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

Guo, Tianyou; Chen, Hong; Liu, Bing; Ji, Weidong; Yang, Chuang

doi:10.1089/gtmb.2012.0091

Cited by 62 publications

(50 citation statements)

References 36 publications

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“…According to this finding, Guo et al suggested that MTHFR C677T is a risk factor for autistic patients in their population [26]. One hundred and sixty-eight children with a confirmed diagnosis of autism or PDD were investigated by Boris et al in 2004.…”

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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Section: Discussionmentioning

confidence: 99%

MTHFR Gene C677T Polymorphism in Autism Spectrum Disorders

Şener

Öztop

Özkul

2014

Genetics Research International

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“…The homozygous (TT) individuals are reported to have an approximately 50% decrease in MTHFR thermo labile enzyme activity, and the heterozygous (CT) a 30% decrease in enzyme activity as measured in their lymphocytes. The homozygosity of 677T allele of the MTHFR gene is more prevalent in the typical autism group [11,40,41]. MTHFR C677T polymorphism contributes to increased ASD risk, and periconceptional folic acid may reduce ASD risk in those with MTHFR 677C>T polymorphism [42].…”

Section: Discussionmentioning

confidence: 99%

Study of genotype–phenotype correlation of methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms in a sample of Egyptian autistic children

Shawky

El-Baz

Kamal

et al. 2014

Egyptian Journal of Medical Human Genetics

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Background: Classical autism belongs to a group of heterogeneous neurobehavioral disorders known as autism spectrum disorders (ASDs) characterized by abnormalities in social interaction, impaired communication, and repetitive stereotypic behaviors. Overall, there is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. This study aimed at identification of the C677T polymorphic genotypes of MTHFR gene among the Egyptian children with autism and to correlate them with different phenotypes.Subjects and methods: This case-control study included 20 children with autism (4.57 ± 1.36 years) (13 males and 7 females) and a normal control group. Assessments by DSM-IV-TR criteria, Stanford-Binet intelligence scale and childhood autism rating scale (CARS) were done. Assay for MTHFR gene mutation C677T was performed on amplified DNA by PCR and subsequent reverse hybridization to immobilized allele-specific biotinylated oligonucleotides probes.Results: The relation between low birth weight and occurrence of autism is highly significant (P < 0.01). The delayed motor and social milestones showed a statistically highly significant difference in cases of autism compared to controls (P < 0.01); 50% of autistic patients were heterozygous (CT) for the MTHFR gene, and 15% were homozygotes for the mutant genotype (TT). For the homozygous wild type genotype, 35% of patients were CC (P < 0.05). The segregation of T allele in the homozygous 677TT genotype occurred in 30% of autistic children. Frequency of the T-allele in autistic children is 0.4 compared to an allele frequency of 0.3 among controls (P < 0.01). According to the CARS classification, 70% were severely affected of whom 42.8% were carrying the CT

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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

335

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

Cited by 62 publications

References 36 publications

MTHFR Gene C677T Polymorphism in Autism Spectrum Disorders

MTHFR Gene C677T Polymorphism in Autism Spectrum Disorders

Study of genotype–phenotype correlation of methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms in a sample of Egyptian autistic children

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

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