Spina bifida and folate-related genes: A study of gene-gene interactions

Genetics in Medicine

Volumn 4, Issue 3, 2002, Pages 126-130

  De Franchis, Raffaella ^a   Botto, Lorenzo D ^b   Sebastio, Gianfranco ^a   Ricci, Roberta ^c   Iolascon, Achille ^d   Capra, Valeria ^e   Andria, Generoso ^a   Mastroiacovo, Pierpaolo ^c  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

^c CATHOLIC UNIVERSITY   (Italy)

^d UNIVERSITY OF BARI   (Italy)

^e G GASLINI INSTITUTE   (Italy)

Author keywords

Epidemiology; Folate; Genetics; Interaction; Spina bifida

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; FOLIC ACID; METHYLENETETRAHYDROFOLIC ACID; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OXIDOREDUCTASE;

ALLELE; ARTICLE; CASE CONTROL STUDY; CHILD; CONTROLLED STUDY; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HOMOZYGOSITY; HUMAN; JOINT; MAJOR CLINICAL STUDY; SPINA BIFIDA; GENETIC LINKAGE; GENETICS; INFANT; METABOLISM; MUTATION; NEURAL TUBE DEFECT; PRESCHOOL CHILD;

ALLELES; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CYSTATHIONINE BETA-SYNTHASE; FOLIC ACID; HUMANS; INFANT; LOD SCORE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; SPINAL DYSRAPHISM;

EID: 0012739367     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200205000-00005     Document Type: Article

References (54)

