Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorphisms affect the risk of cleft lip with or without cleft palate?

American Journal of Epidemiology

Volumn 157, Issue 7, 2003, Pages 583-591

  Van Rooij, Iris A L M ^a   Vermeij Keers, Christl ^b   Kluijtmans, Leo A J ^a   Ocké, Marga C ^c   Zielhuis, Gerhard A ^a   Goorhuis Brouwer, Sieneke M ^d   Van der Biezen, Jan Jaap ^e   Kuijpers Jagtman, Anne Marie ^a   Steegers Theunissen, Régine P M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c NATIONAL INSTITUTE FOR PUBLIC HEALTH AND THE ENVIRONMENT   (Netherlands)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e MEDICAL CENTER LEEUWARDEN   (Netherlands)

Author keywords

Abnormalities; Folic acid; Genes; Nutrition; Pregnancy; Vitamins

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); FOLIC ACID;

PREGNANCY;

ADULT; ARTICLE; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; DIETARY INTAKE; DNA POLYMORPHISM; FEMALE; GENE FUNCTION; GENOTYPE; HAPLOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NETHERLANDS; NUTRITION; PREGNANCY; RISK ASSESSMENT; RISK FACTOR; VITAMIN SUPPLEMENTATION;

CASE-CONTROL STUDIES; CLEFT LIP; CLEFT PALATE; CONFIDENCE INTERVALS; FEMALE; FOLIC ACID; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE; MATERNAL NUTRITION PHYSIOLOGY; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; POLYMORPHISM, GENETIC; PREGNANCY;

EID: 0242600545     PISSN: 00029262     EISSN: None     Source Type: Journal    
DOI: 10.1093/aje/kwg005     Document Type: Article

References (32)

1. Wyszynski DF, Beaty TH, Maestri NE. Genetics of nonsyndromic oral clefts revisited. Cleft Palate Craniofac J 1996;33:406-17.
2. Czeizel AE. Prevention of congenital abnormalities by periconceptional multivitamin supplementation. BMJ 1993;306:1645-8.
3. Briggs RM. Vitamin supplementation as a possible factor in the incidence of cleft lip/palate deformities in humans. Clin Plast Surg 1976;3:647-52.
4. Tolarova MM, Harris J. Reduced recurrence of orofacial clefts after periconceptional supplementation with high-dose folic acid and multivitamins. Teratology 1995;51:71-8.
5. Shaw GM, Lammer EJ, Wasserman CR, et al. Risks of orofacial clefts in children born to women using multivitamins containing folic acid periconceptionally. Lancet 1995;346:393-6.
6. Itikala PR, Watkins ML, Mulinare J, et al. Maternal multivitamin use and orofacial clefts in offspring. Teratology 2001;63:79-86.
7. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-13.
8. Molloy AM, Daly S, Mills JL, et al. Thermolabile variant of 5,10-methylenetetrahydrofolate reductase associated with low red-cell folates: implications for folate intake recommendations. Lancet 1997;349:1591-3.
9. Van der Put NMJ, Gabreëls F, Stevens EMB, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural tube defects? Am J Hum Genet 1998;62:1044-51.
10. Shaw GM, Rozen R, Finell RH, et al. Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip. Am J Med Genet 1998;80:196-8.
11. Mills JL, Kirke PN, Molloy AM, et al. Methylenetetrahydrofolate reductase thermolabile variant and oral clefts. Am J Med Genet 1999;86:71-4.
12. Martinelli M, Scapoli L, Pezzetti F, et al. C677T variant form at the MTHFR gene and CL/P: a risk factor for mothers? Am J Med Genet 2001;98:357-60.
13. Beaty TH, Hetmanski JB, Zeiger JS, et al. Testing candidate genes for non-syndromic oral clefts using a case-parent trio design. Genet Epidemiol 2002;22:1-11.
14. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993; 52:506-16.
15. Luijsterburg AJM, Vermeij-Keers C. NVSCA-registration cleft lip/alveolus and cleft palate. Annual report 1997. Rotterdam, the Netherlands: Department of Plastic Surgery, University Hospital Rotterdam, 1999. (ISBN: 90-76580-03-0).
16. Food and Nutrition Council. Follow-up report on the relationship between folic acid intake and neural tube defects. The Hague, the Netherlands: Food and Nutrition Council, 1993.
17. Ocké MC, Bueno de Mesquita HB, Goddijn HE, et al. The Dutch EPIC food frequency questionnaire. I. Description of the questionnaire, and relative validity and reproducibility for food groups. Int J Epidemiol 1997;26(suppl 1):37-48.
18. Ocké MC, Bueno de Mesquita HB, Pols MA, et al. The Dutch EPIC food frequency questionnaire. II. Relative validity and reproducibility for nutrients. Int J Epidemiol 1997;26(suppl 1):49-58.
19. Devine CM, Bove CF, Olson CM. Continuity and change in women's weight orientations and lifestyle practices through pregnancy and the postpartum period: the influence of life course trajectories and transitional events. Soc Sci Med 2000; 50:567-82.
20. Stichting NEVO. NEVO tabel. Nederlands Voedingsstoffenbestand 1996. (In Dutch). Den Haag, the Netherlands: Voorlichtingsbureau voor de Voeding, 1996.
21. Konings EJM, Roomans HHS, Dorant E, et al. Folate intake of the Dutch population according to newly established liquid chromatography data for foods. Am J Clin Nutr 2001;73:765-76.
22. Willet WC, Howe GR, Kushi LH. Adjustment for total energy in epidemiologic studies. Am J Clin Nutr 1997;65(suppl):1220-8.
23. Gaspar DA, Pavanello RC, Zatz M, et al. Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: results from a case-control study in Brazil. (Letter). Am J Med Genet 1999;87:197-9.
24. Tolarova MM, van Rooij IALM, Pastor M, et al. A common mutation in the MTHFR gene is a risk factor for nonsyndromic cleft lip and palate anomalies. (Abstract). Am J Hum Genet 1998;63:A27.
25. Blanton SH, Kolle BS, Hecht JT, et al. No evidence supporting MTHFR as a risk factor in the development of familial NSCLP. (Letter). Am J Med Genet 2000;92:370-1.
26. Bower C, Stanley FJ. Dietary folate and nonneural midline birth defects: no evidence of an association from a case-control study in western Australia. Am J Med Genet 1992;44:647-50.
27. Van der Put NMJ, Eskes TKAB, Blom HJ. Is the common 677C→T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis. QJM 1997;90:111-15.
28. Nelen WLDM, Blom HJ, Thomas CMG, et al. Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent miscarriages. J Nutr 1998;128:1336-41.
29. Fohr IP, Prinz-Langenohl R, Brönstrup A, et al. 5,10-methylenetetrahydrofolate reductase genotype determines the plasma homocysteine-lowering effect of supplementation with 5-methyltetrahydrofolate or folic acid in healthy young women. Am J Clin Nutr 2002;75:275-82.
30. Rosenquist TH, Ratashak SA, Selhub J. Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid. Proc Natl Acad Sci U S A 1996;93:15227-32.
31. Andaloro VJ, Monaghan DT, Rosenquist TH. Dextromethorphan and other N-methyl-D-aspartate receptor antagonists are teratogenic in the avian embryo model. Pediatr Res 1998;43:1-7.
32. Rosenquist TH, Schneider AM, Monogham DT. N-methyl-D-aspartate receptor agonists modulate homocysteine-induced developmental abnormalities. FASEB J 1999;13:1523-31.