title: Genetic Variation in Human Vitamin C Transporter Genes in Common Complex Diseases.
abstract: Adequate plasma, cellular, and tissue vitamin C concentrations are required for maintaining optimal health through suppression of oxidative stress and optimizing functions of certain enzymes that require vitamin C as a cofactor. Polymorphisms in the vitamin C transporter genes, compromising genes encoding sodium-dependent ascorbate transport proteins, and also genes encoding facilitative transporters of dehydroascorbic acid, are associated with plasma and tissue cellular ascorbate status and hence cellular redox balance. This review summarizes our current knowledge of the links between variations in vitamin C transporter genes and common chronic diseases. We conclude that emerging genetic knowledge has a good likelihood of defining future personalized dietary recommendations and interventions; however, further validations through biological studies as well as controlled dietary trials are required to identify predictive and actionable genetic biomarkers. We further advocate the need to consider genetic variation of vitamin C transporters in future clinical and epidemiologic studies on common complex diseases.
authors.affiliation: Human Nutritional Sciences, University of Manitoba, Winnipeg, Canada.
authors.forename: Mandana Amir
authors.initials: MA
authors.lastname: Shaghaghi
authors.affiliation: Human Nutritional Sciences, University of Manitoba, Winnipeg, Canada.
authors.forename: Olena
authors.initials: O
authors.lastname: Kloss
authors.affiliation: Human Nutritional Sciences, University of Manitoba, Winnipeg, Canada peter.eck@ad.umanitoba.ca.
authors.forename: Peter
authors.identifier: http://orcid.org/0000-0003-2371-9774
authors.initials: P
authors.lastname: Eck
mesh_terms: D002908:Chronic Disease; D056726:Genetic Association Studies / Q000639:trends; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D051246:Glucose Transport Proteins, Facilitative / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D054647:Nutrigenomics / Q000379:methods / Q000639:trends; D018384:Oxidative Stress; D020641:Polymorphism, Single Nucleotide; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D060347:Sodium-Coupled Vitamin C Transporters / Q000235:genetics* / Q000378:metabolism
chemical_list: D051246:Glucose Transport Proteins, Facilitative; D020033:Protein Isoforms; D060347:Sodium-Coupled Vitamin C Transporters
keywords: antioxidants; genomics; inflammation; nutrigenomics; vitamin C