McCaddon, Andrew, Carr, Daniel F, Peter, Hudson, Moat, Stuart J and Quadros, Edward V
(2023)
Transcobalamin receptor gene polymorphisms and mutation in an elderly population.
Clinical nutrition ESPEN, 55.
pp. 425-427.
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Abstract
<h4>Background & aims</h4>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.<h4>Methods</h4>We determined CD320 genotype in 377 randomly selected elderly individuals.<h4>Results</h4>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.<h4>Conclusions</h4>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 |
|---|---|
| Uncontrolled Keywords: | Humans, Vitamin B 12, Receptors, Cell Surface, Mutation, Polymorphism, Genetic, Aged |
| Divisions: | Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Systems, Molecular and Integrative Biology |
| Depositing User: | Symplectic Admin |
| Date Deposited: | 15 May 2023 15:07 |
| Last Modified: | 10 Jun 2023 01:15 |
| DOI: | 10.1016/j.clnesp.2023.04.023 |
| Related URLs: | |
| URI: | https://livrepository.liverpool.ac.uk/id/eprint/3170388 |
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