Environmental influence on the worldwide prevalence of a 776C→G variant in the transcobalamin gene (TCN2)

Journal of Medical Genetics

Volumn 44, Issue 6, 2007, Pages 363-367

  Guéant, Jean Louis ^a   Chabi, Nicodème W ^d   Guéant Rodriguez, Rosa Maria ^a   Mutchinick, Osvaldo M ^b   Debard, Renée ^a   Payet, Corinne ^a   Lu, Xiaohong ^a   Villaume, Christian ^a   Bronowicki, Jean Pierre ^a   Quadros, Edward V ^c   Sanni, Ambaliou ^d   Amouzou, Emile ^e   Xia, Bing ^f   Chen, Min ^f   Anello, Guido ^g   Bosco, Paolo ^g   Romano, Corrado ^g   Arrieta, Heidy R ^b   Sánchez, Beatríz E ^b   Romano, Antonino ^h   Herbeth, Bernard ⁱ   Anwar, Wafaa ^j   Namour, Fares ^a   more..

^a UNIVERSITÉ DE LORRAINE   (France)

^b INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

^c Downstate Health Sciences University   (United States)

^d Universite de Cotonou   (Benin)

^e Laboratory of Biochemistry and Nutrition   (Togo)

^f WUHAN UNIVERSITY   (China)

^g OASI RESEARCH INSTITUTE IRCCS   (Italy)

^h CATHOLIC UNIVERSITY   (Italy)

ⁱ INSERM   (France)

^j Microbiology Laboratory   (Morocco)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYANOCOBALAMIN; HOMOCYSTEINE; TRANSCOBALAMIN II;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; GENE FREQUENCY; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HUMAN; MAJOR CLINICAL STUDY; MALARIA; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; VITAMIN BLOOD LEVEL;

ADULT; CYTOSINE; ENVIRONMENT; GENE FREQUENCY; GENOTYPE; GUANINE; HOMOCYSTEINE; HUMANS; LINKAGE DISEQUILIBRIUM; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; MUTATION; TRANSCOBALAMINS;

EID: 34250715385     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.048041     Document Type: Article

References (30)

