MTHFR rs1801133 Gene Polymorphism and Autism Susceptibility

Delshadpour, Mahsa; Mashayekhi, Farhad; Bidabadi, Elham; Shahangian, S. Shirin; Salehi, Zivar

doi:10.18869/acadpub.cjns.3.8.39

Cited by 5 publications

(3 citation statements)

References 31 publications

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“…The association of many genes including SHANK3 , methionine synthase (rs1805087), Contactin associated-like 2 ( CNTNAP2 ), Neuropilin-2, MTHFR , and 5-HTTLPR gene polymorphism has been demonstrated (Zare, Mashayekhi, & Bidabadi, 2017; Hosseinpour, Mashayekhi, Bidabadi, & Salehi, 2017; Delshadpour, Mashayekhi, Bidabadi, Shahangian, & Salehi, 2017; Haghiri, Mashayekhi, Bidabadi, & Salehi, 2016; Laplante et al, 2019). MMP-9 known as gelatinase B plays an important role in the plasticity and development of the nervous system and is expressed in both the peripheral nervous system and CNS.…”

Section: Discussionmentioning

confidence: 99%

How matrix metalloproteinase (MMP)-9 (rs3918242) polymorphism affects MMP-9 serum concentration and associates with autism spectrum disorders: A case-control study in Iranian population

2021

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The aim of this project was to evaluate the relationship of matrix metalloproteinase-9 (MMP-9) genetic variation and its serum concentration with autism spectrum disorder (ASD). One hundred ASD and 120 controls were enrolled in this study. Genomic DNA was extracted from blood and MMP-9 polymorphism was determined by polymerase chain reaction restriction fragment length polymorphism and serum levels were measured by enzyme-linked immunosorbent assay. The frequencies of CC, CT, and TT genotypes were 72%, 26%, and 2% in controls and 31%, 57%, and 12% in ASD, respectively. The frequencies of C and T alleles in ASD were 59.5% and 40.5%, and controls were 86% and 14%, respectively. There is a significant increase in serum MMP-9 levels in ASD as compared to controls. We have also shown that TT genotype is significantly associated with increase serum MMP-9 levels in patients (TT, CT, and CC serum levels were 91.77 ± 10.53, 70.66 ± 7.21, and 38.66 ± 5.52 and in controls were 55.55 ± 11.39, 42.66 ± 7.85, and 30.55 ± 6.34 ng/ml, respectively). It is concluded that there is a significant association between rs3918242 MMP-9 polymorphism and its serum concentration with autism. We also suggest that TT genotype is associated with increased MMP9 expression and may be a risk factor for ASD.

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Section: Discussionmentioning

confidence: 99%

How matrix metalloproteinase (MMP)-9 (rs3918242) polymorphism affects MMP-9 serum concentration and associates with autism spectrum disorders: A case-control study in Iranian population

2021

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“…It was suggested that methionine synthase (rs1805087), neuropilin-2, SHANK3 rs9616915, and contactin associated-like 2 rs7794745 polymorphisms are associated with an increased risk of autism [26][27][28][29]. However, it was suggested that methylenetetrahydrofolate reductase polymorphism (rs1801133) is not associated with autism in a northern Iranian population [30].…”

Section: Discussionmentioning

confidence: 99%

Association of Hepatocyte Growth Factor Genetic Variation (S3735520) and Its Concentration in Autism Spectrum Disorders: A Case-control Study

Khalili

Mashayekhi

Salehi

2020

Caspian J Neurol Sci

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Background: Hepatocyte Growth Factor (HGF) was shown to play a key role in synaptogenesis, survival, maturation, and reconstruction of neuron cells and was shown to be implicated in Autism Spectrum Disorder (ASD). Objectives: Assessing the relationship between HGF (rs3735520) gene polymorphism and its circulating levels in ASD. Materials & Methods: A total of 140 ASD patients and 120 children healthy controls referred to Shahid Rajaei Hospital, Mazandaran, Iran from September 2017 to January 2019 were enrolled in the study. Genomic DNA was extracted from blood samples, HGF polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism and HGF serum concentration was measured by enzyme-linked immunosorbent assay. Statistical analysis was done by ANOVA and the Chi-square test, using χ² in MedCalc statistical software ver. 12.1.4. Results: Genotype frequencies of CC, CT, and TT in the ASD group were 25.71%, 52.86%, and 21.43%, and in controls were 26.67%, 68.33%, and 5%, respectively (P=0003) and C and T alleles frequencies in patients were 53% and 47% and in controls were 61% and 39%, respectively (P=0.046). Moreover, the Mean±SD serum HGF levels in the controls and ASD patients were 363.33±118.44 and 219.95±73.61 pg/mL, respectively (P=0.009). Furthermore, ASD patients carrying TT genotype had lower serum HGF levels than CT and TT carriers (CC, CT, and TT Mean±SD serum levels were 271.88±30.47, 217.77±33.59 and 156.33±22.72 pg/mL, respectively). Conclusion: There was a significant relationship between HGF gene polymorphism and its serum levels with ASD in an Iranian population. We also suggest that TT genotype may be associated with a decrease in HGF circulation levels in ASD.

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“…Different polymorphisms of this gene such as 677CT/1298AC was found to be associated with ASD ( p = 0.0207) [ 81 , 82 , 83 ]. Other studies indicated other polymorphisms such as rs1801133 [ 84 ], and the discrepancies between these studies is attributed to the inconsistency of the dietary composition in different groups involved in major studies.…”

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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MTHFR rs1801133 Gene Polymorphism and Autism Susceptibility

Cited by 5 publications

References 31 publications

How matrix metalloproteinase (MMP)-9 (rs3918242) polymorphism affects MMP-9 serum concentration and associates with autism spectrum disorders: A case-control study in Iranian population

How matrix metalloproteinase (MMP)-9 (rs3918242) polymorphism affects MMP-9 serum concentration and associates with autism spectrum disorders: A case-control study in Iranian population

Association of Hepatocyte Growth Factor Genetic Variation (S3735520) and Its Concentration in Autism Spectrum Disorders: A Case-control Study

Gut microbiota metabolites in autistic children: An epigenetic perspective

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