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

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.

journal_name

BMC Med Genet

journal_title

BMC medical genetics

authors

Balendra R,Uphill J,Collinson C,Druyeh R,Adamson G,Hummerich H,Zerr I,Gambetti P,Collinge J,Mead S

doi

10.1186/s12881-016-0278-2

subject

Has Abstract

pub_date

2016-04-07 00:00:00

pages

28

issn

1471-2350

pii

10.1186/s12881-016-0278-2

journal_volume

17

pub_type

杂志文章

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