Evidence map›Paper›PMID 34321086›Full record

ArticleHuman genomics2021

A comprehensive analysis of copy number variation in a Turkish dementia cohort.

Nadia Dehghani, Gamze Guven, Celia Kun-Rodrigues, Catarina Gouveia, Kalina Foster, Hasmet Hanagasi, Ebba Lohmann, Bedia Samanci, Hakan Gurvit, Basar Bilgic and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 33% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 4 institutions in 3 countries.

Nadia DehghaniDepartment of Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, USA.
Gamze GuvenDepartment of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
Celia Kun-RodriguesDepartment of Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, USA.
Catarina GouveiaDepartment of Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, USA.
Kalina FosterDepartment of Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, USA.
Hasmet HanagasiBehavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Ebba LohmannDepartment of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Bedia SamanciBehavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Hakan GurvitBehavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Basar BilgicBehavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Jose BrasDepartment of Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, USA.
Rita GuerreiroDepartment of Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, USA. Rita.Guerreiro@vai.org.ORCID 0000-0001-5879-3486
Istanbul University · TRVan Andel Institute · USGrand Rapids Community College · USGerman Center for Neurodegenerative Diseases · DE

Funding

Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

backgroundCopy 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).

resultsHere, 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.

conclusionsGenotyping data from understudied populations can be utilized to identify copy number variation which may contribute to dementia.

Indexed as

Genetic Predisposition to DiseaseGenomicsAdenosine TriphosphatasesAgedAged, 80 and overATP Binding Cassette Transporter 1Cohort StudiesDementiaDNA Copy Number VariationsExportin 1 ProteinFemaleGenome, HumanGenotypeHumansKaryopherinsKruppel-Like Transcription FactorsABCA1 protein, humanAdenosine TriphosphatasesAFG1L protein, humanATP Binding Cassette Transporter 1Exportin 1 ProteinKaryopherinsKruppel-Like Transcription FactorsMitochondrial ProteinsReceptors, Cytoplasmic and NuclearSNX3 protein, humanSorting NexinsUbiquitin-Specific ProteasesUSP34 protein, humanZNF804A protein, humanCopy number variantsDementiaGenotyping

Identifiers

PMID34321086
PMCPMC8317312
OpenAlexW3184340485

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.