Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Systemic DNA and RNA damage from oxidation after serotonergic treatment of unipolar depression

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Genetic association study of childhood aggression across raters, instruments, and age

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Pharmacogenetic genotype and phenotype frequencies in a large Danish population-based case-cohort sample

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Serotonin transporter availability increases in patients recovering from a depressive episode

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Circadian rhythm of markers of bone turnover in patients with chronic kidney disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. The Arg82Cys polymorphism of the protein Nepmucin implies a role in HDL metabolism

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Administration of whey protein complexed vitamin D3 to vitamin D3-deficient growing Sprague-Dawley rats

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Bone involvement in patients with spondyloarthropathies

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

  • Ida E Sønderby
  • Dennis van der Meer
  • Clara Moreau
  • Tobias Kaufmann
  • G Bragi Walters
  • Maria Ellegaard
  • Abdel Abdellaoui
  • David Ames
  • Katrin Amunts
  • Micael Andersson
  • Nicola J Armstrong
  • Manon Bernard
  • Nicholas B Blackburn
  • John Blangero
  • Dorret I Boomsma
  • Henry Brodaty
  • Rachel M Brouwer
  • Robin Bülow
  • Rune Bøen
  • Wiepke Cahn
  • Vince D Calhoun
  • Svenja Caspers
  • Christopher R K Ching
  • Sven Cichon
  • Simone Ciufolini
  • Benedicto Crespo-Facorro
  • Joanne E Curran
  • Anders M Dale
  • Shareefa Dalvie
  • Paola Dazzan
  • Eco J C de Geus
  • Greig I de Zubicaray
  • Sonja M C de Zwarte
  • Sylvane Desrivieres
  • Joanne L Doherty
  • Gary Donohoe
  • Bogdan Draganski
  • Stefan Ehrlich
  • Else Eising
  • Thomas Espeseth
  • Kim Fejgin
  • Simon E Fisher
  • Tormod Fladby
  • Oleksandr Frei
  • Vincent Frouin
  • Masaki Fukunaga
  • Thomas Gareau
  • Niklas R Jørgensen
  • Jacob Nielsen
  • Andrew J Schork
  • ENIGMA-CNV working group
Vis graf over relationer

Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.

OriginalsprogEngelsk
Artikelnummer182
TidsskriftTranslational psychiatry
Vol/bind11
Udgave nummer1
Sider (fra-til)182
Antal sider1
ISSN2158-3188
DOI
StatusUdgivet - 22 mar. 2021

ID: 64874589