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000162718 0247_ $$2ISSN$$a1479-7364
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000162718 037__ $$aDZNE-2021-01375
000162718 041__ $$aEnglish
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000162718 1001_ $$aDehghani, Nadia$$b0
000162718 245__ $$aA comprehensive analysis of copy number variation in a Turkish dementia cohort.
000162718 260__ $$aLondon [u.a.]$$bHenry Stewart Publ.$$c2021
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000162718 520__ $$aCopy number variants (CNVs) include deletions or multiplications spanning genomic regions. These regions vary in size and may span genes known to play a role in human diseases. As examples, duplications and triplications of SNCA have been shown to cause forms of Parkinson's disease, while duplications of APP cause early onset Alzheimer's disease (AD).Here, we performed a systematic analysis of CNVs in a Turkish dementia cohort in order to further characterize the genetic causes of dementia in this population. One hundred twenty-four Turkish individuals, either at risk of dementia due to family history, diagnosed with mild cognitive impairment, AD, or frontotemporal dementia, were whole-genome genotyped and CNVs were detected. We integrated family analysis with a comprehensive assessment of potentially disease-associated CNVs in this Turkish dementia cohort. We also utilized both dementia and non-dementia individuals from the UK Biobank in order to further elucidate the potential role of the identified CNVs in neurodegenerative diseases. We report CNVs overlapping the previously implicated genes ZNF804A, SNORA70B, USP34, XPO1, and a locus on chromosome 9 which includes a cluster of olfactory receptors and ABCA1. Additionally, we also describe novel CNVs potentially associated with dementia, overlapping the genes AFG1L, SNX3, VWDE, and BC039545.Genotyping data from understudied populations can be utilized to identify copy number variation which may contribute to dementia.
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000162718 650_7 $$2Other$$aCopy number variants
000162718 650_7 $$2Other$$aDementia
000162718 650_7 $$2Other$$aGenotyping
000162718 650_2 $$2MeSH$$aATP Binding Cassette Transporter 1: genetics
000162718 650_2 $$2MeSH$$aAdenosine Triphosphatases: genetics
000162718 650_2 $$2MeSH$$aAged
000162718 650_2 $$2MeSH$$aAged, 80 and over
000162718 650_2 $$2MeSH$$aCohort Studies
000162718 650_2 $$2MeSH$$aDNA Copy Number Variations: genetics
000162718 650_2 $$2MeSH$$aDementia: genetics
000162718 650_2 $$2MeSH$$aDementia: pathology
000162718 650_2 $$2MeSH$$aFemale
000162718 650_2 $$2MeSH$$aGenetic Predisposition to Disease
000162718 650_2 $$2MeSH$$aGenome, Human: genetics
000162718 650_2 $$2MeSH$$aGenomics
000162718 650_2 $$2MeSH$$aGenotype
000162718 650_2 $$2MeSH$$aHumans
000162718 650_2 $$2MeSH$$aKaryopherins: genetics
000162718 650_2 $$2MeSH$$aKruppel-Like Transcription Factors: genetics
000162718 650_2 $$2MeSH$$aMale
000162718 650_2 $$2MeSH$$aMiddle Aged
000162718 650_2 $$2MeSH$$aMitochondrial Proteins: genetics
000162718 650_2 $$2MeSH$$aReceptors, Cytoplasmic and Nuclear: genetics
000162718 650_2 $$2MeSH$$aSorting Nexins: genetics
000162718 650_2 $$2MeSH$$aTurkey: epidemiology
000162718 650_2 $$2MeSH$$aUbiquitin-Specific Proteases: genetics
000162718 7001_ $$aGuven, Gamze$$b1
000162718 7001_ $$aKun-Rodrigues, Celia$$b2
000162718 7001_ $$aGouveia, Catarina$$b3
000162718 7001_ $$aFoster, Kalina$$b4
000162718 7001_ $$aHanagasi, Hasmet$$b5
000162718 7001_ $$0P:(DE-2719)2811891$$aLohmann, Ebba$$b6$$udzne
000162718 7001_ $$aSamanci, Bedia$$b7
000162718 7001_ $$aGurvit, Hakan$$b8
000162718 7001_ $$aBilgic, Basar$$b9
000162718 7001_ $$aBras, Jose$$b10
000162718 7001_ $$00000-0001-5879-3486$$aGuerreiro, Rita$$b11
000162718 773__ $$0PERI:(DE-600)2147618-4$$a10.1186/s40246-021-00346-z$$gVol. 15, no. 1, p. 48$$n1$$p48$$tHuman genomics$$v15$$x1479-7364$$y2021
000162718 8564_ $$uhttps://pub.dzne.de/record/162718/files/DZNE-2021-01375.pdf$$yOpenAccess
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000162718 9141_ $$y2021
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