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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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Blood, 15 July 2002, Vol. 100, No. 2, pp. 718-720
BRIEF REPORT
Transcobalamin II 775G>C 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
From the Departments of Medical Pathology and
Nutrition, School of Medicine, University of California, Davis, and the
Department of Family and Community Medicine, School of Medicine,
University of Missouri, Columbia.
A common polymorphism (775G>C) 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 (ages 40-88 years). Mean
total B12 and homocysteine concentrations were not significantly
different among the 3 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 .006). In addition, mean
methylmalonic acid concentrations were significantly lower in the PP
and PR groups compared with the RR group (P .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:
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The transcobalamin codon 259 polymorphism should be designated 776C>G, not 775G>C
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