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Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study

dc.contributor.authorBalendra, Rubika
dc.contributor.authorUphill, James
dc.contributor.authorCollinson, Claire
dc.contributor.authorDruyeh, Ronald
dc.contributor.authorAdamson, Gary
dc.contributor.authorHummerich, Holger
dc.contributor.authorZerr, Inga
dc.contributor.authorGambetti, Pierluigi
dc.contributor.authorCollinge, John
dc.contributor.authorMead, Simon
dc.date.accessioned2016-04-07T06:02:17Z
dc.date.available2016-04-07T06:02:17Z
dc.date.issued2016
dc.identifier.urihttp://resolver.sub.uni-goettingen.de/purl?gs-1/13169
dc.description.abstractAbstract Background Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) replicated association at genome-wide levels of significance has proven elusive. A recent association study identified variants in or near to the PLCXD3 gene locus as strong disease risk factors in multiple human prion diseases. This study claimed the first non-PRNP locus to be highly significantly associated with prion disease in genomic studies. Methods A sub-study of a genome-wide association study with imputation aiming to replicate the finding at PLCXD3 including 129 vCJD and 2500 sCJD samples. Whole exome sequencing to identify rare coding variants of PLCXD3. Results Imputation of relevant polymorphisms was accurate based on wet genotyping of a sample. We found no supportive evidence that PLCXD3 variants are associated with disease. Conclusion The marked discordance in vCJD genotype frequencies between studies, despite extensive overlap in vCJD cases, and the finding of Hardy-Weinberg disequilibrium in the original study, suggests possible reasons for the discrepancies between studies.
dc.language.isoeng
dc.identifier.bibliographicCitationBMC Medical Genetics. 2016 Apr 07;17(1):28
dc.rightsopenAccess
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleVariants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study
dc.typejournalArticle
dc.identifier.doi10.1186/s12881-016-0278-2
dc.type.versionpublishedVersion
dc.date.updated2016-04-07T06:02:17Z
dc.rights.holderBalendra et al.
dc.bibliographicCitation.volume17
dc.bibliographicCitation.issue1
dc.type.subtypejournalArticle
dc.identifier.pmid27055460
dc.bibliographicCitation.articlenumber28
dc.description.statuspeerReviewed
dc.bibliographicCitation.journalBMC Medical Genetics


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