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  

Oleh:

Timpson, Nicholas J ; Forouhi, Nita G ; Brion, Marie-Jo ; Harbord, Roger M

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The American Journal of Clinical Nutrition vol. 92 no. 02 (Aug. 2010), page 375-382.
Topik: Nutritional epidemiology and public health

Ketersediaan

Perpustakaan FK Nomor Panggil: A07.K.2010.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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 µmol/L; 95% CI: -0.49, -7.81 µmol/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 µmol/L (95% CI: -8.23, -3.73 µmol/L; P = 2.0 × 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.

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