The TCN2 776C>G polymorphism correlates with vitamin B12 cellular delivery in healthy adult populations

Clinical Biochemistry

Volumn 43, Issue 7-8, 2010, Pages 645-649

  Castro, Rita ^a   Barroso, Madalena ^a   Rocha, Mónica ^a   Esse, Ruben ^a   Ramos, Ruben ^a   Ravasco, Paula ^b   Rivera, Isabel ^a   de Almeida, Isabel Tavares ^a  

^a RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

^b INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

Author keywords

Homocysteine; Transcobalamin polymorphism; Vitamin B12 delivery

Indexed keywords

CYANOCOBALAMIN; FOLIC ACID; GENOMIC DNA; HOMOCYSTEINE; TRANSCOBALAMIN II; TRANSCOBALAMIN;

ADULT; ARTICLE; BIOCHEMISTRY; ERYTHROCYTE; FEMALE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; MALE; POLYMERASE CHAIN REACTION; PORTUGAL; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCREENING; GENETICS; GENOTYPE; METABOLISM; MIDDLE AGED; PHENOTYPE;

ADULT; FEMALE; FOLIC ACID; GENOTYPE; HOMOCYSTEINE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, GENETIC; TRANSCOBALAMINS; VITAMIN B 12;

EID: 77951207405     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2010.01.015     Document Type: Article

References (33)

