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

Molecular Autism
Varun WarrierSimon Baron-Cohen

Abstract

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. 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. 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, al...Continue Reading

References

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Citations

Sep 22, 2016·Autism Research : Official Journal of the International Society for Autism Research·Gail A AlvaresAndrew J O Whitehouse
Oct 14, 2017·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Christian MontagKeith M Kendrick
Oct 9, 2018·Journal of Paediatrics and Child Health·Alexandra UreKatrina Williams
Oct 23, 2016·Cellular and Molecular Life Sciences : CMLS·Akira GokoolparsadhIrina Voineagu
May 5, 2018·Journal of Molecular Neuroscience : MN·Manijeh MahdaviMaryam Mirsafaie
Oct 4, 2020·Brain Sciences·Jinhee LeePaolo Fusar-Poli
Mar 29, 2019·Molecular Autism·Florina UzefovskySimon Baron-Cohen
Jun 3, 2018·Journal of Molecular Neuroscience : MN·Lucas de Oliveira Pereira RibeiroJaqueline Bohrer Schuch
Jun 13, 2018·Journal of Neurodevelopmental Disorders·Marc Woodbury-SmithPeter Szatmari
Sep 25, 2017·Psychiatry and Clinical Neurosciences·Mary M Y Waye, Ho Yu Cheng
Aug 14, 2020·Journal of Clinical Medicine·Antonio Ji-Xu, Angela Vincent
Feb 27, 2021·Psychological Medicine·A HavdahlV Warrier

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Methods Mentioned

BETA
genotyping

Software Mentioned

Comprehensive Meta - Analysis
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