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Article

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

BMC medical genetics - 22 May 2011

Sanchez-Juan Pascual, Bishop Matthew T, Croes Esther A, Knight Richard Sg, Will Robert G, van Duijn Cornelia M, Manson Jean C

Abstract excerpt

BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a rare transmissible neurodegenerative disorder. An important determinant for CJD risk and phenotype is the M129V polymorphism of the human prion protein gene (PRNP), but there are also other coding and non-coding polymorphisms inside this gene. METHODS: We tested whether three non-coding polymorphism located inside the PRNP regulatory region (C-101G, G310C and...

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Identifiers

PMID: 21600043
DOI: 10.1186/1471-2350-12-73
PMCID: PMC3114709

Genes

PRNP

Variants

Provenance

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.

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A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease.PMID 21600043Read ↗

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

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

PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.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 ↗

Association between the PRNP 1368 polymorphism and the occurrence of sporadic 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 ↗

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

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

A novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes.Semantic proximity Read ↗

The influence of PRNP polymorphisms on human prion disease susceptibility: an update.Semantic proximity Read ↗

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

Analysis of PRNP gene codon 129 polymorphism in the Greek population.Semantic proximity Read ↗

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