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Methylenetetrahydrofolate reductase gene A1298C polymorphism and gene-environment interactions are associated with carotid plaque in a south Chinese population.

ABSTRACT: OBJECTIVE:Our primary objective was to evaluate the associations of conventional risk factors and methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms with the risk of carotid plaque in a south Chinese population. Our secondary objective was to explore gene-environment interactions and potential relationship with carotid plaque. METHOD:We enrolled 229 patients suffer from carotid plaque and 180 controls in this case-control study. We measured the carotid intima-media thickness by ultrasound and investigated conventional risk factors, biomarkers and C677T/A1298C MTHFR genotypes. Logistic analysis was used to evaluate the association between conventional risk factors and carotid plaque. The SNPstats platform was used to investigate the association between MTHFR gene polymorphisms and carotid plaque under 5 genetic models (dominant, recessive, codominant, over dominant and additive models). Gene-environment interactions analysis was then performed by multifactor dimensionality reduction. RESULTS:Age and hypertension were identified as independent risk factors of carotid plaque. C677T and A1298C demonstrated associations with carotid plaque under the recessive model (C677T: P = 0.03, odds ratio = 3.14, 95% confidence interval = 1.04-11.21; A1298C: P = 0.018, odds ratio = 2.40, 95% confidence interval = 1.13-5.10). Neither C677T nor A1298C polymorphism was associated with stable or vulnerable plaques. Additionally, Significant multiplicative and additive interactions were observed in terms of carotid plaque between A1298C polymorphism and diabetes, age, and smoking (P = 0.013). CONCLUSION:MTHFR gene C677T and A1298C polymorphisms may act as modifiers of carotid plaque risk in south Chinese population. In addition, the combined effect of gene-environment interactions between A1298C polymorphism and conventional risk factors may promote the progression of carotid plaque.

SUBMITTER: Zhou F

PROVIDER: S-EPMC6965971 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundMethylenetetrahydrofolate reductase, the encoded by the MTHFR gene, plays a crucial role in converting the amino acid homocysteine to methionine. Two polymorphisms of the MTHFR gene, C677T and A1298C, reportedly reduce enzyme activity, resulting in hyperhomocysteinemia. Patients with C677T and A1298C polymorphisms may be at higher risk for developing abnormal hyperhomocysteinemia, which has been linked to catastrophic neurological including fatal outcomes.ObjectiveDetermine the prevalence of the MTHFR gene variants C677T and A1298C among pediatric dental patients treated at King Abdulaziz University Hospital.DesignCross-sectional.SettingClinics of pediatric dentistry department.Subjects and methodsHealthy Saudi children 6-12 years old with no known allergies were screened for eligibility between May and December 2019. A single investigator collected saliva samples. The MTHFR C677T and A1298C polymorphisms were analyzed using polymerase chain reaction and restriction fragment length polymorphism.Main outcome measureThe prevalence of MTHFR gene variants (C677T and A1298C) among the subjects.Sample size138.ResultsMTHFR C677T polymorphism was present in 36.2% of the sample and 90.0% of children carrying this allele were heterozygotes. MTHFR A1298C polymorphism was present in 91.3% of the sample and 77.0% of the children carrying this allele were heterozygotes. No linkage disequilibrium between MTHFR C677T and MTHFR A1298C was observed within this sample.ConclusionsOur study found a high frequency of the MTHFR A1298C genotype, which was substantially more abundant than expected based on a Hardy-Weinberg distribution. Therefore, caution is advised in using N2O in Saudi children as the increased prevalence of this MTHFR allele may increase the incidence of serious adverse effects among these children.LimitationsFurther studies are recommended with a larger sample size from randomly selected hospitals from different regions of Saudi Arabia.Conflict of interestNone.

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Methylenetetrahydrofolate reductase gene A1298C polymorphism and gene-environment interactions are associated with carotid plaque in a south Chinese population.

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