ArticleNeurogenetics2005
Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population.
Article in Neurogenetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.
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Who cites it
46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 87 citations in OpenAlex.
- Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt-Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene.International journal of molecular sciences · 2022Pooled it
- The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (Cells · 2021Pooled it
- Novel polymorphisms and functional characterization of the prion protein gene in sparrows (Frontiers in veterinary science · 2026Article
- First report of novel single-nucleotide polymorphisms and genetic characteristics in the open reading frame of the prion protein gene (Frontiers in veterinary science · 2026Article
- First Report of Polymorphisms and Genetic Characteristics ofAnimals : an open access journal from MDPI · 2024Article
- The First Genetic Characterization of theAnimals : an open access journal from MDPI · 2024Article
- Prion protein E219K polymorphism: from the discovery of the KANNO blood group to interventions for human prion disease.Frontiers in neurology · 2024Review
- Novel polymorphisms in the prion protein gene (PRNP) and stability of the resultant prion protein in different horse breeds.Veterinary research · 2023Article
- The first report of polymorphisms of the prion protein gene (Frontiers in veterinary science · 2023Article
- First report of a novel polymorphism and genetic characteristics of the leporine prion protein (Frontiers in veterinary science · 2023Article
- Prion Mutations in Republic of Republic of Korea, China, and Japan.International journal of molecular sciences · 2022Review
- No association of prion protein gene (Molecular & cellular toxicology · 2022Article
- The First Evaluation of Proteinase K-Resistant Prion Protein (PrPMedicina (Kaunas, Lithuania) · 2022Article
- The First Report of the Prion Protein Gene (Genes · 2021Article
- Association Study of the M132L Single Nucleotide Polymorphism With Susceptibility to Chronic Wasting Disease in Korean Elk: A Meta-Analysis.Frontiers in veterinary science · 2021Article
- Epidemiological and Clinical Characteristics of Sporadic Creutzfeldt-Jakob Disease: A Retrospective Study in Eastern China.Frontiers in neurology · 2021Article
- Article
- Identification of the prion-related protein gene (PRNT) sequences in various species of the Cervidae family.Molecular biology reports · 2020Article
- Novel Polymorphisms and Genetic Characteristics of the Prion Protein Gene (International journal of molecular sciences · 2020Article
- Article
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human prion protein gene (PRNP) is considered an important gene in determining the incidence of human transmissible spongiform encephalopathies or prion diseases. Polymorphisms of PRNP at codon 129 in Europeans and codon 219 in Japanese may play an important role in the susceptibility to sporadic Creutzfeldt-Jakob disease (CJD); data regarding codon 129 in the Japanese population have led to divergent interpretations. In order to determine which, if any, of the PRNP genotypes in Korean people are associated with sporadic CJD, we examined the genotype and allelic distributions of human PRNP polymorphisms in 150 patients with sporadic CJD. All Korean sporadic CJD patients were Met/Met at codon 129, Glu/Glu at codon 219 and undeleted at the octarepeat region of PRNP. Our study showed significant differences in genotype frequency of PRNP at codon 129 (chi 2=8.8998, P=0.0117) or 219 (chi 2=12.6945, P=0.0004) between sporadic CJD and normal controls. Furthermore, the genotype frequency of the heterozygotes for codons 129 and/or 219 showed a significant difference between the normal population and sporadic CJD patients (chi 2=21.0780, P<0.0001).
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