Aim: The aim of this study was to investigate possible relationships among the A1298C (rs1801131) and C677T (rs1801133) polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and levels of homocysteine, vitamins B₆, B₁₂, folic acid and lipid profile, including oxidized low-density lipoprotein (ox-LDL), of adolescents at cardiovascular risk. Methods: We recruited 115 adolescents (10-19 years old), 58.3% (n = 67) female, from a public school in Brazil who underwent anthropometric, biochemical and genetic tests as well as food consumption evaluation. Results: An important prevalence of hyperhomocysteinemia (19.1%) and alterations in triacylglycerol (17.4%), total cholesterol (26.9%) and high-density lipoprotein (HDL) cholesterol (48.0%) concentrations were observed, as well as low vitamin B₆ concentrations (23.5%). The categorization of homocysteine concentrations into tertiles revealed significant differences in serum concentrations of folate, vitamin B₁₂ and HDL, waist circumference and intake of total and saturated fat among the tertiles. The presence of variant alleles regarding the MTHFR C677T polymorphism interfered with vitamin B₆ and ox-LDL cholesterol concentrations. There was a trend for higher waist circumference values in T carriers (C677T), but not in C carriers (A1298C). Conclusions: The MTHFR C677T allele was associated with higher plasma vitamin B₆ and ox-LDL compared to the CC genotype.

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Background: Cardiovascular diseases constitute the main death cause worldwide resulting from a combination of genetic and lifestyle factors, and the prevalence among younger individuals has increased. It is important to early identify changes in lipid profile and the influence of genetic variations in specific genes on the individual patterns of lipid profile. Thus, the aim of this study was to verify the relationship of polymorphisms in PPAR-gamma gene (PPARG − rs1801282 − Pro12Ala) and in apolipoprotein E gene (APOE − rs429358 + rs7412, determinants of the APOE2, APOE3, or APOE4 genotypes) with lipid profile of adolescents under cardiovascular risk factors. Methods: This was a cross-sectional study with 115 adolescents aged 10-19 years, which presented cardiovascular risk factors. The students were evaluated regarding socioeconomic, anthropometric, biochemical, genetic, and dietetic variables. Student's t test or Mann-Whitney test were applied to the analysis of the genotypes. Multiple linear regression analysis was performed to determine the variables that most influenced the lipid profile. Results: Adolescents carrying PPARG Ala allele showed higher serum triglycerides (p = 0.0423) and very low-density lipoprotein (p = 0.0410) levels when compared to those carrying the wild genotype. For the APOE polymorphism, it was observed a trend of higher triglycerides (p = 0.0712) and very low-density lipoprotein (p = 0.0758) levels in the adolescents carrying the E4 allele when compared to those who did not carry this allele. Conclusion: The polymorphisms PPARG rs1801282 and APOE rs429358 + rs7412 seem to be related to the development of lipid profile alterations in adolescents.