ArticleJournal of medical genetics2006
Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.Human molecular genetics · 2012Pooled it
- No association of prion protein gene (Molecular & cellular toxicology · 2022Article
- The First Evaluation of Proteinase K-Resistant Prion Protein (PrPMedicina (Kaunas, Lithuania) · 2022Article
- Prion protein gene mutation detection using long-read Nanopore sequencing.Scientific reports · 2022Article
- Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.The Lancet. Neurology · 2020Article
- Genetic studies in human prion diseases.Journal of Korean medical science · 2014Review
- A novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes.Journal of neurology · 2013Article
- Article
- A polymorphism in the YWHAH gene encoding 14-3-3 eta that is not associated with sporadic Creutzfeldt-Jakob disease (CJD).Molecular biology reports · 2012Article
- Large effects on body mass index and insulin resistance of fat mass and obesity associated gene (FTO) variants in patients with polycystic ovary syndrome (PCOS).BMC medical genetics · 2010Article
- Genomic and post-genomic analyses of human prion diseases.Genome medicine · 2009Article
- Lack of association between PRNP 1368 polymorphism and Alzheimer's disease or vascular dementia.BMC medical genetics · 2009Article
- A case-control study of sporadic Creutzfeldt-Jakob disease in Switzerland: analysis of potential risk factors with regard to an increased CJD incidence in the years 2001-2004.BMC public health · 2009Article
- Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.The Lancet. Neurology · 2009Article
- Technologies in the Whole-Genome Age: MALDI-TOF-Based Genotyping.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2009Article
- Gene-gene interaction between APOA5 and USF1: two candidate genes for the metabolic syndrome.Obesity facts · 2009Article
- Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.Brain : a journal of neurology · 2008Article
- Article
- Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.PloS one · 2007 · on this mapArticle
- Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA single nucleotide polymorphism (SNP) in the coding region of the prion protein gene (PRNP) at codon 129 has been repeatedly shown to be an associated factor to sporadic Creutzfeldt-Jakob disease (sCJD), but additional major predisposing DNA variants for sCJD are still unknown. Several previous studies focused on the characterisation of polymorphisms in PRNP and the prion-like doppel gene (PRND), generating contradictory results on relatively small sample sets. Thus, extensive studies are required for validation of the polymorphisms in PRNP and PRND.
methodsWe evaluated a set of nine SNPs of PRNP and one SNP of PRND in 593 German sCJD patients and 748 German healthy controls. Genotyping was performed using MALDI-TOF mass spectrometry.
resultsIn addition to PRNP 129, we detected a significant association between sCJD and allele frequencies of six further PRNP SNPs. No significant association of PRND T174M with sCJD was shown. We observed strong linkage disequilibrium within eight adjacent PRNP SNPs, including PRNP 129. However, the association of sCJD with PRNP 1368 and PRNP 34296 appeared to be independent on the genotype of PRNP 129. We additionally identified the most common haplotypes of PRNP to be over-represented or under-represented in our cohort of patients with sCJD.
conclusionOur study evaluated previous findings of the association of SNPs in the PRNP and PRND genes in the largest cohorts for association study in sCJD to date, and extends previous findings by defining for the first time the haplotypes associated with sCJD in a large population of the German CJD surveillance study.
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