MTHFR 1298A&gt;C is a risk factor for autism spectrum disorder in the Korean population

Park, JungWon; Ro, MyungJa; Pyun, Jung-A; Nam, Min; Bang, Hee Jung; Yang, Jae Won; Choi, Kyung-Sik; Kim, Su Kang; Chung, Joo‐Ho; Kwack, KyuBum

doi:10.1016/j.psychres.2013.11.006

Cited by 22 publications

(16 citation statements)

References 5 publications

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“…Of six studies in the literature, four showed significant associations between the allelic variants and genotypic distributions of the 1298A>C rs1801131 SNP and ASD. 20,40,41,44 The other two studies showed no associations between this SNP and ASD 17,18 (Table 8). James et al 42 reported that several genes were linked to folate/homocysteine pathways in ASD cases but did not report any significant associations with MTHFR 677C>T and MTHFR 1298A>C when these SNPs were assessed separately.…”

Section: Discussionmentioning

confidence: 90%

<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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Section: Discussionmentioning

confidence: 90%

<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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“…For Park et al MTHFR 677CT and 1298AC polymorphisms were tested in Korean population. 677CT/1298AC was significantly associated with 2.11-fold increased risk of ASD compared with the combination of 677CC/1298AA genotypes [28]. A meta-analysis was performed by Pu et al in 2013.…”

Section: Discussionmentioning

confidence: 99%

MTHFR Gene C677T Polymorphism in Autism Spectrum Disorders

Şener

Öztop

Özkul

2014

Genetics Research International

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Aim. Autism is a subgroup of autism spectrum disorders, classified as a heterogeneous neurodevelopmental disorder and symptoms occur in the first three years of life. The etiology of autism is largely unknown, but it has been accepted that genetic and environmental factors may both be responsible for the disease. Recent studies have revealed that the genes involved in the folate/homocysteine pathway may be risk factors for autistic children. In particular, C677T polymorphism in the MTHFR gene as a possible risk factor for autism is still controversial. We aimed to investigate the possible effect of C677T polymorphism in a Turkish cohort. Methods. Autism patients were diagnosed by child psychiatrists according to DSM-IV and DSM-V criteria. A total of 98 children diagnosed as autistic and 70 age and sex-matched children who are nonautistic were tested for C677T polymorphism. This polymorphism was studied by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods. Results. MTHFR 677T-allele frequency was found to be higher in autistic children compared with nonautistic children (29% versus 24%), but it was not found statistically significant. Conclusions. We conclude that other MTHFR polymorphisms such as A1298C or other folate/homocysteine pathway genes may be studied to show their possible role in autism.

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“…Very recently was shown, that Hcy and Hcy-TL enhance the interaction between fibrinogen and amyloid β, promote the formation of tighter fibrin clots and delay clot fibrinolysis [83]. It has been also reported that dysfunctional folate-methionine pathway enzymes, mostly MTHFR polymorphisms C677T and A1298C, may play an important role in the pathophysiology of autism (MIM 209850) [84,85]. Rai [86] in his meta-analysis has compared results from 13 case control studies focused on autism and MTHFR C677T polymorphism.…”

Section: Hyperhomocysteinemia and Diseasesmentioning

confidence: 99%

The Molecular and Cellular Effect of Homocysteine Metabolism Imbalance on Human Health

Škovierová

Vidomanová

Mahmood

et al. 2016

IJMS

346

238

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Homocysteine (Hcy) is a sulfur-containing non-proteinogenic amino acid derived in methionine metabolism. The increased level of Hcy in plasma, hyperhomocysteinemia, is considered to be an independent risk factor for cardio and cerebrovascular diseases. However, it is still not clear if Hcy is a marker or a causative agent of diseases. More and more research data suggest that Hcy is an important indicator for overall health status. This review represents the current understanding of molecular mechanism of Hcy metabolism and its link to hyperhomocysteinemia-related pathologies in humans. The aberrant Hcy metabolism could lead to the redox imbalance and oxidative stress resulting in elevated protein, nucleic acid and carbohydrate oxidation and lipoperoxidation, products known to be involved in cytotoxicity. Additionally, we examine the role of Hcy in thiolation of proteins, which results in their molecular and functional modifications. We also highlight the relationship between the imbalance in Hcy metabolism and pathogenesis of diseases, such as cardiovascular diseases, neurological and psychiatric disorders, chronic kidney disease, bone tissue damages, gastrointestinal disorders, cancer, and congenital defects.

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MTHFR 1298A>C is a risk factor for autism spectrum disorder in the Korean population

Cited by 22 publications

References 5 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>

MTHFR Gene C677T Polymorphism in Autism Spectrum Disorders

The Molecular and Cellular Effect of Homocysteine Metabolism Imbalance on Human Health

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