Gene-gene interaction between fetal MTHFR 677C>T and transcobalamin 776C>G polymorphisms in human spontaneous abortion

Human Reproduction

Volumn 18, Issue 9, 2003, Pages 1948-1950

  Zetterberg, Henrik ^a   Zafiropoulos, Alexis ^b   Spandidos, Demetrios A ^b   Rymo, Lars ^a   Blennow, Kaj ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF CRETE   (Greece)

Author keywords

Folate supplementation; Gene linkage; Gene polymorphism; Homocysteine; Spontaneous abortion

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CYTOSINE; GUANINE; HOMOCYSTEINE; THIAMINE; TRANSCOBALAMIN;

ADULT; AMINO ACID METABOLISM; ARTICLE; BLOOD SAMPLING; CONFIDENCE INTERVAL; CONTROLLED STUDY; EMBRYO; FETUS; GENE INTERACTION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; PATHOGENESIS; PREGNANCY; RISK; SPONTANEOUS ABORTION;

EID: 0042262501     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/deg375     Document Type: Article

References (14)

1. Afman, L.A., Van Der Put, N.M., Thomas, C.M., Trijbels, J.M. and Blom, H.J. (2001) Reduced vitamin B12 binding by transcobalamin II increases the risk of neural tube defects. Q. J. Med., 94, 159-166.
2. Frosst, P., Blom, H.J., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., Boers, G.H.J., Den Heijer, M., Kluijtmans, L.A.J., Van Den Heuvel, L.P. et al. (1995) A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nature Genet., 10, 111-113.
3. Jacques, P.F., Bostom, A.G., Williams, R.R., Ellison, R.C., Eckfeldt, J.H., Rosenberg, I.H., Selhub, J. and Rozen, R. (1996) Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation, 93, 7-9.
4. Mattson, M.P. and Shea, T.B. (2003) Folate and homocysteine metabolism in neural plasticity and neurodegenerative disorders. Trends Neurosci., 26, 137-146.
5. McCaddon, A., Blennow, K., Hudson, P., Regland, B. and Hill, D. (2001) Transcobalamin polymorphism and homocysteine. Blood, 98, 3497-3499.
6. Mills, J.L., McPartlin, J.M., Kirke, P.N., Lee, Y.J., Conley, M.R., Weir, D.G. and Scott, J.M. (1995) Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet, 345, 149-151.
7. Namour, F., Olivier, J., Abdelmouttaleb, I., Adjalla, C., Debard, R., Salvat, C. and Gueant, J. (2001) Transcobalamin codon 259 polymorphism in HT-29 and Caco-2 cells and in Caucasians: Relation to transcobalamin and homocysteine concentration in blood. Blood, 97, 1092-1098.
8. Nelen, W.L., Blom, H.J., Steegers, E.A., Den Heijer, M. and Eskes, T.K. (2000) Hyperhomocysteinemia and recurrent early pregnancy loss: A meta-analysis. Fertil. Steril., 74, 1196-1199.
9. Steegers-Theunissen, R.P., Boers, G.H., Trijbels, F.J. and Eskes, T.K. (1991) Neural-tube defects and derangement of homocysteine metabolism. N. Engl. J. Med., 324, 199-200.
10. Steegers-Theunissen, R.P., Boers, G.H., Blom, H.J., Trijbels, F.J. and Eskes, T.K. (1992) Hyperhomocysteinaemia and recurrent spontaneous abortion or abruptio placentae. Lancet, 339, 1122-1123.
11. Wouters, M.G., Boers, G.H., Blom, H.J., Trijbels, F.J., Thomas, C.M., Borm, G.F., Steegers-Theunissen, R.P. and Eskes, T.K. (1993) Hyperhomocysteinemia: A risk factor in women with unexplained recurrent early pregnancy loss. Fertil. Steril., 60, 820-825.
12. Zetterberg, H., Regland, B., Palmér, M., Ricksten, A., Palmqvist, L., Rymo, L., Arvanitis, D.A., Spandidos, D.A. and Blennow, K. (2002a) Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos. Eur. J. Hum. Genet., 10, 113-118.
13. Zetterberg, H., Regland, B., Palmér, M., Rymo, L., Zafiropoulos, A., Arvanitis, D.A., Spandidos, D.A. and Blennow, K. (2002b) The transcobalamin codon 259 polymorphism influences the risk of human spontaneous abortion. Hum. Reprod., 17, 3033-3036.
14. Zetterberg, H., Palmér, M., Boreström, C., Rymo, L. and Blennow, K. (2003) The transcobalamin codon 259 polymorphism should be designated 776C>G, not 7756G>C. Blood, 101, 3749-3750.