Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study
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- 作者：Rubika Balendra ; James Uphill ; Claire Collinson ; Ronald Druyeh…
- 关键词：Human prion diseases ; Creutzfeldt ; Jakob disease ; PLCXD3
- 刊名：BMC Medical Genetics
- 出版年：2016
- 出版时间：December 2016
- 年：2016
- 卷：17
- 期：1
- 全文大小：710 KB
- 刊物主题：Human Genetics; Genetics and Population Dynamics;
- 出版者：BioMed Central
- ISSN：1471-2350
文摘
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.