ArticlePrion
Association between the PRNP 1368 polymorphism and the occurrence of sporadic Creutzfeldt-Jakob disease.
Article in Prion. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- No association of prion protein gene (Molecular & cellular toxicology · 2022Article
- Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.The Lancet. Neurology · 2020Article
- Three sporadic cases of Creutzfeldt-Jakob disease in China and their clinical analysis.Experimental and therapeutic medicine · 2017Article
- Genetic studies in human prion diseases.Journal of Korean medical science · 2014Review
- Article
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8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Creutzfeldt-Jakob disease (CJD) is a rare transmissible neurodegenerative disorder. The etiology of sporadic form of CJD remains unsolved. In addition to the codon 129 polymorphism, polymorphisms in the non-coding region of PRNP are considered as important factors in sCJD development. To assess a possible association between PRNP 1368 SNP and sCJD, we compared the genotype, allele and haplotype frequencies of the 1368 SNP among 46 sCJD patients of Dutch origin with the respective frequencies in healthy controls. We detected a significant association between sCJD and 1368T/T genotype. A significant difference was also observed in 1368 alleles' distribution. In the haplotype analysis, haplotype 1368C-129G was associated with decreased risk of sCJD in Dutch population. Our findings support the hypothesis that genetic variations in the regulatory region of the PRNP gene may influence the pathogenesis of sCJD.
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