Genetic biomarkers predict susceptibility to autism spectrum disorder through interactive models of inheritance in a Saudi community

Elhawary, Nasser A.; Tayeb, Mohammed T.; Sindi, Ikhlas A.; Qutub, Nermeen; Rashad, Mona M.; Mufti, Ahmad H.; Arab, Arwa; Khogeer, Asim; Elhawary, Ezzeldin N.; Dannoun, Anas; Bogari, Neda M.

doi:10.1080/23312025.2019.1606555

Cited by 11 publications

(7 citation statements)

References 71 publications

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“…The released DNA was obtained by precipitating with ethanol and then dissolved in elution buffer. 36…”

Section: Dna Isolationmentioning

confidence: 99%

<p>Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community</p>

Arab¹,

Elhawary²

2019

NDT

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Purpose: Several interacting genes or single nucleotide polymorphisms (SNPs) are vulnerable to the risk of autism spectrum disorder (ASD). Here we explored associations between SNPs in the methylenetetrahydrofolate reductase (MTHFR) gene or combined genotypes and the risk of ASD in a Saudi community. Subjects and methods: ASD severity symptoms were assessed according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) criteria and scores on the childhood autism rating scale (CARS). Genomic DNA from buccal cells was analyzed for 112 cases and 104 healthy controls using TaqMan genotyping assays of 677C>T rs1801133 and 1298A>C rs1801131 SNPs in the MTHFR gene. SNPStats software was utilized to determine the best interactive model of inheritance of genotypic data. Results: Controls were consistent with Hardy-Weinberg equilibrium in the examined SNPs. Our data showed associations between the 677C>T and 1298A>C SNPs and ASD risk (odds ratio [OR]= 5.2; 95% confidence interval [CI], 3.1-9.8 and OR= 22.2; 95% CI, 7.9-62.3, respectively). Genotype associations of 677C>T and 1298A>C were identified in cases compared with controls (P= 0.0012 and P= 0.0008, respectively). The examined SNPs were significantly associated with ASD cases having ≥37 scores (codominant and recessive models; P= 0.001 and P= 0.0005, respectively). Six combined genotypes-C/C-A/A

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“…The released DNA was obtained by precipitating with ethanol and then dissolved in elution buffer. 36…”

Section: Dna Isolationmentioning

confidence: 99%

<p>Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community</p>

Arab¹,

Elhawary²

2019

NDT

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“…Meanwhile, Elhawary et al. [ 88 ], found that heterozygosity contributed to the etiology of ASD for rs3813034 and rs6318SNPs (89%, p = 0.005 and 56%, p = 0.03, respectively). They indicated also that rs7997012 and rs6265A variant alleles were significantly associated with ASD ( p = 0.005 and p = 0.003, respectively).…”

Section: Epigenetics Of Autism Spectrum Disordermentioning

confidence: 99%

Gut microbiota metabolites in autistic children: An epigenetic perspective

Sabit

Tombuloğlu

Rehman

et al. 2021

Heliyon

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Gut microbiota has become an issue of great importance recently due to its major role in autism spectrum disorder (ASD). Over the past three decades, there has been a sustained research activity focused to explain the actual mechanism by which gut microbiota triggers/develops autism. Several genetic and epigenetic factors are involved in this disorder, with epigenetics being the most active area of research. Although the constant investigation and advancements, epigenetic implications in ASD still need a deeper functional/causal analysis. In this review, we describe the major gut microbiota metabolites and how they induce epigenetic changes in ASD along with interactions through the gut-brain axis.

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“…The HTR2C rs6318 and BDNF rs6265 SNPs were significantly correlated with severe cases. There were significant associations between HTR2A rs7997012 and rs6265A variants of BDNF and ASD [ 19 ]. Coiled-coil and C2 domain containing 1A (CC2D1A) regulates 5-hydroxytryptamine receptor 1A (HTR1A) expression in neuronal cells via binding to 14-bp 5′-repressor element upstream of the promoter of HTR1A [ 63 ].…”

Section: Receptors and Neurotransmittersmentioning

confidence: 99%

“… Noroozi et al [ 18 ] 2016 GRM7 Iran 518 patients 472 controls Polymorphisms were correlated with the risk of ASD. Elhawary et al [ 19 ] 2019 HTR2A HTR2C SLC6A4 BDNF Saudi Arabia 110 patients 102 controls Polymorphisms were correlated with sex in ASD. HTR2C and BDNF polymorphisms were correlated with severity.…”

Section: Introductionmentioning

confidence: 99%

Genetic and molecular biology of autism spectrum disorder among Middle East population: a review

et al. 2021

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Background Autism spectrum disorder (ASD) is a neurodevelopmental disease, characterized by impaired social communication, executive dysfunction, and abnormal perceptual processing. It is more frequent among males. All of these clinical manifestations are associated with atypical neural development. Various genetic and environmental risk factors are involved in the etiology of autism. Genetic assessment is essential for the early detection and intervention which can improve social communications and reduce abnormal behaviors. Although, there is a noticeable ASD incidence in Middle East countries, there is still a lack of knowledge about the genetic and molecular biology of ASD among this population to introduce efficient diagnostic and prognostic methods. Main body In the present review, we have summarized all of the genes which have been associated with ASD progression among Middle East population. We have also categorized the reported genes based on their cell and molecular functions. Conclusions This review clarifies the genetic and molecular biology of ASD among Middle East population and paves the way of introducing an efficient population based panel of genetic markers for the early detection and management of ASD in Middle East countries.

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Genetic biomarkers predict susceptibility to autism spectrum disorder through interactive models of inheritance in a Saudi community

Cited by 11 publications

References 71 publications

<p>Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community</p>

<p>Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community</p>

Gut microbiota metabolites in autistic children: An epigenetic perspective

Genetic and molecular biology of autism spectrum disorder among Middle East population: a review

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