A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects?

American Journal of Human Genetics

Volumn 62, Issue 5, 1998, Pages 1044-1051

  Van Der Put, Nathalie M J ^a   Gabreëls, Fons ^a   Stevens, Erik M B ^a   Smeitink, Jan A M ^a   Trijbels, Frans J M ^a   Eskes, Tom K A B ^a   Van Den Heuvel, Lambert P ^a   Blom, Henk J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ADENINE; ALANINE; AMINO ACID; CYANOCOBALAMIN; CYTOSINE; FOLIC ACID; GLUTAMIC ACID; HOMOCYSTEINE; PYRIDOXINE; THYMINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CONTROLLED STUDY; ENZYME ACTIVITY; GENE FREQUENCY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; NEURAL TUBE DEFECT; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; RISK FACTOR;

EID: 0031971515     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301825     Document Type: Article

References (26)

1. Copp AJ, Brook FA, Estibeiro JP, Shum ASW, Cockroft DL (1990) The embryonic development of mammalian neural tube defects. Progr Neurobiol 35:363-403
2. Czeizel AE, Dudas I (1992) Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832-1835
3. den Heijer M, Blom HJ, Gerrits WBJ, Rosendaal FR, Haak HL, Wijermans PW, Bos GMJ (1995) Is hyperhomocysteinaemia a risk factor for recurrent venous thrombosis? Lancet 345: 882-885
4. Engbersen AMT, Franken DG, Boers GHJ, Stevens EMB, Trijbels FJM, Blom HJ (1995) Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet 56:142-150
5. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, et al (1995) A candidate genetic risk factor for vascular disease: a common mutation methylenetetrahydrofolate reductase. Nat Genet 10:111-113
6. Kang S-S, Zhou J, Wong PWK, Kowalisyn J, Strokosch G (1988) Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet 43:414-421
7. Kirke PN, Molley AM, Daly LE, Burke H, Weir DG, Scott JM (1993) Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects. Q J Med 86: 703-708
8. Malinow MR, Nieto FJ, Kruger WD, Duell PB, Hess DL, Gluckman RA, Block PC, et al (1997) The effects of folic acid supplementation on plasma total homocysteine are modulated by multivitamin use and methylenetetrahydrofolate reductase genotypes. Arterioscler Thromb Vascul Biol 17:1157-1162
9. Mills JL, McPartlin JM, Kirke PN, Lee YJ, Conley MR, Weir DG, Scott JM (1995) Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet 345: 149-151
10. Molloy AM, Daly S, Mills JL, Kirke PN, Whitehead AS, Ramsbottom D, Conley MR et al (1997) Thermolabile variant of 5,10-methylenetetrahydrofolate reductase associated with low red-cell folates: implications for folate intake recommendations. Lancet 349:1591-1593
11. Molloy AM, Mills JL, Kirke PN, Whitehead AS, Weir DG, Scott JM (1998) Whole-blood folate values in subjects with different methylenetetrahydrofolate reductase genotypes: differences between the radioassay and microbiological assays. Clin Chem 44:186-188
12. Morris JA, Gardner MJ (1989) Calculating confidence for relative risks, odds, and standardised ratios and rates. In: Gardner MJ, Altman DG (eds) Statistics with confidence. British Medical Journal, London, pp 50-63
13. MRC Vitamin Study Research Group (1991) Prevention of neural tube defects: results of the medical research council vitamin study. Lancet 338:131-137
14. Ou CY, Stevenson RF, Brown VK, Schwartz CE, Allen WP, Khoury M, Oakley GP, et al (1995) C677T homozygosity associated with thermolabile 5,10-methylenetetrahydrofolate reductase as a risk factor for neural tube defects. Am J Hum Genet Suppl 57:A223
15. Ramsbottom D, Scott JM, Weir DG, Kirke PN, Mills JL, Gallagher PM, Whitehead AS (1997) Are common mutations of cystathionine β-synthase involved in the aetiology of neural tube defects? Clin Genet 51:39-42
16. Steegers-Theunissen RPM, Boers GHJ, Trijbels FJM, Finkelstein JD, Blom HJ, Thomas CMG, Borm GF, et al (1994) Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism 43:1475-1480
17. TePoele-Pothoff MTWB, VanDenBerg M, Franken DG, Boers GHJ, Jakobs C, DeKroon IFI, Eskes TKAB, et al (1995) Three different methods for the determination of total homocysteine in plasma. Ann Clin Biochem 32:218-220
18. van der Put NMJ, Eskes TKAB, Blom HJ (1997a) Is the common 677CT mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? a meta-analysis Q J Med 90:111-115
19. van der Put NMJ, Steegers-Theunissen RPM, Frosst P, Trijbels FJM, Eskes TKAB, van den Heuvel LP, Mariman ECM, et al (1995) Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346:1071-1072
20. van der Put NMJ, Thomas CMG, Eskes TKAB, Trijbels FJM, Steegers-Theunissen RPM, Mariman ECM, de Graaf-Hess A, et al (1997b) Altered folate and vitamin B12 metabolism in families with spina bifida offspring. Q J Med 90: 505-510
21. van der Put NMJ, Trijbels FJM, Hol F, Eskes TKAB, Steegers-Theunissen RPM, van den Heuvel LPWJ, Mariman ECM et al (1996a) Mutated methylenetetrahydrofolate reductase in sporadic and hereditary spina bifida offspring. In: Mato JM, Caballero A (eds) Proceedings of III Workshop on Methionine Metabolism, Molecular Mechanism and Clinical Implications. Consejo Superior de Investigaciones Cientificas, Madrid, pp 186-191
22. van der Put NMJ, van den Heuvel LP, Steegers-Theunissen RPM, Trijbels FJM, Eskes TKAB, Mariman ECM, den Heyer M, et al (1996b) Decreased methylenetetrahydrofolate reductase function due to the 677CT mutation in families with spina bifida offspring. J Mol Med 74:691-694
23. van der Put NMJ, van der Molen EF, Kluijtmans LAJ, Heil SG, Trijbels FJM, Eskes TKAB, van Oppenraaij-Emmerzaal D, et al (1997c) Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease. Q J Med 90:511-517
24. Verhoef P (1996). Homocysteine, B-vitamins and cardiovascular disease: epidemiological evidence. PhD thesis, Wageningen Agricultural University, The Netherlands
25. Viel A, Dall-Agnese L, Simone F, Canzonieri V, Capozzi E, Visentin MC, Valle R, et al et al (1997) Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas. Br J Cancer 75:1105-1110
26. Whitehead AS, Gallagher P, Mills JL, Kirke PN, Burke H, Molloy AM, Weir DG, et al (1995). A genetic defect in the 5,10-methylenetetrahydrofolate reductase in neural tube defects. Q J Med 88:763-766