GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study.
Apolipoproteins E
/ genetics
Case-Control Studies
Europe
Genetic Loci
Genetic Predisposition to Disease
Genome-Wide Association Study
/ methods
Glucosylceramidase
/ genetics
Humans
Iceland
Lewy Body Disease
/ genetics
Norway
Nuclear Proteins
/ genetics
Polymorphism, Single Nucleotide
Transcription Factors
/ genetics
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
07 05 2019
07 05 2019
Historique:
received:
05
07
2018
accepted:
24
04
2019
entrez:
9
5
2019
pubmed:
9
5
2019
medline:
21
10
2020
Statut:
epublish
Résumé
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
Identifiants
pubmed: 31065058
doi: 10.1038/s41598-019-43458-2
pii: 10.1038/s41598-019-43458-2
pmc: PMC6504850
doi:
Substances chimiques
ApoE protein, human
0
Apolipoproteins E
0
Nuclear Proteins
0
Transcription Factors
0
ZFPM1 protein, human
0
GBA protein, human
EC 3.2.1.45
Glucosylceramidase
EC 3.2.1.45
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
7013Commentaires et corrections
Type : ErratumIn
Références
JAMA Neurol. 2013 Feb;70(2):223-8
pubmed: 23407718
J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):113-118
pubmed: 27794030
Transl Psychiatry. 2015 Jun 02;5:e574
pubmed: 26035058
Ann Neurol. 2004 Feb;55(2):174-9
pubmed: 14755720
Dement Geriatr Cogn Disord. 2012;34(1):1-6
pubmed: 22854420
Arch Neurol. 2011 Mar;68(3):359-64
pubmed: 21403021
Int J Geriatr Psychiatry. 2014 Apr;29(4):392-8
pubmed: 23943275
Nat Genet. 2014 Sep;46(9):989-93
pubmed: 25064009
J Neurol Neurosurg Psychiatry. 2014 Nov;85(11):1227-31
pubmed: 24639435
Neurology. 2017 Jul 4;89(1):88-100
pubmed: 28592453
Dement Geriatr Cogn Disord. 2014;38(3-4):161-9
pubmed: 24732348
Int J Geriatr Psychiatry. 2016 Sep;31(9):1075-83
pubmed: 26765199
Neurobiol Dis. 2016 Oct;94:55-62
pubmed: 27312774
Transl Psychiatry. 2016 Feb 02;6:e728
pubmed: 26836416
JAMA Neurol. 2013 Jun;70(6):727-35
pubmed: 23588557
N Z Med J. 1997 Jun 13;110(1045):216-7
pubmed: 9216610
J Neurosci. 2007 Feb 7;27(6):1405-10
pubmed: 17287515
Hum Mol Genet. 2005 Aug 15;14(16):2399-404
pubmed: 16000317
JAMA Neurol. 2016 Oct 1;73(10):1217-1224
pubmed: 27571329
Lancet Neurol. 2018 Jan;17(1):64-74
pubmed: 29263008
J Biol Chem. 2012 Dec 28;287(53):44593-601
pubmed: 23132858
Hum Mol Genet. 2014 Dec 1;23(23):6139-46
pubmed: 24973356
Mov Disord. 2016 Jan;31(1):95-102
pubmed: 26296077
BMJ Open. 2016 Feb 29;6(2):e010357
pubmed: 26928028
Neurosci Lett. 2017 Sep 29;658:48-52
pubmed: 28830825
Nat Commun. 2017 Nov 28;8(1):1826
pubmed: 29184056
PLoS Genet. 2014 Sep 04;10(9):e1004606
pubmed: 25188341
Am J Geriatr Psychiatry. 2014 Apr;22(4):381-8
pubmed: 23567428
Biometrics. 1999 Dec;55(4):997-1004
pubmed: 11315092
Neurobiol Aging. 2016 Feb;38:214.e7-214.e10
pubmed: 26643944
Nucleic Acids Res. 2012 May;40(9):3777-84
pubmed: 22241776
J Alzheimers Dis. 2017;59(4):1139-1152
pubmed: 28731443