Methionine synthase reductase 66A→G polymorphism is associated with increased plasma homocysteine concentration when combined with the homozygous methylenetetrahydrofolate reductase 677C→T variant

Journal of Nutrition

Volumn 134, Issue 11, 2004, Pages 2985-2990

  Vaughn, Jaimie D ^a   Bailey, Lynn B ^a   Shelnutt, Karla P ^a   Von Castel Dunwoody, Kristina M ^a   Maneval, David R ^a   Davis, Steven R ^a   Quinlivan, Eoin P ^a   Gregory III, Jesse F ^a   Theriaque, Douglas W ^b   Kauwell, Gail P A ^a  

^a UNIVERSITY OF FLORIDA   (United States)

^b UNIVERSITY OF FLORIDA   (United States)

Author keywords

Folate; Genetic polymorphisms; Homocysteine; Vitamin B 12

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ARGININE; CYANOCOBALAMIN; CYTOSINE; FOLIC ACID; GLYCINE; HOMOCYSTEINE; METHIONINE SYNTHASE; METHIONINE SYNTHASE REDUCTASE; TYROSINE; UNCLASSIFIED DRUG;

CONFERENCE PAPER; CORRELATION ANALYSIS; DISEASE EXACERBATION; ENZYME POLYMORPHISM; FEMALE; FOLIC ACID BLOOD LEVEL; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN EXPERIMENT; NORMAL HUMAN; POPULATION RISK; PREDICTION; PROTEIN BLOOD LEVEL; PROTEIN METHYLATION; REPRODUCTION; RISK ASSESSMENT; STATISTICAL ANALYSIS; VITAMIN BLOOD LEVEL;

EID: 7944239638     PISSN: 00223166     EISSN: None     Source Type: Journal    
DOI: 10.1093/jn/134.11.2985     Document Type: Conference Paper

References (30)

