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

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)

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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
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:McConnachie, Dr Alex and Johnson, Dr Paul and Padmanabhan, Professor Sandosh and Watt, Professor Graham 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 > Institute of Health and Wellbeing > Robertson Centre
College of Medical Veterinary and Life Sciences > Institute of Health and Wellbeing > General Practice and Primary Care
Journal Name:American Journal of Clinical Nutrition
Journal Abbr.:Am. j. clin. nutr.
ISSN:0002-9165
ISSN (Online):1938-3207
Published Online:02 June 2010

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