1. Zetterberg H. Methylenetetrahydrofolate reductase and transcobalamin genetic polymorphisms in human spontaneous abortion: biological and clinical implications. Reprod Biol Endocrinol 2004;2:7.
2. Fowler B. Homocysteine: overview of biochemistry, molecular biology, and role in disease processes. Semin Vasc Med 2005;5:77-86.
3. Bollander-Gouaille C. Focus on homocysteine and the vitamins involved in its metabolism, 2nd edn. Paris: Spinger-Verlag, 2002.
4. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, den Heijer M, Kluijtmans LAJ, van den Heuve LP, Rozen R. A candidate genetic risk factor far vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-13.
5. Ueland PM, Hustad S, Schneede J, Refsum H, Vollset SE. Biological and clinical implications of the MTHFR C677T polymorphism. Trends Pharmacol Sci 2001;22:195-201.
6. Friso S, Choi SW, Girelli D, Mason JB, Dolnikowski GG, Bagley PJ, Olivieri O, Jacques PF, Rosenberg IH, Corrocher R, Selhub J. A common mutation in the 5,10-methylenetetrahydrofalate reductase gene affects genomic DNA methylation through an interaction in the folate status. Proc Natl Acad Sci USA 2002;99:5606-11.
7. Pepe G, Camacho Vanegas O, Giusti B, Brunelli T, Marcucci R, Attanasio M, Rickards O, De Stefano GF, Prisco D, Gensini GF, Abbate R. Heterogeneity in word distribution of the thermolabile C677T mutation in 5,10-methylenetetrahydrofolate reductase. Am J Hum Genet 1998;63:917-20.
8. Amouzou EK, Chabi NW, Adjalla CE, Rodriguez-Guéant RM, Feillet F, Villaume C, Sanni A, Guéant JL. High prevalence of hyperhomocysteinemia related to folate deficiency and the 677C→T mutation of the gene encoding methylenetetrahydrofolate reductase in coastal West Africa. Am J Clin Nutr 2004;79:619-24.
9. Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund M, Stoll C, Alembic Y, Dott B, Czeizel AE, Gelman-Kohan Z, Scarano G, Bianca S, Ettore G, Tenconi R, Bellato S, Scala I, Mutchinick OM, Lopez MA, de Walle H, Hofstra R, Joutchenko L, Kavteladze L, Bermejo E, Martinez-Frias ML, Gallagher M, Erickson JD, Vollset SE, Mastroiacovo P, Andria G, Botto LD. Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas worldwide. J Med Genet 2003;40:619-25.
10. Munoz-Moran E, Dieguez-Lucena JL, Fernandez-Arcas N, Peran-Mesa S, Reyes-Engel. Genetic selection and folic acid intake during pregnancy. Lancet 1998;352:1120-1.
11. Guéant-Rodriguez RM, Guéant JL, Debard R, Thirion S, Xiao Hong L, Bronowicki JP, Namour F, Chabi NW, Sanni A, Anello G, Bosco P, Romano C, Amouzou E, Heidy R, Arrieta B, Sánchez BE, Romano A, Herbeth B, Guilland JC, Mutchinick OM. Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: a comparative study among Mexican, West African and West European populations. Am J Clin Nutr 2006;83:701-7.
12. Namour F, Guy M, Aimone-Gastin I, de Nonancourt M, Mrabet N, Gueant JL. Isoelectrofocusing phenotype and relative concentration of transcobalamin II isoprotein related to the codon 259 Arg/Pro polymorphism. Biochem Biophys Res Commun 1998;251:769-74.
13. Namour F, Olivier J, Abdelmouttaleh I, Adjalla C, Debard R, Salvat C, Guéant JL. Transcobalamin codon 259 polymorphism in HT-29 and Caco-2 cells and in Caucasians: relation to transcobalamin and homocysteine concentration in blood. Blood 2001;97:1092-8.
14. Miller JW, Ramos MI, Garrod MG, Flynn MA, Greeen R. Transcobalain li 775G>C polymorphism and indices of vitamin B12 status in healthy older adults. Blood 2002;100:718-20.
15. Zetterberg H, Nexo E, Regland B, Minthon L, Boson R, Palmer M, Rymo L, Blennow K. The transcobalamin (TC) codon 259 genetic polymorphism influences holo-TC concentration in cerebrospinal fluid from patients with Alzheimer disease. Clin Chem 2003;49:1195-8.
16. Zetterberg H, Regland B, Palmer M, Rymo L, Zafiropoulos A, Arvanitis DA, Spandidos DA, Blennow K. The transcobalamin codon 259 polymorphism influences the risk of human spontaneous abortion. Hum Reprod 2002;17:3033-6.
17. Zetterberg H, Zafiropoulos A, Spandidos DA, Rymo L, Blennow K. Gene-gene interaction between fetal MTHFR 677C>T and transcobalamin 776C>G polymorphisms in human spontaneous abortion. Hum Reprod 2003;18:1948-50.
18. Martinelli M, Scapoli L, Palmieri A, Pezzetti F, Baciliero U, Padula E, Carinci P, Morselli PG, Carinci F. 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.
19. Bowen RA, Wong BY, Cole DE. Population-based differences in frequency of the transcobalamin II Pro259Arg polymorphism. Clin Biochem 2004;37:128-33.
20. Swanson DA, Pangilinan F, Mills JL, Kirke PN, Conley M, Weiler A, Frey T, Parle-McDermott A, O'Leary VB, Seltzer RR, Moynihan KA, Molloy AM, Burke H, Scott JM, Brody LC. Evaluation of transcobalamin II polymorphisms as neural tube defect risk factors in an Irish population. Birth Defects Res A Clin Mol Teratol 2005;73:239-44.
21. Lievers KJA, Afman LA, Kluitmans LAJ, Boers GH, Verhoef P, den Heijer M, Trijbels FJ, Blom HJ. Polymorphism in the transcobalamin gene: association with plasma homocysteine in healthy individuals and vascular disease patients. Clin Chem 2002;48:1383-9.
22. McCaddon A, Blennow K, Hudson P, Regland B, Hill D. Transcobalamin polymorphism and homocysteine. Blood 2001;98:3497-9.
23. Namour F, Guéant JL. Transcobalamin polymorphism, homocysteine and ageing. Blood 2001;98:3497-9.
24. Afmann LA, Lievers KJ, van der Put NM, Trijbels FJ, Blom HJ. Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects. Eur J Hum Genet 2002;10:433-8.
25. Guéant-Rodriguez RM, Rendeli C, Namour B, Venuti L, Romano A, Anello G, Bosco P, Debard R, Gérard P, Viola M, Salvaggio E, Guéant JL. Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects. Neurosci Lett 2003;344:189-92.
26. Nzila A, Ward SA, Marsh K, Sims P, Hyde JE. Comparative folate metabolism in humans and malaria parasites (part I): pointers for malaria treatment from cancer chemotherapy. Trends Parasitol 2005;21:292- 8.
27. Nzila A, Ward SA, Marsh K, Sims P, Hyde JE. 2005. Comparative folate metabolism in humans and malaria parasites (part II): activities as yet untargeted or specific to Plasmodium. Trends Parasitol 2005;21:334-9.
28. Rosenblatt DS, Fenton W. 2001. Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 3897-933.
29. Wang SJ, Lengeler C, Smith TA, Vounatsou P, Akogbeto M, Tanner M. Rapid Urban Malaria Appraisal (RUMA) IV: epidemiology of urban malaria in Cotonou (Benin). Malaria 2006;5:45-54.
30. Zhou SS, Tang LH, Sheng HF, Wang Y. Malaria situation in the People's Republic of China. Zhongguo Ji Sheng Chong Xue Yu Ji Sheng Chong Bing Za Zhi 2004;24:1-3.