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

2016 | journal article. A publication with affiliation to the University of Göttingen.

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​Balendra R, Uphill J, Collinson C, Druyeh R, Adamson G, Hummerich H, et al. ​Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study​. ​​BMC Medical Genetics. ​2016;​17​. ​doi:10.1186/s12881-016-0278-2. 

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Authors
Balendra, Rubika; Uphill, James; Collinson, Claire; Druyeh, Ronald; Adamson, Gary; Hummerich, Holger; Zerr, Inga; Gambetti, Pierluigi; Collinge, John; Mead, Simon
Abstract
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.
Issue Date
2016
Status
published
Publisher
Biomed Central Ltd
Journal
BMC Medical Genetics 
ISSN
1471-2350

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