ArticleHuman genetics1994
Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease.
Article in Human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (Cells · 2021Pooled it
- Preventive or promotive effects ofHeliyon · 2023Article
- First report of a novel polymorphism and genetic characteristics of the leporine prion protein (Frontiers in veterinary science · 2023Article
- Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.Acta neuropathologica communications · 2019Article
- Sporadic Creutzfeldt-Jakob Disease: Prion Pathology in Medulla Oblongata-Possible Routes of Infection and Host Susceptibility.BioMed research international · 2015Article
- Incidence of Creutzfeldt-Jakob disease in Taiwan: a prospective 10-year surveillance.European journal of epidemiology · 2010Article
- Analysis of PRNP gene codon 129 polymorphism in the Greek population.European journal of epidemiology · 2006Article
- 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.European journal of epidemiology · 2005Article
- Polymorphisms of the prion protein gene (PRNP) in a Korean population.Journal of human genetics · 2004Article
- Prion diseases.Journal of neurovirology · 2003Review
- Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1.American journal of human genetics · 2001Article
- Codon 219 polymorphism of PRNP in healthy Caucasians and Creutzfeldt-Jakob disease patients.American journal of human genetics · 1996Article
- Prions and related neurological diseases.Molecular aspects of medicine · 1994Review
- Function of PrPC (1-OPRD) in biological activities of gastric cancer cell lines.Journal of cellular and molecular medicineArticle
Corrections and comments
- Erratum issued
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative disorder characterized by the accumulation of the amyloid protein PrP in the CNS. Two coding polymorphisms of the PrP gene (PRNP) are a methionine (Met) to valine (Val) change at codon 129, and a deletion in the octapeptide coding region. In the United Kingdom, homozygosity at codon 129 appears to be associated with a predisposition to develop CJD. However, in Japan, where allelic frequencies and genotype distribution are significantly different, such an association has not been demonstrated. To determine whether such deletion(s) or codon 129 polymorphisms of PRNP predispose to the development of CJD in Italian patients, 31 sporadic CJD patients with no known PRNP mutations, and 186 unrelated control subjects were studied. Genotypic frequencies at codon 129 in these Italian CJD patients revealed a significant excess of methionine alleles, and a different genotype distribution in comparison with the normal Italian population. Deletions of a 24-bp segment located in the PrP octapeptide coding region were found in two control subjects, but in none of the sporadic CJD patients. These data suggest that Met homozygosity at codon 129 may contribute, with other environmental or endogenous factors, to CJD development.
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