Folic acid supplementation use and the MTHFR C677T polymorphism in orofacial clefts etiology: An individual participant data pooled-analysis

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 97, Issue 8, 2013, Pages 509-514

  Butali, Azeez ^a   Little, Julian ^b   Chevrier, Cécile ^c   Cordier, Sylvian ^c   Steegers Theunissen, Regine ^d,e   Jugessur, Astanand ^f,g   Oladugba, Bola ^h   Mossey, Peter A ⁱ  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF OTTAWA   (Canada)

^c INSERM   (France)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f NORWEGIAN INSTITUTE OF PUBLIC HEALTH   (Norway)

^g ROYAL CHILDREN'S HOSPITAL   (Australia)

^h UNIVERSITY OF NIGERIA   (Nigeria)

ⁱ UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

Cleft lip and palate; Folic acid, individual patient data; MTHFR; Pooled analysis

Indexed keywords

FOLIC ACID;

ALCOHOL CONSUMPTION; ARTICLE; CLEFT LIP; CLEFT PALATE; DNA POLYMORPHISM; EDUCATIONAL STATUS; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; GESTATION PERIOD; GESTATIONAL AGE; HEREDITY; HUMAN; MATERNAL AGE; MATERNAL NUTRITION; MATERNAL SMOKING; PRIORITY JOURNAL; RISK REDUCTION; SYSTEMATIC REVIEW; VITAMIN INTAKE; VITAMIN SUPPLEMENTATION;

CLEFT LIP AND PALATE; FOLIC ACID, INDIVIDUAL PATIENT DATA; MTHFR; POOLED-ANALYSIS;

ADULT; BRAIN; CASE-CONTROL STUDIES; CLEFT LIP; CLEFT PALATE; DIETARY SUPPLEMENTS; ETHANOL; FEMALE; FOLIC ACID; HUMANS; MALE; MATERNAL EXPOSURE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SMOKING;

EID: 84881668354     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23133     Document Type: Article

References (30)

1. Beaty TH, Ruczinski I, Murray JC, et al. 2011. Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. Genet Epidemiol. 35:469-478.
2. Boyles AL, Wilcox AJ, Taylor JA, et al. 2008. Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts. Am J Med Genet A 146:440-449.
3. Chevrier C, Perret C, Bahuau M, et al. 2007. Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts. Am J Med Genet A 143:248-257.
4. De-Regil LM, Fernández-Gaxiola AC, Dowswell T, et al. 2010. Effects and safety of periconceptional folate supplementation for preventing birth defects. Cochrane Database Syst Rev CD007950.
5. Dixon MJ, Marazita ML, Beaty TH, Murray JC. 2011. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 12:167-178.
6. Fortier I, Burton PR, Robson PJ, et al, 2010. Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies. Int J Epidemiol 39:1383-1393.
7. Fortier I, Doiron D, Burton P, et al. 2011a. Applicability? Am J Epidemiol 74:261-264.
8. Fortier I, Doiron D, Little J, et al. 2011b. International harmonization initiative. Is rigorous retrospective harmonization possible? Application of the DataSHaPER approach across 53 large studies. Int J Epidemiol 40:1314-1328.
9. Harris JR, Burton P, Knoppers BM, et al. 2012. Toward a roadmap in global bio-banking for health. Eur J Hum Genet 20:1105-1111.
10. Jia ZL, Shi B, Chen CH, et al. 2011. Maternal malnutrition, environmental exposure during pregnancy and the risk of non-syndromic orofacial clefts. Oral Dis 17:584-589.
11. Johnson CY, Little J. 2008. Folate intake, markers of folate status and oral clefts: is the evidence converging? Int J Epidemiol 37:1041-1058.
12. Jugessur A, Farlie PG, Kilpatrick N. 2009. The genetics of isolated orofacial clefts: from genotypes to subphenotypes. Oral Dis 15:437-453.
13. Jugessur A, Wilcox AJ, Lie RT, et al. 2003. Exploring the effects of methylenetetrahydrofolate reductase gene variants C677T and A1298C on the risk of orofacial clefts in 261 Norwegian case-parent triads. Am J Epidemiol 157:1083-1091.
14. Kelly D, O'Dowd T, Reulbach U. 2012. Use of folic acid supplements and risk of cleft lip and palate in infants: a population-based cohort study. Br J Gen Pract 62:466-472.
15. Knoppers BM, Harris JR, Tassé AM, et al. 2011.Towards a data sharing Code of Conduct for international genomic research. Genome Med 3:46.
16. Little J, Cardy A, Munger RG. 2004. Tobacco smoking and oral clefts: a meta-analysis. Bull World Health Organ 82:213-218.
17. Little J, Gilmour M, Mossey PA, et al. 2008a. Folate and clefts of the lip and palate-a UK-based case-control study. I. Dietary and supplemental folate. Cleft Palate Craniofac J 45:420-427.
18. Little J, Gilmour M, Mossey PA, et al. 2008b. Folate and clefts of the lip and palate-a UK-based case-control study. II. Biochemical and genetic analysis. 45:428-438.
19. Mills JL, Molloy AM, Parle-McDermott A, et al. 2008. Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate. Birth Defects Res A Clin Mol Teratol 82:636-643.
20. Mossey PA, Little J, Munger RG, et al. 2009. Cleft lip and palate. Lancet 374:1773-1785.
21. Sayed AR, Bourne D, Pattinson R, et al. 2008. Decline in the prevalence of neural tube defects following folic acid fortification and its cost-benefit in South Africa. Birth Defects Res A Clin Mol Teratol 82:211-216.
22. Skare O, Jugessur A, Lie RT, et al. 2012. Application of a novel hybrid study design to explore gene-environment interactions in orofacial clefts. Ann Hum Genet 76:221-236.
23. Smithells RW, Sheppard S, Schorah CJ, et al. 1981. Vitamin supplementation and neural tube defects. Lancet 2:1425.
24. Thomason HA, Dixon MJ. 2009. Craniofacial defects and cleft lip and palate. Encyclopedia of life sciences (ELS). Chichester, UK: Wiley.
25. van Rooij IA, Vermeij-Keers C, Kluijtmans LA, et al. 2003. Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorphisms affect the risk of cleft lip with or without cleft palate? Am J Epidemiol 157:583-591.
26. Verkleij-Hagoort A, Bliek J, Sayed-Tabatabaei F, et al. 2007. Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. Am J Med Genet A 2143:952-960.
27. Wehby G, Cassell C. 2009. The impact of orofacial clefts on quality of life and healthcare use and costs. Oral Dis 16:3-10.
28. Wilcox AJ, Lie RT, Solvoll K et al. 2007. Folic acid supplements and risk of facial clefts: national population based case-control study. BMJ 334:433-434.
29. WHO. 2002. Global registry and data base on craniofacial anomalies. Report of a WHO Registry Meeting on Craniofacial Anomalies; Baura, Brazil, 2001, Vol. 12, pp. 1-3.
30. Zhu J, Ren A, Hao L, et al. 2006.Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China. Am J Med Genet A 140:551-557.