-120.
10. Peoc'h K, Guerin C, Brandel JP, Launay JM, Laplanche JL: First report of polymorphisms in the prion-like protein gene (PRND): implications for human prion diseases. Neurosci Lett 2000; 286: 144-148.
11. Schroder B, Franz B, Hempfling P et al: Polymorphisms within the prion-like protein gene (Prnd) and their implications in human prion diseases, Alzheimer's disease and other neurological disorders. Hum Genet 2001; 109: 319-325.
12. Infante J, Llorca J, Rodero L, Palacio E, Berciano J, Combarros O: Polymorphism at codon 174 of the prion-like protein gene is not associated with sporadic Alzheimer's disease. Neurosci Lett 2002; 332: 213-215.
13. 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. Eur J Hum Genet 2004; 12: 389-394.
14. Golanska E, Hulas-Bigoszewska K, Rutkiewicz E et al: Polymorphisms within the prion (PrP) and prion-like protein (Doppel) genes in AD. Neurology 2004; 62: 313-315.
15. Zerr I, Pocchiari M, Collins S et al: Analysis of EEG and CSF 14-3-3 proteins as aids to the diagnosis of Creutzfeldt-Jakob disease. Neurology 2000; 55: 811-815.
16. Jeong BH, Ju WK, Huh K et al: Molecular analysis of prion protein gene (PRNP) in Korean patients with Creutzfeldt-Jakob disease. J Kor Med Sci 1998; 13: 234-240.
17. Hedrick PW: Gametic disequilibrium measures: proceed with caution. Genetics 1987; 117: 331-341.
18. Hedrick P, Kumar S: Mutation and linkage disequilibrium in human mtDNA. Eur J Hum Genet 2001; 9: 969-972.
19. Mead S, Mahal SP, Beck J et al: Sporadic - but not variant - Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP Exon 1. Am J Hum Genet 2001; 69: 1225-1235.
20. Pesole G, Mignone F, Gissi C, Grillo G, Licciulli F, Liuni S: Structural and functional features of eukaryotic mRNA untranslated regions. Gene 2001; 276: 73-81.
21. Peoc'h K, Volland H, De Gassart A et al: Prion-like protein doppel expression is not modified in scrapie-infected cells and in the brains of patients with Creutzfeldt-Jakob disease. FEBS Lett 2003; 536: 61-65.
22. Jupe ER, Badgett AA, Neas BR et al: Single nucleotide polymorphism in prohibitin 3′ untranslated region and breast-cancer susceptibility. Lancet 2001; 357: 1588-1589.
23. Tan MS, Chang SY, Chang DM, Tsai JCR, Lee YJ: Association of Resistin gene 3′-untranslated region +62GA polymorphism with type 2 diabetes and hypertension in a Chinese population. J Clin Endocrinol Meta 2003; 88: 1258-1263.
24. Jeong BH, Nam JH, Lee YJ et al: Polymorphisms of the prion protein gene (PRNP) in a Korean population. J Hum Genet 2004; 49: 319-324.