Journal ArticleDOI
Genetic risk factors for autism-spectrum disorders: a systematic review based on systematic reviews and meta-analysis.
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TLDR
In this article, a comprehensive literature search identified 31 meta-analyses and ten systematic reviews of evidence related to autism occurrence, which included a meta-analysis and systematic review that assessed the impact of related gene variants on the development of autism.Abstract:
Based on recent evidence, more than 200 susceptibility genes have been identified to be associated with autism until now. Correspondingly, cytogenetic abnormalities have been reported for almost every chromosome. While the results of multiple genes associated with risk factors for autism are still incomplete, this paper systematically reviews published meta-analyses and systematic reviews of evidence related to autism occurrence. Literature search was conducted in the PubMed system, and the publication dates were limited between January 2000 and July 2020. We included a meta-analysis and systematic review that assessed the impact of related gene variants on the development of autism. After screening, this comprehensive literature search identified 31 meta-analyses and ten systematic reviews. We arranged the genes related to autism in the published studies according to the order of the chromosomes, and based on the results of a meta-analysis and systematic review, we selected 6 candidate genes related to ASD, namely MTHFR C677T, SLC25A12, OXTR, RELN, 5-HTTLPR, SHANK, including basic features and functions. In addition to these typical genes, we have also listed candidate genes that may exist on almost every chromosome that are related to autism. We found that the results of several literature reviews included in this study showed that the MTHFR C667T variant was a risk factor for the occurrence of ASD, and the results were consistent. The results of studies on SLC25A12 variation (rs2056202 and rs2292813) and ASD risk were inconsistent but statistically significant. No association of 5-HTTLPR was found with autism, but when subgroup analysis was performed according to ethnicity, the association was statistically significant. RELN variants (rs362691 and rs736707) were consistent with ASD risk studies, but some of the results were not statistically significant. This review summarized the well-known ASD candidate genes and listed some new genes that need further study in larger sample sets to improve our understanding of the genetic basis of ASD, but sample size and heterogeneity remain major limiting factors in some genome-wide association studies. We also found that common genetic variants in some genes may be co-risk factors for autism or other neuropsychiatric disorders when we collated these results. It is worth considering screening for these mutations in clinical applications.read more
Citations
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Molecular Dysregulation in Autism Spectrum Disorder
Pritmohinder S. Gill,Jeffery L Clothier,Aravindhan Veerapandiyan,Harsh Dweep,Patricia Porter-Gill,G. Bradley Schaefer,G. Bradley Schaefer +6 more
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Beyond monoamines: I. Novel targets and radiotracers for Positron emission tomography imaging in psychiatric disorders
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Cows’ Milk Allergy-Associated Constipation: When to Look for It? A Narrative Review
Frances L. Connor,Silvia Salvatore,Enza D'Auria,Maria Elisabetta Baldassarre,Miriam Acunzo,Gaia Di Bella,Ilaria Farella,Simona Sestito,Licia Pensabene +8 more
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Molecular genetic associations between a prominent serotonin transporter gene polymorphism (5‐HTTLPR/rs25531) and individual differences in tendencies toward autistic traits and generalized internet use disorder in China and Germany
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References
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Journal ArticleDOI
Global Prevalence of Autism and Other Pervasive Developmental Disorders
Mayada Elsabbagh,Gauri Divan,Yun Joo Koh,Young Shin Kim,Shuaib Kauchali,Shuaib Kauchali,Carlos Marcin,Cecilia Montiel-Nava,Vikram Patel,Cristiane Silvestre de Paula,Chongying Wang,M. T. Yasamy,Eric Fombonne +12 more
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Journal ArticleDOI
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
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Journal ArticleDOI
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Stephen Sanders,Michael T. Murtha,Abha R. Gupta,John D. Murdoch,Melanie J. Raubeson,A. Jeremy Willsey,A. Gulhan Ercan-Sencicek,Nicholas M. DiLullo,Neelroop N. Parikshak,Jason L. Stein,Michael F. Walker,Gordon T. Ober,Nicole A. Teran,Youeun Song,Paul El-Fishawy,Ryan C. Murtha,Murim Choi,John D. Overton,Robert D. Bjornson,Nicholas Carriero,Kyle A. Meyer,Kaya Bilguvar,Shrikant Mane,Nenad Sestan,Richard P. Lifton,Murat Gunel,Kathryn Roeder,Daniel H. Geschwind,Bernie Devlin,Matthew W. State +29 more
TL;DR: It is shown, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects.
Journal ArticleDOI
Epidemiology of pervasive developmental disorders.
TL;DR: There is evidence that the broadening of the concept, the expansion of diagnostic criteria, the development of services, and improved awareness of the condition have played a major role in explaining this increase, although it cannot be ruled out that other factors might have also contributed to that trend.
Journal ArticleDOI
Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism
Joachim Hallmayer,Sue C. Cleveland,Andrea Torres,Jennifer M. Phillips,Brianne Cohen,Tiffany Torigoe,Janet Miller,Angie Fedele,Jack Collins,Karen S. Smith,Linda Lotspeich,Lisa A. Croen,Sally J Ozonoff,Clara Lajonchere,Judith K. Grether,Neil Risch,Neil Risch +16 more
TL;DR: Susceptibility to ASD has moderate genetic heritability and a substantial shared twin environmental component.
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