1. Mastroiacovo PP, Bianchi F. [The descriptive epidemiology of congenital defects at birth in Italy]. Epidemiol Prev 1991;13:94-103.
2. Moore CA, Li S, Li Z, Hong SX, Gu HQ, Berry RJ, Mulinare I, Erickson JD. Elevated rates of severe neural tube defects in a high-prevalence area in northern China. Am J Med Genet 1997;73:113-118.
3. Shibuya K, Murray CJL. Congenital anomalies. In: Murray CJL, Lopez AD, eds. Boston: Harvard University Press, 1998:455-512.
4. Elwood JM, Little J, Elwood JH. Epidemiology and control of neural tube defects. New York: Oxford University Press, 1992.
5. Botto LD, Moore CA, Khoury MJ, Erickson JD. Medical progress: neural-tube defects [review]. N Engl J Med 1999;341:1509-1519.
6. Czeizel AE, Dudas I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 1992;327:1832-1835.
7. MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 1991;338:131-137.
8. Berry RJ, Li Z, Erickson JD, Li S, Moore CA, Wang H, Mulinare J, Zhao P, Wong LY, Gindler J, Hong SX, Correa A. Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention. N Engl J Med 1999;341:1485-1490.
9. Botto LD, Yang Q. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 2000;151:862-877.
10. Sebastio G, Sperandeo MP, Panico M, de Franchis R, Kraus JP, Andria G. The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. Am J Hum Genet 1995;56:1324-1333.
11. Ramsbottom D, Scott JM, Molloy A, Weir DG, Kirke PN, Mills JL, Gallagher PM, Whitehead AS. Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects? Clin Genet 1997;51:39-42.
12. Botto LD, Mastroiacovo P. Exploring gene-gene interactions in the etiology of neural tube defects. Clin Genet 1998;53:456-459.
13. Whitehead AS, Molloy AM, Ramsbottom D, Weir DG, Kirke PN, Mills JL, Gallagher PM, Scott JM. Gene-gene interactions and neural tube defects [letter]. Clin Genet 1999;55:133-134.
14. Richter B, Stegmann K, Roper B, Boddeker I, Ngo ET, Koch MC. Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population. J Hum Genet 2001;46:105-109.
15. Speer MC, Nye J, McLone D, Worley G, Melvin EC, Viles KD, Franklin A, Drake C, Mackey J, George TM. Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group. Clin Genet 1999;56:142-144.
16. de Franchis R, Mandato C, Buoninconti A, Sperandeo MP, Capra V, De Marco P, et al. Risk factors for neural tube defects: analysis of common genetic variants of methylenetetrahydrofolate reductase and cystathionine beta-synthase [abstract]. Am J Hum Genet 1997;61:151.
17. de Franchis R, Buoninconti A, Mandato C, Pepe A, Sperandeo MP, Del Gado R, Capra V, Salvaggio E, Andria G, Mastroiacovo P. The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy. J Med Genet 1998;35:1009-1013.
18. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase [letter]. Nat Genet 1995;10:111-113.
19. Sperandeo MP, de Franchis R, Andria G, Sebastio G. A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta- synthase mRNA [letter]. Am J Hum Genet 1996;59:1391-1393.
20. Botto LD, Khoury MJ. Facing the challenge of gene-environment interaction: the two-by-four table and beyond. Am J Epidemiol 2001;153:1016-1020.
21. Khoury MJ, Adams MJ Jr, Flanders WD. An epidemiologic approach to ecogenetics. Am J Hum Genet 1988;42:89-95.
22. Miettinen OS. Proportion of disease caused or prevented by a given exposure, trait or intervention. Am J Epidemiol 1974;99:325-332.
23. Rothman KJ, Greenland S. Modern epidemiology. 2nd ed. Philadelphia: Lippincott-Raven, 1998.
24. Efron B, Tibshirani RJ. An introduction to the bootstrap. New York: Chapman & Hall, 1993.
25. Assmann SF, Hosmer DW, Lemeshow S, Mundt KA. Confidence intervals for measures of interaction. Epidemiology 1996;7:286-290.
26. Posey DL, Khoury MJ, Mulinare J, Adams MJ Jr, Ou CY. Is mutated MTHFR a risk factor for neural tube defects? [letter]. Lancet 1996;347:686-687.
27. Heijmans BT, Gussekloo J, Kluft C, Droog S, Lagaay AM, Knook DL, Westendorp RG, Slagboom EP. Mortality risk in men is associated with a common mutation in the methylene-tetrahydrofolate reductase gene (MTHFR). Eur J Hum Genet 1999;7: 197-204.
28. Matsushita S, Muramatsu T, Arai H, Matsui T, Higuchi S. The frequency of the methylenetetrahydrofolate reductase-gene mutation varies with age in the normal population [letter]. Am J Hum Genet 1997;61:1459-1460.
29. Ames PR, Tommasino C, D'Andrea G, Iannaccone L, Brancaccio V, Margaglione M. Thrombophilic genotypes in subjects with idiopathic antiphospholipid antibodies-prevalence and significance. Thromb Haemost 1998;79:46-49.
30. Cattaneo M, Tsai MY, Bucciarelli P, Taioli E, Zighetti ML, Bignell M, Mannucci PM. A common mutation in the methylenetetrahydrofolate reductase gene (C677T) increases the risk for deep-vein thrombosis in patients with mutant factor V (factor V:Q506). Arterioscler Thromb Vasc Biol 1997;17:1662-1666.
31. de Franchis R, Mancini FP, D'Angelo A, Sebastio G, Fermo I, de Stefano V, Margaglione M, Mazzola G, di Minno G, Andria G. Elevated total plasma homocysteine and 677C→T mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease [letter]. Am J Hum Genet 1996;59:262-264.
