Transcobalamin receptor gene polymorphisms and mutation in an elderly population
McCaddon, Andrew, Carr, Daniel F., Hudson, Peter, Moat, Stuart and Quadros, Edward V. (2023) Transcobalamin receptor gene polymorphisms and mutation in an elderly population. Clinical Nutrition ESPEN, 55. pp. 425-427. ISSN 2405-4577
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Abstract
Background & aims: Cellular uptake of the essential nutrient vitamin B12 (cobalamin) occurs via the transcobalamin receptor (TCblR/CD320), a ubiquitous membrane receptor. Polymorphisms in the receptor exist, though the effect of such variants across patient populations is unknown. Methods: We determined CD320 genotype in 377 randomly selected elderly individuals. Results: Three polymorphisms and a codon deletion were identified in the exon 2 region. Haplotype variants had significantly higher holotranscobalamin (holo-TC) values and a higher holo-TC/total cobalamin ratio. TCblR haplotype explained 46% of the variability in holo-TC values. Conclusions: This has significant implications for the clinical utility of the 'combined indicator' of B12 status since it is based on a standard rate of intracellular flux via the TC-Cbl receptor. Modification of the model may be required to account for CD320 haplotype.
| Item Type: | Article |
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| Keywords: | CD320, Cobalamin, Gene, Polymorphisms, Transcobalamin, Transcobalamin receptor, Vitamin B12 |
| Divisions: | Social and Life Sciences |
| Depositing User: | Hayley Dennis |
| Date Deposited: | 20 Oct 2023 06:29 |
| Last Modified: | 20 Oct 2023 06:29 |
| URI: | https://wrexham.repository.guildhe.ac.uk/id/eprint/18085 |
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