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@ARTICLE{Dehghani:162718,
      author       = {Dehghani, Nadia and Guven, Gamze and Kun-Rodrigues, Celia
                      and Gouveia, Catarina and Foster, Kalina and Hanagasi,
                      Hasmet and Lohmann, Ebba and Samanci, Bedia and Gurvit,
                      Hakan and Bilgic, Basar and Bras, Jose and Guerreiro, Rita},
      title        = {{A} comprehensive analysis of copy number variation in a
                      {T}urkish dementia cohort.},
      journal      = {Human genomics},
      volume       = {15},
      number       = {1},
      issn         = {1479-7364},
      address      = {London [u.a.]},
      publisher    = {Henry Stewart Publ.},
      reportid     = {DZNE-2021-01375},
      pages        = {48},
      year         = {2021},
      note         = {(CC BY)},
      abstract     = {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.},
      keywords     = {ATP Binding Cassette Transporter 1: genetics / Adenosine
                      Triphosphatases: genetics / Aged / Aged, 80 and over /
                      Cohort Studies / DNA Copy Number Variations: genetics /
                      Dementia: genetics / Dementia: pathology / Female / Genetic
                      Predisposition to Disease / Genome, Human: genetics /
                      Genomics / Genotype / Humans / Karyopherins: genetics /
                      Kruppel-Like Transcription Factors: genetics / Male / Middle
                      Aged / Mitochondrial Proteins: genetics / Receptors,
                      Cytoplasmic and Nuclear: genetics / Sorting Nexins: genetics
                      / Turkey: epidemiology / Ubiquitin-Specific Proteases:
                      genetics / Copy number variants (Other) / Dementia (Other)
                      / Genotyping (Other)},
      cin          = {AG Gasser 1},
      ddc          = {570},
      cid          = {I:(DE-2719)1210000},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34321086},
      pmc          = {pmc:PMC8317312},
      doi          = {10.1186/s40246-021-00346-z},
      url          = {https://pub.dzne.de/record/162718},
}