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Prepublished online as a Blood First Edition Paper on April 17, 2002; DOI 10.1182/blood-2002-01-0209.

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Submitted January 25, 2002
Accepted March 9, 2002

Transcobalamin II G775C Polymorphism and Indices of Vitamin B12 Status in Healthy Older Adults

Joshua W Miller*, Marisa I Ramos, Marjorie G Garrod, Margaret A Flynn, and Ralph Green

Medical Pathology, University of California, Davis, School of Medicine, Sacramento, CA, USA
Nutrition, University of California, Davis, Davis, CA, USA
Family and Community Medicine, University of Missouri, Columbia, School of Medicine, Columbia, MO, USA

* Corresponding author; email: jwmiller{at}ucdavis.edu.

A common polymorphism (G775C) in the vitamin B12 transport protein, transcobalamin II (TCII), has been identified in which proline replaces arginine at codon 259. We determined the influence of TCII genotype on indices of B12 status, including total serum B12, the amount of B12 bound to TCII (holoTCII), methylmalonic acid, and homocysteine, in 128 healthy older adults (age 40-88y). Mean total B12 and homocysteine concentrations were not significantly different among the three genotypes. Mean holoTCII concentration was significantly higher in those subjects homozygous for the proline form of TCII (PP) compared with those homozygous for the arginine form (RR) and heterozygotes (PR) (p<=0.006). In addition, mean methylmalonic acid concentrations were significantly lower in the PP and PR groups compared with the RR group (p<=0.02). The PP genotype may be more efficient in delivering B12 to tissues resulting in enhanced B12 functional status. TCII genotype may thus influence susceptibility to B12 deficiency.


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Related Letter in Blood Online:

The transcobalamin codon 259 polymorphism should be designated 776C>G, not 775G>C
Henrik Zetterberg, Mona Palmér, Cecilia Boreström, Lars Rymo, Kaj Blennow, Joshua W. Miller, and Ralph Green
Blood 2003 101: 3749-3750. [Full Text] [PDF]



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