Genetic Variations Associated with Vitamin A Status and Vitamin A Bioavailability

Nutrients. 2017 Mar 8;9(3):246. doi: 10.3390/nu9030246.

Abstract

Blood concentration of vitamin A (VA), which is present as different molecules, i.e., mainly retinol and provitamin A carotenoids, plus retinyl esters in the postprandial period after a VA-containing meal, is affected by numerous factors: dietary VA intake, VA absorption efficiency, efficiency of provitamin A carotenoid conversion to VA, VA tissue uptake, etc. Most of these factors are in turn modulated by genetic variations in genes encoding proteins involved in VA metabolism. Genome-wide association studies (GWAS) and candidate gene association studies have identified single nucleotide polymorphisms (SNPs) associated with blood concentrations of retinol and β-carotene, as well as with β-carotene bioavailability. These genetic variations likely explain, at least in part, interindividual variability in VA status and in VA bioavailability. However, much work remains to be done to identify all of the SNPs involved in VA status and bioavailability and to assess the possible involvement of other kinds of genetic variations, e.g., copy number variants and insertions/deletions, in these phenotypes. Yet, the potential usefulness of this area of research is exciting regarding the proposition of more personalized dietary recommendations in VA, particularly in populations at risk of VA deficiency.

Keywords: absorption; bioavailability; blood concentration; carotenoids; genetic polymorphisms; nutrigenetics; postprandial; provitamin A; retinol; retinyl palmitate; α-carotene; β-carotene; β-cryptoxanthin.

Publication types

  • Review

MeSH terms

  • Biological Availability
  • DNA Copy Number Variations
  • Diet
  • Gastrointestinal Absorption
  • Genetic Association Studies*
  • Humans
  • Liver / drug effects
  • Liver / metabolism
  • Polymorphism, Single Nucleotide*
  • Postprandial Period
  • Recommended Dietary Allowances
  • Vitamin A / administration & dosage
  • Vitamin A / blood*
  • Vitamin A / pharmacokinetics*
  • Vitamin A Deficiency / blood
  • Vitamin A Deficiency / genetics
  • Vitamin A Deficiency / prevention & control

Substances

  • Vitamin A