[Total plasma homocysteine levels. Relationship with plasmatic folic acid levels and 677C T polymorphism of 5,10-methylenetetrahydrofolate reductase] Anales españoles de pediatría. [An Esp Pediatr] Journal article | | Title | [Total plasma homocysteine levels. Relationship with plasmatic folic acid levels and 677C T polymorphism of 5,10-methylenetetrahydrofolate reductase] | | Author(s) | Dalmau Serra J, Ferrer Lorente B, Modesto Alapont V, Guillén Domínguez M, Vázquez Gomis R, Corella Piquer D, Cabello Tomás ML, García Gómez AM | | Institution | Unidad de Nutrición y Metabolopatías, Hospital Infantil La Fe, Valencia, Spain. jdalmaus@ono.com | | Source | An Esp Pediatr 2002 May; 56(5):409-15. | | MeSH | Adolescent
Child
Child, Preschool
Cytosine
English Abstract
Female
Folic Acid
Homocysteine
Humans
Male
Methylenetetrahydrofolate Dehydrogenase (NADP)
Polymorphism, Genetic
Regression Analysis
Tyrosine
| | Abstract | BACKGROUND: Moderately increased plasma homocysteine (Hcy) in children has been associated with stroke and venous thrombosis and with a parental history of cardiovascular disease (CVD). Evaluation of Hcy concentrations during childhood and study of the factors determining its concentrations could play an important role in the primary prevention of CVD.Objective To detect cases of hyperhomocystinemia and to examine the association between Hcy levels and plasma folic acid levels and 677C T polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR).
METHODS: The relationship between plasma Hcy levels, plasma folic acid levels, and the three genotypes of 677C T MTHFR polymorphism was investigated in 127 children (aged 2-18 years) and in 105 parents by multiple linear regression.
RESULTS: The median Hcy levels were 5.00 mol/l in the children and 8.00 mol/l in the parents. Plasma folic acid levels were normal in all of the patients. The prevalence of the three genotypes in the children was 32.3 % for the CC genotype, 42.5 % for the CT genotype and 15.7 % for the TT genotype. Hcy concentrations were significantly higher in children with the TT genotype (p 0.018). Multiple linear regression revealed a positive direct effect of age (b 0.029, p 0.002) and a negative effect of genotype TT (b 3.886, p 0.002) on Hcy concentration. Hcy concentration was inversely correlated with folic acid levels but this correlation did not reach statistical significance.
CONCLUSIONS: No cases of hyperhomocystinemia were found. To evaluate Hcy, age and plasma folic acid levels have to be taken into account in case there is a 677C T mutation. Hcy concentrations should be determined in older children with a family history of atherothrombosis and other risk factors for premature CVD. | | Language | spa | | Pub Type(s) | Journal Article
| | PubMed ID | 12042168 |
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