New evidence for the regulation of vitamin C homeostasis has emerged from
several studies of human genetic variation. Polymorphisms in the genes encoding
sodium-dependent vitamin C transport proteins are strongly associated with
plasma ascorbate levels and likely impact tissue cellular vitamin C status.
Furthermore, genetic variants of proteins that suppress oxidative stress or
detoxify oxidatively damaged biomolecules, i.e., haptoglobin,
glutathione-S-transferases, and possibly manganese superoxide dismutase, affect
ascorbate levels in the human body. There also is limited evidence for a role of
glucose transport proteins. In this review, we examine the extent of the
variation in these genes, their impact on vitamin C status, and their potential
role in altering chronic disease risk. We conclude that future epidemiological
studies should take into account genetic variation in order to successfully
determine the role of vitamin C nutriture or supplementation in human vitamin C
status and chronic disease risk.