1. Frosst, P., Blom, H. J., Milos, R., Goyette, P., Sheppard, C. A., Matthews, R. G., Boers, G. J., den Heijer, M., Kluijtmans, L. A., van den Heuvel, L. P., et al. (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat. Genet. 10: 111-113.
2. Shields, D. C., Kirke, P. N., Mills, J. L., Ramsbottom, D., Molloy, A. M., Burke, H., Weir, D. G., Scott, J. M. & Whitehead, A. S. (1999) The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother. Am. J. Hum. Genet. 64: 1045-1055.
3. Sohda, S., Arinami, T., Hamada, H., Yamada, N., Hamaguchi, H. & Kubo, T. (1997) Methylenetetrahydrofolate reductase polymorphism and preeclampsia. J. Med. Genet. 34: 525-526.
4. Lissak, A., Sharon, A., Fruchter, O., Kassel, A., Sanderovitz, J. & Abramovici, H. (1999) Polymorphism for mutation of cytosine to thymine at location 677 in the methylenetetrahydrofolate reductase gene is associated with recurrent early fetal loss. Am. J. Obstet. Gynecol. 181: 126-130.
5. van der Put, N. M., Gabreels, F., Stevens, E. M., Smeitink, J. A., Trijbels, F. J., Eskes, T. K., van den Heuvel, L. P. & Blom, H. J. (1998) A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am. J. Hum. Genet. 62: 1044-1051.
6. Weisberg, I., Tran, P., Christensen, B., Sibani, S. & Rozen, R. (1998) A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol. Genet. Metab. 64: 169-172.
7. Leclerc, D., Wilson, A., Dumas, R., Gafuik, C., Song, D., Watkins, D., Heng, H. H., Rommens, J. M., Scherer, S. W., Rosenblatt, D. S. & Gravel, R. A. (1998) Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc. Natl. Acad. Sci. U.S.A. 95: 3059-3064.
8. Fujii, K., Galivan, J. H. & Huennekens, F. M. (1977) Activation of methionine synthase: further characterization of flavoprotein system. Arch. Biochem. Biophys. 178: 662-670.
9. Wilson, A., Platt, R., Wu, Q., Leclerc, D., Christensen, B., Yang, H., Gravel, R. A. & Rozen, R. (1999) A common variant in methionine synthase reductase combined with low cobalamin (vitamin B-12) increases risk forspina bifida. Mol. Genet. Metab. 67: 317-323.
10. Gaughan, D. J., Kluijtmans, L.A.J., Barbaux, S., McMaster, D., Young, I. S., Yarnell, J.W.G., Evans, A. & Whitehead, A. S. (2001) The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations. Atherosclerosis 157: 451-456.
11. Brilakis, E. S., Berger, P. B., Ballman, K. V. & Rozen, R. (2003) Methylenetetrahydrofolate reductase (MTHFR) 677C→T and methionine synthase reductase (MTRR) 66A→G polymorphisms: association with serum homocysteine and angiographic coronary artery disease in the era of flour products fortified with folic acid. Atherosclerosis 168: 315-322.
12. Zhu, H., Wicker, N. J., Shaw, G. M., Lammer, E. J., Hendricks, K., Suarez, L., Canfield, M. & Finnell, R. H. (2003) Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects. Mol. Genet. Metab. 78: 216-221.
13. Gueant-Rodriguez, R. M., Rendeli, C., Namour, B., Venuti, L., Romano, A., Anello, G., Bosco, P., Debard, R., Gerard, P., Viola, M., Salvaggio, E. & Gueant, J. L. (2003) Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans. Neurosci. Lett. 344: 189-192.
14. Jacques, P. F., Bostom, A. G., Williams, R. R., Ellison, R. C., Eckfeldt, J. H., Rosenberg, I. H., Selhub, J. & Rozen, R. (1996) Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 93: 7-9.
15. Weisberg, I. S., Jacques, P. F., Selhub, J., Bostom, A. G., Chen, Z., Curtis Ellison, R., Eckfeldt, J. H. & Rozen, R. (2001 ) The 1298A→C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine. Atherosclerosis 156: 409-415.
16. Bailey, L. B., Duhaney, R. L., Maneval, D. R., Kauwell, G. P., Quinlivan, E. P., Davis, S. R., Cuadras, A., Hutson, A. D. & Gregory, J. F. (2002) Vitamin B-12 status is inversely associated with plasma homocysteine in young women with C677T and/or A1298C methylenetetrahydrofolate reductase polymorphisms. J. Nutr. 132: 1872-1878.
17. Tamura, T. (1990) Microbiological assay of folate. In: Folic Acid Metabolism in Health and Disease (Picciano, M. F., Stokstad, E. R. & Gregory, J. F., eds.), pp. 121-137. Wiley-Liss, New York, NY.
18. Home, D. W. & Patterson, D. (1988) Lactobacillus casei microbiological assay of folic acid derivatives in 96-well microtiter plates. Clin. Chem. 34: 2357-2359.
19. Pfeiffer, C. M., Huff, D. L. & Gunter, E. W. (1999) Rapid and accurate HPLC assay for plasma total homocysteine and cysteine in a clinical laboratory setting. Clin. Chem. 45: 290-292.
20. Yi, P., Pogribny, I. P. & Jill James, S. (2002) Multiplex PCR for simultaneous detection of 677 C→T and 1298 A→C polymorphisms in methylenetetrahydrofolate reductase gene for population studies of cancer risk. Cancer Lett. 181: 209-213.
21. Ulvik, A. & Ueland, P. M. (2001) Single nucleotide polymorphism (SNP) genotyping in unprocessed whole blood and serum by real-time PCR: application to SNPs affecting homocysteine and folate metabolism. Clin. Chem. 47: 2050-2053.
22. Lindenbaum, J. & Allen, R. (1995) Clinical spectrum and diagnosis of folate deficiency. In: Folate in Health and Disease (Bailey, L., ed.), pp. 43-73. Marcel Dekker, New York, NY.
23. Kauwell, G. P., Wilsky, C. E., Cerda, J. J., Herrlinger-Garcia, K., Hutson, A. D., Theriaque, D. W., Boddie, A., Rampersaud, G. C. & Bailey, L. B. (2000) Methylenetetrahydrofolate reductase mutation (677C→T) negatively influences plasma homocysteine response to marginal folate intake in elderly women. Metabolism 49: 1440-1443.
24. Shelnutt, K. P., Kauwell, G. P., Chapman, C. M., Gregory, J. F., Maneval, D. R., Browdy, A. A., Theriaque, D. W. & Bailey, L. B. (2003) Folate status response to controlled folate intake is affected by the methylenetetrahydrofolate reductase 677C→T polymorphism in young women. J. Nutr. 133: 4107-4111.
25. Barr, S. I. & Broughton, T. M. (2000) Relative weight, weight loss efforts and nutrient intakes among health-conscious vegetarian, past vegetarian and nonvegetarian women ages 18 to 50. J. Am. Coll. Nutr. 19: 781-788.
26. Steegers-Theunissen, R. P., Boers, G. H., Blom, H. J., Nijhuis, J. G., Thomas, C. M., Borm, G. F. & Eskes, T. K. (1995) Neural tube defects and elevated homocysteine levels in amniotic fluid. Am. J. Obstet. Gynecol. 172: 1436-1441.
27. Kluijtmans, L. A., Young, I. S., Boreham, C. A., Murray, L., McMaster, D., McNulty, H., Strain, J. J., McPartlin, J., Scott, J. M. & Whitehead, A. S. (2003) Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults. Blood 101: 2483-2488.
28. Jacques, P. F., Bostom, A. G., Selhub, J., Rich, S., Ellison, R. C., Eckfeldt, J. H., Gravel, R. A. & Rozen, R. (2003) Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study. Atherosclerosis 166: 49-55.
29. Yamada, K., Chen, Z., Rozen, R. & Matthews, R. G. (2001) Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase. Proc. Natl. Acad. Sci. U.S.A. 98: 14853-14858.
30. Doolin, M. T., Barbaux, S., McDonnell, M., Hoess, K., Whitehead, A. S. & Mitchell, L. E. (2002) Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Am. J. Hum. Genet. 71: 1222-1226.