The phenotypic manifestations of rare CNVs in schizophrenia

Merikangas, Alison; Segurado, Ricardo; Cormican, Paul; Heron, Elizabeth A.; Anney, Richard; Moore, Susan; Kelleher, Eric; Hargreaves, April; Anderson‐Schmidt, Heike; Gill, Michael; Gallagher, Louise; Corvin, Aiden

doi:10.1016/j.schres.2014.06.016

Cited by 22 publications

(7 citation statements)

References 60 publications

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“…Die resultate sou gebruik kon word in genetiese studies van die toestand. Hierdie bevindings kan daarop dui dat daar twee paaie is wat lei na skisofrenie: een deur die direkte genetiese vatbaarheid aangedui deur positiewe familiegeskiedenis, en die ander deur omgewingsinvloede wat die gene of paaie ontwrig wat die fenotipiese manifestasies van skisofrenie onderlê (Merikangas et al 2014). Kombinasies hiervan is ook moontlik.…”

Section: Sporadiese Sas Van Die Bipolêre Tipe En Genetiese Studies Van Skisofrenieunclassified

Vatbaarheid vir skisofrenie by 22q11.2-mikroweglatings

Roos¹

2019

Genetiese Bevindings in ‘N Groep Afrikaners Met Skisofrenie

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Section: Sporadiese Sas Van Die Bipolêre Tipe En Genetiese Studies Van Skisofrenieunclassified

Vatbaarheid vir skisofrenie by 22q11.2-mikroweglatings

Roos¹

2019

Genetiese Bevindings in ‘N Groep Afrikaners Met Skisofrenie

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“…Some of these mutations are rare and have a moderate-to-large effect. Most are related to copy number variations (CNVs) as well as other types of structural genomic variation including deletions, duplications, and chromosomal rearrangements with potentially different pathogenic mechanisms and phenotypic outcomes (Levinson et al, 2011; Merikangas et al, 2014; Ruderfer et al, 2013; Timms et al, 2013; Warnica et al, 2014). The rate of CNVs in schizophrenia patients is increased, with deletions being observed more frequently than duplications (Buizer-Voskamp et al, 2011; Szatkiewicz et al, 2014).…”

Section: Genes and Environment In Schizophreniamentioning

confidence: 99%

Animal models of gene–environment interaction in schizophrenia: A dimensional perspective

Ayhan

McFarland

Pletnikov

2016

Progress in Neurobiology

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Schizophrenia has long been considered as a disorder with multifactorial origins. Recent discoveries have advanced our understanding of the genetic architecture of the disease. However, even with the increase of identified risk variants, heritability estimates suggest an important contribution of non-genetic factors. Various environmental risk factors have been proposed to play a role in the etiopathogenesis of schizophrenia. These include season of birth, maternal infections, obstetric complications, adverse events at early childhood, and drug abuse. Despite the progress in identification of genetic and environmental risk factors, we still have a limited understanding of the mechanisms whereby gene-environment interactions (GxE) operate in schizophrenia and psychoses at large. In this review we provide a critical analysis of current animal models of GxE relevant to psychotic disorders and propose that dimensional perspective will advance our understanding of the complex mechanisms of these disorders.

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“…Another recent study in 386 Irish cases found that carriers of rare CNV deletions or combined deletions/duplications that intersected brain-expressed genes were less likely to have a family history of schizophrenia, although without parental genotypes, it was not possible to determine whether these were inherited [30]. Common genetic variation has also been assessed in a GWAS conducted separately for cases with (N= 527) and without (N=1,661) a family history of schizophrenia compared with control subjects (N=3,187), but no significant associations were revealed following correction for multiple tests [31•].…”

Section: Family Historymentioning

confidence: 99%

Genetic Modifiers and Subtypes in Schizophrenia

Bergen

2014

Curr Behav Neurosci Rep

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The vast differences observed in clinical features of schizophrenia are undoubtedly mediated in part by genetic influences. Schizophrenia has been conceptualized as either a collection of disorders with overlapping features or a singular diagnostic entity with modifying influences giving rise to the observed range of manifestations. Accordingly, attempts to connect genetic and phenotypic heterogeneity have predominantly investigated the genetic foundations for clinically defined subgroups or explored the effects of putative risk genes on observed variation in schizophrenia. Some evidence exists to support both perspectives, and they are not mutually exclusive. The past few years have witnessed revolutionary advances in the understanding of the genetic risk factors for schizophrenia. Subsequent investigations of genetic and clinical heterogeneity have begun to integrate these findings and make use of the genotyping advances, allowing genome-wide and rare variation to be studied more readily. Recent studies incorporating symptoms, family history, age at onset, severity, sex, cognition, and environmental influences as either subtypes with a genetic basis or features modified by genetic loci are reviewed herein.

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The phenotypic manifestations of rare CNVs in schizophrenia

Cited by 22 publications

References 60 publications

Vatbaarheid vir skisofrenie by 22q11.2-mikroweglatings

Vatbaarheid vir skisofrenie by 22q11.2-mikroweglatings

Animal models of gene–environment interaction in schizophrenia: A dimensional perspective

Genetic Modifiers and Subtypes in Schizophrenia

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