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Open AccessJournal ArticleDOI

Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia.

Sarah E. Bergen, +8 more
- 01 Jan 2019 - 
- Vol. 176, Iss: 1, pp 29-35
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TLDR
Evidence for interactive effects of PRS and previously associated CNVs for risk for schizophrenia is found, and the results for large deletions and total CNV burden support an additive model.
Abstract: 
Objective:Both rare copy number variants (CNVs) and common single-nucleotide polymorphisms (SNPs) contribute to liability to schizophrenia, but their etiological relationship has not been fully elu...

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Polygenic risk scores: from research tools to clinical instruments

Cathryn M. Lewis, +1 more
- 18 May 2020 - 
TL;DR: How polygenic risk score may be informative at different points in the disease trajectory is considered giving examples of progress in the field and discussing obstacles that need to be addressed before clinical implementation.
Journal ArticleDOI

Getting to the Cores of Autism

Lilia M. Iakoucheva, +2 more
- 05 Sep 2019 - 
TL;DR: It is emphasized the importance of first defining subtypes of ASD on the basis of the phenotypic signatures of genes in model systems and humans to help elucidate the core underlying neuropathologies.

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

Christian R. Marshall, +262 more
TL;DR: A centralized analysis pipeline was applied to a SCZ cohort of 21,094 cases and 20,227 controls and Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.
Journal ArticleDOI

Insufficient Evidence for “Autism-Specific” Genes

Scott M. Myers, +12 more
- 07 May 2020 - 
TL;DR: It is argued that there is currently insufficient evidence to establish meaningful ASD specificity of any genes based on large-effect rare-variant data.
Journal ArticleDOI

De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia

Elliott Rees, +24 more
- 13 Jan 2020 - 
TL;DR: It is shown that de novo mutations in the gene SLC6A1, and more broadly across evolutionary constrained genes and genes implicated in neurodevelopmental disorders, increase the risk for developing schizophrenia.
References
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Journal ArticleDOI

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Shaun Purcell, +17 more
- 01 Sep 2007 - 
TL;DR: This work introduces PLINK, an open-source C/C++ WGAS tool set, and describes the five main domains of function: data management, summary statistics, population stratification, association analysis, and identity-by-descent estimation, which focuses on the estimation and use of identity- by-state and identity/descent information in the context of population-based whole-genome studies.
Journal ArticleDOI

Biological insights from 108 schizophrenia-associated genetic loci

Stephan Ripke, +354 more
- 24 Jul 2014 - 
TL;DR: Associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses.
Journal ArticleDOI

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

Shaun Purcell, +81 more
- 06 Aug 2009 - 
TL;DR: The extent to which common genetic variation underlies the risk of schizophrenia is shown, using two analytic approaches, and the major histocompatibility complex is implicate, which is shown to involve thousands of common alleles of very small effect.
Journal ArticleDOI

Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies.

Patrick F. Sullivan, +2 more
- 01 Dec 2003 - 
TL;DR: Despite evidence of heterogeneity across studies, meta-analytic results from 12 published twin studies of schizophrenia are consistent with a view of schizophrenia as a complex trait that results from genetic and environmental etiological influences.
Journal ArticleDOI

Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study.

Paul Lichtenstein, +8 more
- 17 Jan 2009 - 
TL;DR: Evidence is shown that schizophrenia and bipolar disorder partly share a common genetic cause, which is consistent with a reappraisal of these disorders as distinct diagnostic entities.
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