老年人钴胺素受体基因突变和多态性。
Transcobalamin receptor gene polymorphisms and mutation in an elderly population.
机构信息
Faculty of Social and Life Sciences, Wrexham Glyndwr University, Wrexham, UK.
Department of Pharmacology and Therapeutics, University of Liverpool, UK.
出版信息
Clin Nutr ESPEN. 2023 Jun;55:425-427. doi: 10.1016/j.clnesp.2023.04.023. Epub 2023 May 2.
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.
背景与目的
细胞对必需营养物质维生素 B12（钴胺素）的摄取是通过转钴胺素受体（TCblR/CD320）进行的，这是一种普遍存在的膜受体。该受体存在多态性，但这种变体在患者群体中的影响尚不清楚。
方法
我们在 377 名随机选择的老年人中确定了 CD320 基因型。
结果
在第 2 外显子区域发现了 3 种多态性和 1 种密码子缺失。单倍型变体的全转钴胺素（holo-TC）值明显更高，且 holo-TC/总钴胺素比值更高。TCblR 单倍型解释了 holo-TC 值变异性的 46%。
结论
这对 B12 状态的“综合指标”的临床应用具有重要意义，因为它基于通过 TC-Cbl 受体的细胞内通量的标准速率。可能需要修改模型以解释 CD320 单倍型。
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