A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia
- PMID: 10993718
- DOI: 10.1006/mgme.2000.3034
A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia
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).
Copyright 2000 Academic Press.
Comment in
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Genetic polymorphism (G80A) of reduced folate carrier gene in ethnic populations.Mol Genet Metab. 2001 Jul;73(3):285-6. doi: 10.1006/mgme.2001.3197. Mol Genet Metab. 2001. PMID: 11461197 No abstract available.
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