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Am J Clin Nutr. 2010 Aug;92(2):375-82. doi: 10.3945/ajcn.2010.29438. Epub 2010 Jun 2.

Genetic variation at the SLC23A1 locus is associated with circulating concentrations of L-ascorbic acid (vitamin C): evidence from 5 independent studies with >15,000 participants.

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1
Medical Research Council Centre for Causal Analyses in Translational Epidemiology, University of Bristol, Department of Social Medicine, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom. n.j.timpson@bris.ac.uk

Erratum in

  • Am J Clin Nutr. 2013 Jul;98(1):253-4.

Abstract

BACKGROUND:

L-ascorbic acid is an essential part of the human diet and has been associated with a wide range of chronic complex diseases, including cardiovascular outcomes. To date, there are no confirmed genetic correlates of circulating concentrations of L-ascorbic acid.

OBJECTIVE:

We aimed to confirm the existence of an association between common variation at the SLC23A1 gene locus and circulating concentrations of L-ascorbic acid.

DESIGN:

We used a 2-stage design, which included a discovery cohort (the British Women's Heart and Health Study), a series of follow-up cohorts, and meta-analysis (totaling 15,087 participants) to assess the relation between variation at SLC23A1 and circulating concentrations of L-ascorbic acid.

RESULTS:

In the discovery cohort, variation at rs33972313 was associated with a reduction in circulating concentrations of L-ascorbic acid (-4.15 micromol/L; 95% CI: -0.49, -7.81 micromol/L; P = 0.03 reduction per minor allele). Pooled analysis of the relation between rs33972313 and circulating L-ascorbic acid across all studies confirmed this and showed that each additional rare allele was associated with a reduction in circulating concentrations of L-ascorbic acid of -5.98 micromol/L (95% CI: -8.23, -3.73 micromol/L; P = 2.0 x 10(-7) per minor allele).

CONCLUSIONS:

A genetic variant (rs33972313) in the SLC23A1 vitamin C active transporter locus was identified that is reliably associated with circulating concentrations of L-ascorbic acid in the general population. This finding has implications more generally for the epidemiologic investigation of relations between circulating L-ascorbic acid and health outcomes.

PMID:
20519558
PMCID:
PMC3605792
DOI:
10.3945/ajcn.2010.29438
[Indexed for MEDLINE]
Free PMC Article
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