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Transcobalamin receptor gene polymorphisms and mutation in an elderly population

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. 10.1016/j.clnesp.2023.04.023

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Summary 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
Date Type: Published Online
Status: Published
Schools: Medicine
Publisher: Elsevier
ISSN: 2405-4577
Date of First Compliant Deposit: 12 July 2023
Date of Acceptance: 27 April 2023
Last Modified: 14 Jul 2023 06:26

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