Transcobalamin receptor gene polymorphisms and mutation in an elderly population
Andrew McCaddon1, Daniel F Carr2, Hudson Peter3
1Faculty of Social and Life Sciences, Wrexham Glyndwr University, Wrexham, UK.
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.
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