Abstract

This study aimed to verify noteworthy findings between genetic risk factors and autism spectrum disorder (ASD) by employing the false positive report probability (FPRP) and the Bayesian false-discovery probability (BFDP). PubMed and the Genome-Wide Association Studies (GWAS) catalog were searched from inception to 1 August, 2019. We included meta-analyses on genetic factors of ASD of any study design. Overall, twenty-seven meta-analyses articles from literature searches, and four manually added articles from the GWAS catalog were re-analyzed. This showed that five of 31 comparisons for meta-analyses of observational studies, 40 out of 203 comparisons for the GWAS meta-analyses, and 18 out of 20 comparisons for the GWAS catalog, respectively, had noteworthy estimations under both Bayesian approaches. In this study, we found noteworthy genetic comparisons highly related to an increased risk of ASD. Multiple genetic comparisons were shown to be associated with ASD risk; however, genuine associations should be carefully verified and understood.

Highlights

  • Autism spectrum disorder (ASD) is a brain-based neurodevelopmental disorder characterized by pervasive impairments in reciprocal social communication, social interaction, and restricted and repetitive behaviors or interests, resulting in a substantial burden of individuals, families, and society [1,2]

  • Four articles from the Genome-Wide Association Studies (GWAS) catalog were manually added to 27 articles previously screened from PubMed, leading to a total of 31 eligible articles [17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47] being included in the systematic review (Figure 1)

  • We attempted to synthesize all meta-analyses on genetic polymorphisms linked to autism spectrum disorder (ASD) and found noteworthy genetic factors highly related to an increased risk of ASD

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Summary

Introduction

Autism spectrum disorder (ASD) is a brain-based neurodevelopmental disorder characterized by pervasive impairments in reciprocal social communication, social interaction, and restricted and repetitive behaviors or interests, resulting in a substantial burden of individuals, families, and society [1,2]. The repeated reports of recent increase in the prevalence of ASD have raised substantial public concerns. In large, nationwide population-based studies, the estimated ASD prevalence was reported to be 2.47% among U.S children and adolescents in 2014–2016 [3,4,5]. It is possible to estimate the heritability of ASD by taking into the account its covariance within twins, as twins are matched for many characteristics, including in utero and family environment, as well as other developmental aspects [7,9,10]

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