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GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study.

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  • معلومة اضافية
    • المصدر:
      Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: London : Nature Publishing Group, copyright 2011-
    • الموضوع:
      Polymorphism, Single Nucleotide*; Apolipoproteins E/*genetics ; Genome-Wide Association Study/*methods ; Glucosylceramidase/*genetics ; Lewy Body Disease/*genetics; Case-Control Studies ; Europe ; Genetic Loci ; Genetic Predisposition to Disease ; Humans ; Iceland ; Norway ; Nuclear Proteins/genetics ; Transcription Factors/genetics
    • نبذة مختصرة :
      Dementia with Lewy Bodies (DLB) is a common neurodegenerative disorder with poor prognosis and mainly unknown pathophysiology. Heritability estimates exceed 30% but few genetic risk variants have been identified. Here we investigated common genetic variants associated with DLB in a large European multisite sample. We performed a genome wide association study in Norwegian and European cohorts of 720 DLB cases and 6490 controls and included 19 top-associated single-nucleotide polymorphisms in an additional cohort of 108 DLB cases and 75545 controls from Iceland. Overall the study included 828 DLB cases and 82035 controls. Variants in the ASH1L/GBA (Chr1q22) and APOE ε4 (Chr19) loci were associated with DLB surpassing the genome-wide significance threshold (p < 5 × 10 -8 ). One additional genetic locus previously linked to psychosis in Alzheimer's disease, ZFPM1 (Chr16q24.2), showed suggestive association with DLB at p-value < 1 × 10 -6 . We report two susceptibility loci for DLB at genome-wide significance, providing insight into etiological factors. These findings highlight the complex relationship between the genetic architecture of DLB and other neurodegenerative disorders.
    • Comments:
      Erratum in: Sci Rep. 2019 Oct 17;9(1):15168. doi: 10.1038/s41598-019-51827-0. (PMID: 31619746)
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    • الرقم المعرف:
      0 (ApoE protein, human)
      0 (Apolipoproteins E)
      0 (Nuclear Proteins)
      0 (Transcription Factors)
      0 (ZFPM1 protein, human)
      EC 3.2.1.45 (GBA protein, human)
      EC 3.2.1.45 (Glucosylceramidase)
    • الموضوع:
      Date Created: 20190509 Date Completed: 20201013 Latest Revision: 20240720
    • الموضوع:
      20250114
    • الرقم المعرف:
      PMC6504850
    • الرقم المعرف:
      10.1038/s41598-019-43458-2
    • الرقم المعرف:
      31065058