TitleHuman genetic variation influences vitamin C homeostasis by altering vitamin C transport and antioxidant enzyme function.
Publication TypeJournal Article
Year of Publication2013
AuthorsMichels AJ, Hagen TM, Frei B
JournalAnnu Rev Nutr
Date Published2013
KeywordsAnimals, Ascorbic Acid, Biological Transport, Genetic Variation, Homeostasis, Humans, Oxidoreductases, Sodium-Coupled Vitamin C Transporters

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.

Alternate JournalAnnu. Rev. Nutr.
PubMed ID23642198
PubMed Central IDPMC4357493
Grant ListT32 ES007060 / ES / NIEHS NIH HHS / United States