TY  - JOUR
AU  - Dehghani, Nadia
AU  - Guven, Gamze
AU  - Kun-Rodrigues, Celia
AU  - Gouveia, Catarina
AU  - Foster, Kalina
AU  - Hanagasi, Hasmet
AU  - Lohmann, Ebba
AU  - Samanci, Bedia
AU  - Gurvit, Hakan
AU  - Bilgic, Basar
AU  - Bras, Jose
AU  - Guerreiro, Rita
TI  - A comprehensive analysis of copy number variation in a Turkish dementia cohort.
JO  - Human genomics
VL  - 15
IS  - 1
SN  - 1479-7364
CY  - London [u.a.]
PB  - Henry Stewart Publ.
M1  - DZNE-2021-01375
SP  - 48
PY  - 2021
N1  - (CC BY)
AB  - Copy 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.
KW  - ATP Binding Cassette Transporter 1: genetics
KW  - Adenosine Triphosphatases: genetics
KW  - Aged
KW  - Aged, 80 and over
KW  - Cohort Studies
KW  - DNA Copy Number Variations: genetics
KW  - Dementia: genetics
KW  - Dementia: pathology
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Genome, Human: genetics
KW  - Genomics
KW  - Genotype
KW  - Humans
KW  - Karyopherins: genetics
KW  - Kruppel-Like Transcription Factors: genetics
KW  - Male
KW  - Middle Aged
KW  - Mitochondrial Proteins: genetics
KW  - Receptors, Cytoplasmic and Nuclear: genetics
KW  - Sorting Nexins: genetics
KW  - Turkey: epidemiology
KW  - Ubiquitin-Specific Proteases: genetics
KW  - Copy number variants (Other)
KW  - Dementia (Other)
KW  - Genotyping (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:34321086
C2  - pmc:PMC8317312
DO  - DOI:10.1186/s40246-021-00346-z
UR  - https://pub.dzne.de/record/162718
ER  -