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.