Timpson, N.J. et al. (2010) 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. American Journal of Clinical Nutrition, 92(2), pp. 375-382. (doi: 10.3945/ajcn.2010.29438) (PMID:20519558) (PMCID:PMC3605792)
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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 {micro}mol/L; 95% CI: -0.49, -7.81 {micro}mol/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 {micro}mol/L (95% CI: -8.23, -3.73 {micro}mol/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.
| Item Type: | Articles |
|---|---|
| Additional Information: | A correction to this article is available at https://doi.org/10.3945/ajcn.113.065342. |
| Status: | Published |
| Refereed: | Yes |
| Glasgow Author(s) Enlighten ID: | Watt, Professor Graham and McConnachie, Professor Alex and Johnson, Dr Paul and Padmanabhan, Professor Sandosh and Sattar, Professor Naveed |
| Authors: | Timpson, N.J., Forouhi, N.G., Brion, M.-J., Harbord, R.M., Cook, D.G., Johnson, P.C.D., McConnachie, A., Morris, R.W., Rodriguez, S., Luan, J., Ebrahim, S., Padmanabhan, S., Watt, G.C.M., Bruckdorfer, K.R., Wareham, N.J., Whincup, P.H., Chanock, S., Sattar, N., Lawlor, D.A., and Davey Smith, G. |
| College/School: | College of Medical Veterinary and Life Sciences > School of Health & Wellbeing > General Practice and Primary Care College of Medical Veterinary and Life Sciences > School of Health & Wellbeing > Robertson Centre |
| Journal Name: | American Journal of Clinical Nutrition |
| Journal Abbr.: | Am. j. clin. nutr. |
| Publisher: | American Society for Nutrition |
| ISSN: | 0002-9165 |
| ISSN (Online): | 1938-3207 |
| Published Online: | 02 June 2010 |
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