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.
Level 3 - non-randomized controlled study
Meta-analysis of observational genetic cohort studies
PubMed 20519558 · doi:10.3945/ajcn.2010.29438
What was done
Researchers evaluated the association between common genetic variation at the SLC23A1 locus and circulating concentrations of L-ascorbic acid (vitamin C). They used a two-stage design with a discovery cohort (the British Women's Heart and Health Study), follow-up cohorts, and a meta-analysis across 5 independent studies totaling 15,087 participants.
What was found
In the discovery cohort, the rs33972313 variant was associated with lower circulating L-ascorbic acid (-4.15 micromol/L; 95% CI: -7.81, -0.49 micromol/L; P = 0.03 per minor allele). In pooled meta-analysis across all studies, each additional rare allele was associated with a -5.98 micromol/L reduction in circulating L-ascorbic acid (95% CI: -8.23, -3.73 micromol/L; P = 2.0 x 10^-7).
Why it matters
This study identifies a confirmed genetic determinant (SLC23A1 rs33972313) of circulating vitamin C levels in the general population. It provides a potential genetic tool for Mendelian randomization studies investigating causal links between vitamin C and chronic health outcomes.
Limits
The abstract does not provide details on participant demographics, ethnicity, or dietary vitamin C intake. Clinical outcomes associated with this genetic reduction were not assessed in the reported data.
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