Catechol-O-methyltransferase Val158Met polymorphism and hyperactivity symptoms in Egyptian children with autism spectrum disorder

Karam, Rehab A.; Rezk, Noha A.; Abdelrahman, Hadeel M.; Hassan, Tamer; Mohammad, Doaa; Hashim, Haitham M.; Fattah, Nelly R. Abdel

doi:10.1016/j.ridd.2013.04.002

Cited by 13 publications

(7 citation statements)

References 34 publications

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“…A total of 5 and 23 articles assessing rs4680 (COMT) and 5-HTTLPR (SLC6A4) variants, respectively, were identified. For rs4680, reports included 3 with case-control design [Guo et al, 2013;James et al, 2006;Karam et al, 2013], 1 with TDT design [Yoo et al, 2013] and 1 with both TDT and case-control design [Limprasert et al, 2014]. While collecting information about allelic polymorphisms in SLC6A4, 1 study showed a set of strange data with zero as the number of S alleles in the control group [Meguid et al, 2015].…”

Section: Statistics Analysismentioning

confidence: 99%

“…James et al initially reported an association of COMT val158met variant with ASD, and Guo et al verified these results in Chinese individuals [Guo, Wang, Liu, Chen, & Yang, 2013;James et al, 2006]. Subsequent researches could not replicate these findings [Karam et al, 2013;Limprasert et al, 2014;Yoo, Cho, Park, Yang, & Kim, 2013]. Based on the aforementioned opinions, COMT, although considered a key gene in HPA axis regulation, has not been shown to overtly contribute to ASD as a single entity.…”

Section: Introductionmentioning

confidence: 99%

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Associations of endocrine stress‐related gene polymorphisms with risk of autism spectrum disorders: Evidence from an integrated meta‐analysis

Yang

Menga

et al. 2017

Autism Research

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Our results showed no evidence of significant association of either COMT rs4680 or 5-HTT 5-HTTLPR variants with ASD, showing that these two genes may not be major susceptible genetic factors in ASD occurrence, and may have a reciprocal action with each other in combination with environmental factors. These findings further provide evidence that a single gene variant may not dictate autism occurrence, but possibly contributes to a specific phenotype or subtype of ASD.

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Section: Statistics Analysismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Associations of endocrine stress‐related gene polymorphisms with risk of autism spectrum disorders: Evidence from an integrated meta‐analysis

Yang

Menga

et al. 2017

Autism Research

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“… 14 In humans, genetic studies in patients with ASD have revealed the polymorphisms in CYP1A2 * 1F and its association with susceptibility to ASD, 15 and another polymorphism contributing to ASD is COMT Val58Met. 16 …”

Section: Introductionmentioning

confidence: 99%

Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder

Medhasi¹,

Pasomsub²,

Vanwong³

et al. 2016

NDT

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Single-nucleotide polymorphisms (SNPs) among drug-metabolizing enzymes and transporters (DMETs) influence the pharmacokinetic profile of drugs and exhibit intra- and interethnic variations in drug response in terms of efficacy and safety profile. The main objective of this study was to assess the frequency of allelic variants of drug absorption, distribution, metabolism, and elimination-related genes in Thai children and adolescents with autism spectrum disorder. Blood samples were drawn from 119 patients, and DNA was extracted. Genotyping was performed using the DMET Plus microarray platform. The allele frequencies of the DMET markers were generated using the DMET Console software. Thereafter, the genetic variations of significant DMET genes were assessed. The frequencies of SNPs across the genes coding for DMETs were determined. After filtering the SNPs, 489 of the 1,931 SNPs passed quality control. Many clinically relevant SNPs, including CYP2C19*2, CYP2D6*10, CYP3A5*3, and SLCO1B1*5, were found to have frequencies similar to those in the Chinese population. These data are important for further research to investigate the interpatient variability in pharmacokinetics and pharmacodynamics of drugs in clinical practice.

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“…Polymorphism of a major DA catabolic enzyme (catechol-O-methyltransferase (COMT) have also been found in several ASD populations [135][136][137].…”

Section: Dopaminementioning

confidence: 99%

Developmental vitamin D deficiency and autism: Putative pathogenic mechanisms

Ali

Cui

Eyles

2018

The Journal of Steroid Biochemistry and Molecular Biology

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Autism is a neurodevelopmental disease that presents in early life. Despite a considerable amount of studies, the neurobiological mechanisms underlying autism remain obscure. Both genetic and environmental factors are involved in the development of autism. Vitamin D deficiency is emerging as a consistently reported risk factor in children. One reason for the prominence now being given to this risk factor is that it would appear to interact with several other epidemiological risk factors for autism. Vitamin D is an active neurosteroid and plays crucial neuroprotective roles in the developing brain. It has important roles in cell proliferation and differentiation, immunomodulation, regulation of neurotransmission and steroidogenesis. Animal studies have suggested that transient prenatal vitamin D deficiency is associated with altered brain development. Here we review the potential neurobiological mechanisms linking prenatal vitamin D deficiency and autism and also discuss what future research targets must now be addressed.

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Catechol-O-methyltransferase Val158Met polymorphism and hyperactivity symptoms in Egyptian children with autism spectrum disorder

Cited by 13 publications

References 34 publications

Associations of endocrine stress‐related gene polymorphisms with risk of autism spectrum disorders: Evidence from an integrated meta‐analysis

Associations of endocrine stress‐related gene polymorphisms with risk of autism spectrum disorders: Evidence from an integrated meta‐analysis

Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder

Developmental vitamin D deficiency and autism: Putative pathogenic mechanisms

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