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

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. The trans-ancestral genomic architecture of glycemic traits

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Genetic analyses identify widespread sex-differential participation bias

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Associations between patterns in comorbid diagnostic trajectories of individuals with schizophrenia and etiological factors

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10(-15)), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10(-6)). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 × 10(-11)) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10(-5)). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.

OriginalsprogEngelsk
TidsskriftNature Genetics
Vol/bind49
Udgave nummer1
Sider (fra-til)27-35
Antal sider9
ISSN1061-4036
DOI
StatusUdgivet - jan. 2017

ID: 49759351