| 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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MedLine Citation:
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PMID: 20519558 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Nicholas J Timpson; Nita G Forouhi; Marie-Jo Brion; Roger M Harbord; Derek G Cook; Paul Johnson; Alex McConnachie; Richard W Morris; Santiago Rodriguez; Jian'an Luan; Shah Ebrahim; Sandosh Padmanabhan; Graham Watt; K Richard Bruckdorfer; Nicholas J Wareham; Peter H Whincup; Steve Chanock; Naveed Sattar; Debbie A Lawlor; George Davey Smith |
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Publication Detail:
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Type: Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't Date: 2010-06-02 |
Journal Detail:
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Title: The American journal of clinical nutrition Volume: 92 ISSN: 1938-3207 ISO Abbreviation: Am. J. Clin. Nutr. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-21 Completed Date: 2010-08-12 Revised Date: 2011-01-21 |
Medline Journal Info:
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Nlm Unique ID: 0376027 Medline TA: Am J Clin Nutr Country: United States |
Other Details:
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Languages: eng Pagination: 375-82 Citation Subset: AIM; IM |
Affiliation:
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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 |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aged Ascorbic Acid / blood* Cohort Studies Female Genetics, Population Genotype Humans Linear Models Male Middle Aged Organic Anion Transporters, Sodium-Dependent / genetics* Polymorphism, Single Nucleotide* Symporters / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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051187/Z/97/A//Wellcome Trust; FS/05/095/19937//British Heart Foundation; FS05/125//British Heart Foundation; G0600705//Medical Research Council; G0601625//Medical Research Council; G9900686//Medical Research Council; PG97012//British Heart Foundation; PG97027//British Heart Foundation; //Department of Health |
| Chemical | |
Reg. No./Substance:
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0/Organic Anion Transporters, Sodium-Dependent; 0/Symporters; 0/sodium-dependent vitamin C transporter; 50-81-7/Ascorbic Acid |
| Comments/Corrections | |
Comment In:
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Am J Clin Nutr. 2010 Aug;92(2):271-2
[PMID:
20592130
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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