Methylenetetrahydrofolate Reductase and Angiotensin-Converting Enzyme Gene Polymorphisms Among Saudi Population from Qassim Region

Algasham, Abdullah; Ismail, Hisham; Dewaidar, Moataz; Settin, Ahmad

doi:10.1089/gtmb.2009.0019

Cited by 17 publications

(17 citation statements)

References 31 publications

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“…It is the rate‐limiting enzyme in the methyl cycle, which catalyzes the change of 5,10 methylenetetrahydrofolate to 5‐methyltetrahydrofolate, a co‐substrate for homocysteine remethylation to methionine. DNA methylation is in charge for a diversity of functions, for example, tissue‐specific gene expression, chromatin structure, imprinted gene experssion (Algasham, Ismail, Dewaidar, & Settin, ).…”

Section: Introductionmentioning

confidence: 99%

Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children

Ismail

Senna

Behiry

et al. 2019

American J of Med Genetics Pt B

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Background: Autism spectrum disorders (ASD) is a heterogeneous neurodevelopmental disease, various articles reported that dysfunctional folate-methionine pathway enzymes might assume a paramount part in the pathophysiology of autism. Methylene tetrahydrofolate reductase (MTHFR) is a basic catalyst for this pathway, also MTHFR gene C677T variant accounted as a risk factor of autism.Objective: The present study aimed to investigate the association of MTHFR gene rs1801133(C677T) variant among Egyptian autistic children. Methods: The study included 78 autistic children, and 80 matched healthy control children. Full clinical and radiological examinations were conducted. MTHFR genetic variant, rs1801133(C677T) was studied by using polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) methods followed by direct sequencing technique. Results: MTHFR (C677T) allele frequency was found to be higher significantly in ASD cases compared with nonautistic children. Also, we had a higher distribution of combined CT + TT genotypes among autistic patients with consanguinity and family history of psychological disease. In Gastrointestinal tract (GIT) and sleep disorders showed a higher distribution of hetero CT genotype as well as combined CT + TT genotypes. Conclusion: This study demonstrated a role of MTHFR gene (C667T) variant with the increased risk for ASD. K E Y W O R D S autism, MTHFR, variant, C667T

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Section: Introductionmentioning

confidence: 99%

Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children

Ismail

Senna

Behiry

et al. 2019

American J of Med Genetics Pt B

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show abstract

“…The methylenetetrahydrofolate reductase (MTHFR), which is encoded by the MTHFR gene, is a critical enzyme that regulates the metabolism of folate and methionine, both of which are important factors in DNA methylation and nucleotide synthesis [Algasham, Ismail, Dewaidar, & Settin, ]. DNA methylation is responsible for a variety of functions, such as tissue‐specific gene expression, chromatin structure, and imprinted gene expression.…”

Section: Introductionmentioning

confidence: 99%

Association between MTHFR Gene Polymorphisms and the Risk of Autism Spectrum Disorders: A Meta‐Analysis

Shen

2013

Autism Research

103

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Methylenetetrahydrofolate reductase (MTHFR) is essential for DNA biosynthesis and the epigenetic process of DNA methylation, and its gene polymorphisms have been implicated as risk factors for birth defects, neurological disorders, and cancers. However, reports on the association of MTHFR polymorphisms with autism spectrum disorders (ASD) are inconclusive. Therefore, we investigated the relationship of the MTHFR polymorphisms (C677T and A1298C) and the risk of ASD by meta-analysis. Up to December 2012, eight case-control studies involving 1672 patients with ASD and 6760 controls were included for meta-analysis. The results showed that the C677T polymorphism was associated with significantly increased ASD risk in all the comparison models [T vs. C allele (frequency of allele): odds ratio (OR) = 1.42, 95% confidence interval (CI): 1.09-1.85; CT vs. CC (heterozygote): OR = 1.48, 95% CI: 1.09-2.00; TT vs. CC (homozygote): OR = 1.86, 95% CI: 1.08-3.20; CT+TT vs. CC (dominant model): OR = 1.56, 95% CI: 1.12-2.18; and TT vs. CC+CT (recessive model): OR = 1.51, 95% CI: 1.02-2.22], whereas the A1298C polymorphism was found to be significantly associated with reduced ASD risk but only in a recessive model (CC vs. AA+AC: OR = 0.73, 95% CI: 0.56-0.97). In addition, we stratified the patient population based on whether they were from a country with food fortification of folic acid or not. The meta-analysis showed that the C677T polymorphism was found to be associated with ASD only in children from countries without food fortification. Our study indicated that the MTHFR C677T polymorphism contributes to increased ASD risk, and periconceptional folic acid may reduce ASD risk in those with MTHFR 677C>T polymorphism.

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“…The methylenetetrahydrofolate reductase (MTHFR) gene, located on chromosome 1 (1p36.3), encodes the MTHFR enzyme, which plays an important role in folate metabolism (Algasham et al, 2009). The MTHFR C677T polymorphism converts an alanine residue to a valine (ALA222VAL), leading to a lower enzymatic activity Mansoor et al, 2009).…”

Section: Introductionmentioning

confidence: 99%

Methylenetetrahydrofolate Reductase Polymorphisms C677T and Risk of Autism in the Chinese Han Population

Guo

Chen²,

Liu³

et al. 2012

Genetic Testing and Molecular Biomarkers

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Causes of autism are still unknown. Some studies have shown that autism might be associated with metabolic abnormalities in the folate/homocysteine pathway, which is involved in DNA methylation, thus altering gene expression. The association between the methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphisms and the risk of autism is still controversial and ambiguous. The purpose of this study was to examine the effect of the MTHFR C677T polymorphism on the autism risk in the Chinese Han population. A population-based case-control study was conducted in 186 children with autism and 186 controls. The MTHFR C677T polymorphisms were determined by using a polymerase chain reaction-restriction fragment length polymorphism assay. The frequency of genotype MTHFR 677TT in children with autism (16.1%) was significantly higher (odds ratio [OR]=2.04; 95% confidence interval [CI]=1.07, 3.89; p=0.03] than those in controls (8.6%). When stratifying by select-item scores on the Autism Diagnostic Interview-Revised, it was found that children with current overactivity had a significantly higher frequency of the MTHFR 677TT genotype (OR=2.77, 95% CI=1.17, 6.60; p=0.02) than those without. This study suggested that MTHFR C677T is a risk factor of autism in Chinese Han children.

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Methylenetetrahydrofolate Reductase and Angiotensin-Converting Enzyme Gene Polymorphisms Among Saudi Population from Qassim Region

Cited by 17 publications

References 31 publications

Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children

Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children

Association between MTHFR Gene Polymorphisms and the Risk of Autism Spectrum Disorders: A Meta‐Analysis

Methylenetetrahydrofolate Reductase Polymorphisms C677T and Risk of Autism in the Chinese Han Population

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