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Chango, A. et al.

Chango, Emery-Fillon, de Courcy, Lambert, Pfister, Rosenblatt, Nicolas,

A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia.

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).[1]

References

A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Chango, A., Emery-Fillon, N., de Courcy, G.P., Lambert, D., Pfister, M., Rosenblatt, D.S., Nicolas, J.P. Mol. Genet. Metab. (2000) [Pubmed]

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