1. Depeint F., Bruce W.R., Shangari N., Mehta R., O'Brien P.J. Mitochondrial function and toxicity: role of B vitamins on the one-carbon transfer pathways. Chem. Biol. Interact. 2006, 163:113-132.
2. Castro R., Rivera I., Blom H.J., Jakobs C., Tavares de Almeida I. Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview. J. Inherit. Metab. Dis. 2006, 29:3-20.
3. Chambers J.C., Seddon M.D., Shah S., Kooner J.S. Homocysteine-a novel risk factor for vascular disease. J. R. Soc. Med. 2001, 94:10-13.
4. Seshadri S., Beiser A., Selhub J., et al. Plasma homocysteine as a risk factor for dementia and Alzheimer's disease. N. Engl. J. Med. 2002, 346:476-483.
5. Pons L., Guy M., Lambert D., Hatier R., Gueant J. Transcytosis and coenzymatic conversion of [(57)Co]cobalamin bound to either endogenous transcobalamin II or exogenous intrinsic factor in caco-2 cells. Cell. Physiol. Biochem. 2000, 10:135-148.
6. Herrmann W., Obeid R. Causes and early diagnosis of vitamin B12 deficiency. Dtsch. Arztebl. Int. 2008, 105:680-685.
7. Banerjee R. B12 trafficking in mammals: a case for coenzyme escort service. ACS Chem. Biol. 2006, 1:149-159.
8. Banerjee R., Gherasim C., Padovani D. The tinker, tailor, soldier in intracellular B12 trafficking. Curr. Opin. Chem. Biol. 2009, 13:484-491.
9. Rothenberg S.P., Quadros E.V. Transcobalamin II and the membrane receptor for the transcobalamin II-cobalamin complex. Baillieres Clin. Haematol. 1995, 8:499-514.
10. Hvas A.M., Nexo E. Diagnosis and treatment of vitamin B12 deficiency. An update. Haematologica 2006, 91:1506-1512.
11. Regec A., Quadros E.V., Platica O., Rothenberg S.P. The cloning and characterization of the human transcobalamin II gene. Blood 1995, 85:2711-2719.
12. Lievers K.J., Afman L.A., Kluijtmans L.A., et al. Polymorphisms in the transcobalamin gene: association with plasma homocysteine in healthy individuals and vascular disease patients. Clin. Chem. 2002, 48:1383-1389.
13. von Castel-Dunwoody K.M., Kauwell G.P., Shelnutt K.P., et al. Transcobalamin 776C- > G polymorphism negatively affects vitamin B-12 metabolism. Am. J. Clin. Nutr. 2005, 81:1436-1441.
14. Afman L.A., Van Der Put N.M., Thomas C.M., Trijbels J.M., Blom H.J. Reduced vitamin B12 binding by transcobalamin II increases the risk of neural tube defects. QJM 2001, 94:159-166.
15. Miller J.W., Ramos M.I., Garrod M.G., Flynn M.A., Green R. Transcobalamin II 775G > C polymorphism and indices of vitamin B12 status in healthy older adults. Blood 2002, 100:718-720.
16. Afman L.A., Lievers K.J., van der Put N.M., Trijbels F.J., Blom H.J. Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects. Eur. J. Hum. Genet. 2002, 10:433-438.
17. Fodinger M., Veitl M., Skoupy S., et al. Effect of TCN2 776C > G on vitamin B12 cellular availability in end-stage renal disease patients. Kidney Int. 2003, 64:1095-1100.
18. Namour F., Guy M., Aimone-Gastin I., de Nonancourt M., Mrabet N., Gueant J.L. Isoelectrofocusing phenotype and relative concentration of transcobalamin II isoproteins related to the codon 259 Arg/Pro polymorphism. Biochem. Biophys. Res. Commun. 1998, 251:769-774.
19. Namour F., Olivier J., Abdelmouttaleb I., et al. Transcobalamin codon 259 polymorphism in HT-29 and Caco-2 cells and in Caucasians: relation to transcobalamin and homocysteine concentration in blood. Blood 2001, 97:1092-1098.
20. Martinelli M., Scapoli L., Palmieri A., et al. Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate. Hum. Mutat. 2006, 27:294.
21. Zetterberg H., Regland B., Palmer M., et al. The transcobalamin codon 259 polymorphism influences the risk of human spontaneous abortion. Hum. Reprod. 2002, 17:3033-3036.
22. Zetterberg H., Zafiropoulos A., Spandidos D.A., Rymo L., Blennow K. Gene-gene interaction between fetal MTHFR 677C > T and transcobalamin 776C > G polymorphisms in human spontaneous abortion. Hum. Reprod. 2003, 18:1948-1950.
23. Castro R., Rivera I., Ravasco P., et al. "5,10-Methylenetetrahydrofolate reductase 677C > T and 1298A > C mutations are genetic determinants of elevated homocysteine". QJM 2003, 96:297-303.
24. Castro R., Rivera I., Struys E.A., et al. "Elevated homocysteine and S-adenosylhomocysteine, and DNA hypomethylation in vascular disease. Clin. Chem. 2003, 49:1292-1296.
25. Castro R., Rivera I., Ravasco P., et al. Genomic DNA methylation and 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C > T and 1298A > C mutations. J. Med. Genet. 2004, 41:454-458.
26. Castro R., Rivera I., Martins C., et al. Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC. J. Mol. Med. 2005, 83:831-836.
27. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988, 16:1215.
28. Leadon S.A., Cerutti P.A. A rapid and mild procedure for the isolation of DNA from mammalian cells. Anal. Biochem. 1982, 120:282-288.
29. Gueant J.L., Chabi N.W., Gueant-Rodriguez R.M., et al. Environmental influence on the worldwide prevalence of a 776C- > G variant in the transcobalamin gene (TCN2). J. Med. Genet. 2007, 44:363-367.
30. Zetterberg H., Palmer M., Borestrom C., Rymo L., Blennow K. The transcobalamin codon 259 polymorphism should be designated 776C > G, not 775G > C. Blood 2003, 101:3749-3750. author reply 3750-3741.
31. Bowen R.A., Wong B.Y., Cole D.E. Population-based differences in frequency of the transcobalamin II Pro259Arg polymorphism. Clin. Biochem. 2004, 37:128-133.
32. Alessio A.C., Hoehr N.F., Siqueira L.H., Bydlowski S.P., Annichino-Bizzacchi J.M. Polymorphism C776G in the transcobalamin II gene and homocysteine, folate and vitamin B12 concentrations. Association with MTHFR C677T and A1298C and MTRR A66G polymorphisms in healthy children. Thromb. Res. 2007, 119:571-577.
33. Wuerges J., Garau G., Geremia S., Fedosov S.N., Petersen T.E., Randaccio L. Structural basis for mammalian vitamin B12 transport by transcobalamin. Proc. Natl. Acad. Sci. U. S. A. 2006, 103:4386-4391.