32. Girelli D, Friso S, Trabetti E, Olivieri O, Russo C, Pessotto R, Faccini G, Pignatti PF, Mazzucco A, Corrocher R. Methylenetetrahydrofolate reductase C677T mutation, plasma homocysteine, and folate in subjects from northern Italy with or without angiographically documented severe coronary atherosclerotic disease: evidence for an important genetic-environmental interaction. Blood 1998;91:4158-4163.
33. Grandone E, Margaglione M, Colaizzo D, Montanaro S, Pavone G, Di Minno G. Presence of FV Leiden and MTHFR mutation in a patient with complicated pregnancies [letter]. Thromb Haemost 1997;77:1036-1037.
34. Margaglione M, D'Andrea G, d'Addedda M, Giuliani N, Cappucci G, Iannaccone L, Vecchione G, Grandone E, Brancaccio V, Di Minno G. The methylenetetrahydrofolate reductase TT677 genotype is associated with venous thrombosis independently of the coexistence of the FV Leiden and the prothrombin A20210 mutation. Thromb Haemost 1998;79:907-911.
35. Sacchi E, Tagliabue L, Duca F, Mannucci PM. High frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in Northern Italy [letter]. Thromb Haemost 1997;78:963-964.
36. Tosetto A, Missiaglia E, Frezzato M, Rodeghiero F. The VITA project. C677T mutation in the methylene-tetrahydrofolate reductase gene and risk of venous thromboembolism. Br J Haematol 1997;97:804-806.
37. Abbate R, Sardi I, Pepe G, Marcucci R, Brunelli T, Prisco D, Fatini C, Capanni M, Simonetti I, Gensini GF. The high prevalence of thermolabile 5-10 methylenetetrahydrofolate reductase (MTHFR) in Italians is not associated to an increased risk for coronary artery disease (CAD). Thromb Haemost 1998;79:727-730.
38. Motti C, Gnasso A, Bernardini S, Massoud R, Pastore A, Rampa P, Federici G, Cortese C. Common mutation in methylenetetrahydrofolate reductase. Correlation with homocysteine and other risk factors for vascular disease. Atherosclerosis 1998;139:377-383.
39. Yang Q, Khoury MJ. Evolving methods in genetic epidemiology. III. Gene-environment interaction in epidemiologic research. Epidemiol Rev 1997;19:33-43.
40. Rosenblatt DS. Inherited disorders of folate transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw Hill, 1995:3111-3128.
41. Quere I, Paul V, Rouillac C, Janbon C, London J, Demaille J, Kamoun P, Dufier JL, Abitbol M, Chasse JF. Spatial and temporal expression of the cystathionine beta-synthase gene during early human development. Biochem Biophys Res Commun 1999;254:127-137.
42. Aras O, Hanson NQ, Yang F, Tsai MY. Influence of 699C→T and 1080C→T polymorphisms of the cystathionine beta-synthase gene on plasma homocysteine levels. Clin Genet 2000;58:455-459.
43. Tsai MY, Yang F, Bignell M, Aras O, Hanson NQ. Relation between plasma homocysteine concentration, the 844ins68 variant of the cystathionine beta-synthase gene, and pyridoxal-5′-phosphate concentration. Mol Genet Metab 1999;67:352-356.
44. Andria G, Buoninconti A, Sperandeo MP, de Franchis R, D'Angelo A, Sebastio G, et al. Intermediate hyperhomocysteinemia and the 844ins68 mutation of the cystathionine-beta-synthase gene [abstract]. Am J Hum Genet 1998;63(suppl):A207.
45. Dekou V, Gudnason V, Hawe E, Miller GJ, Stansbie D, Humphries SE. Gene-environment and gene-gene interaction in the determination of plasma homocysteine levels in healthy middle-aged men. Thromb Haemost 2001;85:67-74.
46. de Franchis R, Fermo I, Mazzola G, Sebastio G, Di Minno G, Coppola A, Andria G, D'Angelo A. Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia. Thromb Haemost 2000;84:576-582.
47. Speer M, Worley G, Mackey J, Melvin E, Oakes W, George T. The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. Neurogenetics 1997;1:149-150.
48. Kluijtmans LA, Boers GH, Trijbels FJ, van Lith-Zanders HM, van den Heuvel LP, Blom HJ. A common 844INS68 insertion variant in the cystathionine beta-synthase gene. Biochem Mol Med 1997;62:23-25.
49. Pepe G, Vanegas OC, Rickards O, Giusti B, Comeglio P, Brunelli T, Marcucci R, Prisco D, Gensini GF, Abbate R. World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker. Hum Genet 1999;104:126-129.
50. Christensen B, Arbour L, Tran P, Leclerc D, Sabbaghian N, Platt R, Gilfix BM, Rosenblatt DS, Gravel RA, Forbes P, Rozen R. Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. Am J Med Genet 1999;84:151-157.
51. Shaw GM, Rozen R, Finnell RH, Wasserman CR, Lammer EJ. Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida. Am J Epidemiol 1998;148:30-37.
52. Christensen B, Yang H, Gravel RA, Rozen R. A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Mol Genet Metab 1999;67:317-323.
53. Morrison K, Papapetrou C, Hol FA, Mariman EC, Lynch SA, Burn J, Edwards YH. Susceptibility to spina bifida; an association study of five candidate genes. Ann Hum Genet 1998;62:379-396.
54. Shields DC, Kirke PN, Mills JL, Ramsbottom D, Molloy AM, Burke H, Weir DG, Scott JM, Whitehead AS. 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 1999;64:1045-1055.