A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia.
Mol Genet Metab
; 70(4): 310-5, 2000 Aug.
Article
em En
| MEDLINE
| ID: mdl-10993718
ABSTRACT
5-methyltetrahydrofolate is the predominant form of folate in plasma. It may be the preferred substrate for transport via the reduced-folate carrier (RFC). We isolated a cDNA for the reduced folate carrier (RFC-1) from human skin fibroblasts. A common polymorphism at position 80 in exon 2 of RFC-1 was identified. This polymorphism changes a guanine (G) to an adenine (A), abolishing a CfoI restriction site. Using genomic DNA samples from 169 healthy subjects, we identified 27.1% GG homozygotes, 21.9% AA homozygotes, and 50.9% GA heterozygotes. We explored the impact of this polymorphism, separately and in combination with the 677C->T polymorphism in the methylenetetrahydrofolate reductase gene, on folate status and total homocysteine levels. We found a moderate, but significant, increase in total homocysteine levels in doubly homozygous 80GG/677TT subjects as compared to 80GG/677CC (P = 0.01) or 80GG/677CT (P = 0.04) subjects. In addition, individuals who were 80AA/677CT had higher plasma folate levels than those who were 80GG/677CT (P = 0.02).
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Base de dados:
MEDLINE
Assunto principal:
Proteínas de Membrana Transportadoras
/
Polimorfismo Genético
/
Proteínas de Transporte
/
Mutação Puntual
/
Ácido Fólico
/
Homocisteína
/
Proteínas de Membrana
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2000
Tipo de documento:
Article