Journal
MOLECULAR GENETICS AND METABOLISM
Volume 70, Issue 4, Pages 310-315Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1006/mgme.2000.3034
Keywords
folate status; homocysteine; methylenetetrahydrofolate reductase; polymorphism; reduced-folate carrier
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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 mere 80AA/677CT had higher plasma folate levels than those who were 80GG/677CT (P = 0.02). (C) 2000 Academic Press.
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