Retrospective cohort study of the MTHFR C677T/A1298C polymorphisms and human homocysteine levels in Helicobacter pylori infection.

This study avalited relationship between human Methylenetetrahydrofolate reductase (MTHFR) gene (C677T(rs1801133)/A1298C(rs1801131)) variants and homocysteine levels in 168 patients who are infected with Helicobacter pylori, diagnosed to PCR analysis. PCR-RFLP methods were performed to characterize the MTHFR gene C677T/A1298C variants in DNA samples obtained from gastric biopsies this patients. An immunoenzymatically assay was used for quantitative of total homocysteine and folate levels in the plasma of the same individuals. The adopted level statistical significance was to α = 0.05. The frequency of the C677T SNP was higher in infected individuals, wherein those with the CT/TT genotype presented a three-fold higher risk of acquiring Helicobacter pylori infection. The averages of the total homocysteine concentrations were associated with the TT genotype, advanced age and the male sex, but no dependence relationship was found with Helicobacter pylori infection.

The interplay between exposure to PAHs and MTHFR C677T polymorphism on cardiovascular risk biomarkers in Mexican women.

Cardiovascular diseases (CVDs) are the leading cause of morbidity and mortality worldwide. Environmental and genetic factors are recognized as risk determinants in the onset and development of CVDs. However, the interaction between both factors on CVDs risk is not still completely clarified. Therefore, the objective of this study was to evaluate the effect of the interaction between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and polycyclic aromatic hydrocarbon (PAH) exposure (gene-environment interaction) on cardiovascular risk biomarkers in Mexican women. A cross-sectional study was completed with the participation of 390 healthy women. For all enrolled women, anthropometric measurements, serum biochemical analyses, atherogenic indexes, and serum concentrations of biomolecules used as CVD risk biomarkers were obtained. 1-Hydroxypyrene (1-OHP) was measured in urine, as an exposure biomarker of PAHs. The mean urinary level of 1-OHP in the assessed population was 1.23 ± 1.40 µmol/mol creatinine. The allelic frequency (MTHFR C677T polymorphism) identified in the registered individuals was 68.0% for the mutant allele (T-allele). Significant positive associations were detected between urinary 1-OHP levels and serum asymmetric dimethylarginine (ADMA) concentrations (p < 0.05) and atherogenic index of plasma (AIP) values (p < 0.05). Also, women with the TT genotype of the MTHFR C677T enzyme have the highest serum ADMA levels (p < 0.05) and AIP values (p < 0.05) compared to women grouped as CC genotype and CT genotype. Besides, the findings in this study suggest an interaction between environmental (PAHs exposure) and genetic (MTHFR C677T polymorphism) factors on cardiovascular risk markers (ADMA and AIP). According to the usefulness of AIP and ADMA, an increased cardiovascular risk is notable in highly exposed individuals to PAHs with the polymorphic genotype (TT) of the MTHFR enzyme. Therefore, intervention programs in the target communities are required to diminish the cardiovascular risk of the assessed individuals.

Variabilidade genética MTHFR no desenvolvimento da doença arterial coronária / MTHFR genetic variability on coronary artery disease development

OBJETIVO: Concentração elevada de homocisteína (Hcy) é considerada um fator de risco para doença arterial coronária (DAC). Alterações genéticas da enzima metilenotetrahidrofolato redutase (MTHFR), envolvida no metabolismo da Hcy, podem reduzir sua termolabilidade contribuindo para o desenvolvimento de lesões ateroscleróticas. O objetivo deste estudo foi investigar a relação entre os polimorfismos MTHFR C677T e A1298C e a presença, extensão e gravidade da DAC. MÉTODOS: Foram avaliados 175 pacientes com DAC, confirmada por angiografia e 108 indivíduos sem DAC (grupo controle). O polimorfismo MTHFR C677T foi investigado por reação em cadeia da polimerase (PCR) seguida de digestão enzimática. A genotipagem do polimorfismo MTHFR A1298C foi realizada pela técnica de PCR alelo-específica. RESULTADOS: A frequência do alelo alterado MTHFR 677C foi de 0,38 no grupo DAC e 0,37 no grupo controle. Em relação ao alelo polimórfico MTHFR 1298C, a frequência foi de 0,22 e 0,27, respectivamente. As distribuições genotípicas MTHFR C677T e A1298C não diferiram em relação ao número de artérias lesadas (P > 0,05). Também não foi observada relação entre o polimorfismo para MTHFR C677T e grau de obstrução arterial coronária (P > 0,05), assim como MTHFR A1298C (P > 0,05). CONCLUSÃO: Nossos resultados não demonstraram associação entre os polimorfismos MTHFR A1298C e MTHFR C677T e presença, extensão ou gravidade da DAC.

OBJECTIVE: Increased homocysteine (Hcy) concentration is considered a risk factor for coronary artery disease (CAD). Genetic alterations of the metylenetetrahydrofolate reductase (MTHFR) enzyme could reduce its thermolability and alter the Hcy metabolism, contributing to development of atherosclerotic lesions. Objective of this study was to investigate the relation between MTHFR C677T and A1298C polymorphisms and presence, extension, and severity of CAD. METHODS: One hundred seventy-five patients with CAD confirmed by angiography, and 108 individuals without CAD (control group) were evaluated. MTHFR C677T polymorphism was investigated by polymerase chain reaction (PCR) followed by enzyme digestion. The genotyping of the MTHFR A1298C polymorphism was performed by PCR allele-specific method. RESULTS: Frequency of the altered allele MTHFR 677C was 0.38 in the CAD group and 0.37 in the control group. Regarding the polymorphic allele MTHFR 1298C, frequency was 0.22 and 0.27, respectively. The genotype distribution MTHFR C677T and A1298C did not differ regarding number of affected vessels (P > 0.05). Also, relation between MTHFR C677T polymorphism and degree of arterial obstruction was not observed (P > 0.05), as well as the MTHFR A1298C polymorphism (P > 0.05). CONCLUSION: Results did not show association between MTHFR A1298C and MTHFR C677T polymorphisms and presence, extension or severity of CAD.