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A comprehensive meta-analysis of common genetic variants in autism spectrum conditions

Warrier, V., Chee, V., Smith, P., Chakrabarti, B. and Baron-Cohen, S. (2015) A comprehensive meta-analysis of common genetic variants in autism spectrum conditions. Molecular Autism, 6 (1). 49. ISSN 2040-2392

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To link to this item DOI: 10.1186/s13229-015-0041-0

Abstract/Summary

Background Autism spectrum conditions (ASC) are a group of neurodevelopmental conditions characterized by difficulties in social interaction and communication alongside repetitive and stereotyped behaviours. ASC are heritable, and common genetic variants contribute substantial phenotypic variability. More than 600 genes have been implicated in ASC to date. However, a comprehensive investigation of candidate gene association studies in ASC is lacking. Methods In this study, we systematically reviewed the literature for association studies for 552 genes associated with ASC. We identified 58 common genetic variants in 27 genes that have been investigated in three or more independent cohorts and conducted a meta-analysis for 55 of these variants. We investigated publication bias and sensitivity and performed stratified analyses for a subset of these variants. Results We identified 15 variants nominally significant for the mean effect size, 8 of which had P values below a threshold of significance of 0.01. Of these 15 variants, 11 were re-investigated for effect sizes and significance in the larger Psychiatric Genomics Consortium dataset, and none of them were significant. Effect direction for 8 of the 11 variants were concordant between both the datasets, although the correlation between the effect sizes from the two datasets was poor and non-significant. Conclusions This is the first study to comprehensively examine common variants in candidate genes for ASC through meta-analysis. While for majority of the variants, the total sample size was above 500 cases and 500 controls, the total sample size was not large enough to accurately identify common variants that contribute to the aetiology of ASC.

Item Type:Article
Refereed:Yes
Divisions:Interdisciplinary centres and themes > Centre for Integrative Neuroscience and Neurodynamics (CINN)
Interdisciplinary centres and themes > ASD (Autism Spectrum Disorders) Research Network
Faculty of Life Sciences > School of Psychology and Clinical Language Sciences > Department of Psychology
Faculty of Life Sciences > School of Psychology and Clinical Language Sciences > Neuroscience
Interdisciplinary centres and themes > Centre for Cognition Research (CCR)
Faculty of Life Sciences > School of Psychology and Clinical Language Sciences > Psychopathology and Affective Neuroscience
ID Code:52481
Publisher:BioMed Central

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