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Transcobalamin receptor gene polymorphisms and mutation in an elderly population.

Author information

Affiliations

  • 1. Faculty of Social and Life Sciences, Wrexham Glyndwr University, Wrexham, UK.
      Authors
    • McCaddon A 1
    (1 author)
  • 2. Department of Pharmacology and Therapeutics, University of Liverpool, UK.
      Authors
    • Carr DF 2
    (1 author)
  • 3. COBALZ Limited, 3 Grove Road, Wrexham, UK.
      Authors
    • Peter H 3
    (1 author)
  • 4. School of Medicine and Department of Medical Biochemistry, Cardiff University, UK.
      Authors
    • Moat SJ 4
    (1 author)
  • 5. Department of Medicine, SUNY Downstate Medical Center, Brooklyn, NY, USA.
      Authors
    • Quadros EV 5
    (1 author)

Clinical Nutrition ESPEN, 02 May 2023, 55:425-427
https://doi.org/10.1016/j.clnesp.2023.04.023 PMID: 37202078 

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.

Full text links 

Read article at publisher's site: https://doi.org/10.1016/j.clnesp.2023.04.023

Read article for free, from open access legal sources, via Unpaywall: http://clinicalnutritionespen.com/article/S240545772300116X/pdfUnpaywall

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Funding 

Funders who supported this work.

Medical Research Council