Transcobalamin receptor gene polymorphisms and mutation in an elderly population.
CD320
Cobalamin
Gene
Polymorphisms
Transcobalamin
Transcobalamin receptor
Vitamin B12
Journal
Clinical nutrition ESPEN
ISSN: 2405-4577
Titre abrégé: Clin Nutr ESPEN
Pays: England
ID NLM: 101654592
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
received:
03
11
2022
revised:
05
04
2023
accepted:
27
04
2023
medline:
22
5
2023
pubmed:
19
5
2023
entrez:
18
5
2023
Statut:
ppublish
Résumé
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. We determined CD320 genotype in 377 randomly selected elderly individuals. 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. 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.
Sections du résumé
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.
Identifiants
pubmed: 37202078
pii: S2405-4577(23)00116-X
doi: 10.1016/j.clnesp.2023.04.023
pii:
doi:
Substances chimiques
Receptors, Cell Surface
0
transcobalamin receptor
0
Vitamin B 12
P6YC3EG204
CD320 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
425-427Subventions
Organisme : Medical Research Council
Pays : United Kingdom
Informations de copyright
Copyright © 2023 The Author(s). Published by Elsevier Ltd.. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest No author had any conflict of interest to declare.