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Article

Association of the PRNP regulatory region polymorphisms with the occurrence of sporadic Creutzfeldt-Jakob disease.

Folia neuropathologica - 1 Jan 2012

Bratosiewicz-Wąsik Jolanta, Smoleń-Dzirba Joanna, Watała Cezary, Rozemuller Annemieke J, Jansen Casper, Spliet Wim, Jansen Gerard H, Wąsik Tomasz J, Liberski Paweł P

Abstract excerpt

The prion protein (PrP) plays a central role in the pathogenesis of Creutzfeldt-Jakob disease and other transmissible spongiform encephalopathies (TSEs). Mutations in the coding region of the prion protein (PRNP) gene are linked to inherited forms of TSEs whereas aetiology of sporadic CJD (sCJD) remains obscure. It remains unclear whether the primary DNA sequence at non-coding region of PRNP gene influences...

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Identifiers

PMID: 22505365

Genes

PRNP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Association of the PRNP regulatory region polymorphisms with the occurrence of sporadic Creutzfeldt-Jakob disease.PMID 22505365Read ↗

Regulatory sequences of the PRNP gene influence susceptibility to sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Association between the PRNP 1368 polymorphism and the occurrence of sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

PRNP contains both intronic and upstream regulatory regions that may influence susceptibility to Creutzfeldt-Jakob Disease.Semantic proximity Read ↗

A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Genetic studies in human prion diseases.Semantic proximity Read ↗

Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1.Semantic proximity Read ↗

Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.Semantic proximity Read ↗

Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene.Semantic proximity Read ↗

Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.Semantic proximity Read ↗

Polymorphism at 3' UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Significant association of a M129V independent polymorphism in the 5′ UTR of the <i>PRNP</i> gene with sporadic Creutzfeldt-Jakob disease in a large German case-control studySemantic proximity Read ↗

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