Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 82, Issue 9, 2008, Pages 636-643

  Mills, James L ^a   Molloy, Anne M ^b   Parle McDermott, Anne ^c   Troendle, James F ^a   Brody, Lawrence C ^d   Conley, Mary R ^a   Cox, Christopher ^a   Pangilinan, Faith ^d   Orr, David J A ^e   Earley, Michael ^e   McKiernan, Eamon ^e   Lynn, Ena C ^f   Doyle, Anne ^f   Scott, John M ^b   Kirke, Peadar N ^f  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b TRINITY COLLEGE DUBLIN   (Ireland)

^c DUBLIN CITY UNIVERSITY   (Ireland)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^f HEALTH RESEARCH BOARD   (Ireland)

Author keywords

Cleft lip; Cleft palate; Folate; Folate genes; Oral clefts; Transcobalamin gene; Vitamin B12

Indexed keywords

FOLIC ACID;

ARTICLE; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; DNA POLYMORPHISM; GENETIC VARIABILITY; HUMAN; IRELAND; LOGLINEAR MODEL; MAJOR CLINICAL STUDY; PREGNANT WOMAN; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SUBSTITUTION; CASE-CONTROL STUDIES; CHILD; CLEFT LIP; CLEFT PALATE; FEMALE; FOLIC ACID; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MULTICENTER STUDIES AS TOPIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; RISK FACTORS;

EID: 52249105530     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20491     Document Type: Article

References (37)

1. Blanton SH, Patel S, Hecht JT, et al. 2002. MTHFR is not a risk factor in the development of isolated nonsyndromic cleft lip and palate. Am J Med Genet 110:404-405.
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. Brody LC, Conley M, Cox C, et al. 2002. A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/ methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. Am J Hum Genet 71:1207-1215.
4. Canfield MA, Collins JS, Botto LD, et al. 2005. Changes in the birth prevalence of selected birth defects after grain fortification with folic acid in the United States: findings from a multi-state population-based study. Birth Defects Res A Clin Mol Teratol 73:679-689.
5. 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.
6. Czeizel AE. 1993. Prevention of congenital abnormalities by periconceptional multivitamin supplementation. BMJ 306:1645-1648.
7. Czeizel AE, Timar L, Sarkozi A. 1999. Dose-dependent effect of folic acid on the prevention of orofacial clefts. Pediatrics 104:e66.
8. Czeizel AE, Toth M, Rockenbauer M. 1996. Population-based case control study of folic acid supplementation during pregnancy. Teratology 53:345-351.
9. Frosst P, Blom HJ, Milos R, et al. 1995. A candidate genetic risk factor for vascular disease: A common mutation in methylene-tetrahydrofolate reductase. Nature Genet 10:111-113.
10. Gaspar DA, Pavanello RC, Zatz M, et al. 1999. 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. Am J Med Genet 87:197-199.
11. Hayes C, Werler MM, Willett WC, et al. 1996. Case-control study of periconceptional folic acid supplementation and oral clefts. Am J Epidemiol 143:1229-1234.
12. Itikala PR, Watkins ML, Mulinare J, et al. 2001. Maternal multivitamin use and orofacial clefts in offspring. Teratology 63:79-86.
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. Loffredo LC, Souza JM, Freitas JA, et al. 2001. Oral clefts and vitamin supplementation. Cleft Palate Craniofac J 38:76-83.
15. Martinelli M, Scapoli L, Palmieri A, et al. 2006. Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate. Hum Mutat 27:294.
16. Martinelli M, Scapoli L, Pezzetti F, et al. 2001. C677T variant form at the MTHFR gene and CL/P: a risk factor for mothers? Am J Med Genet 98:357-360.
17. Mills JL, Kirke PN, Molloy AM, et al. 1999. Methylenetetrahydrofolate reductase thermolabile variant and oral clefts. Am J Med Genet 86:71-74.
18. Mostowska A, Hozyasz KK, Jagodzinski PP. 2006. Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population. Clin Genet 69:512-517.
19. Palmieri A, Masiero E, Martinelli M, et al. 2008. The MTHFD1 gene is not involved in cleft lip with or without palate onset among the Italian population. Ann Hum Genet 72:297-299.
20. Parle-McDermott A, Kirke PN, Mills JL, et al. 2006. Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. Eur J Hum Genet 14:768-772.
21. Parle-McDermott A, Mills JL, Kirke PN, et al. 2003. Analysis of the MTHFR 1298A→C and 677C→T polymorphisms as risk factors for neural tube defects. J Hum Genet 48:190-193.
22. Prescott NJ, Winter RM, Malcolm S. 2002. Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate. J Med Genet 39:368-369.
23. Ray JG, Meier C, Vermeulen MJ, et al. 2003. Association between folic acid food fortification and congenital orofacial clefts. J Pediatr 143:805-807.
24. Shaw GM, Lammer EJ, Wasserman CR, et al. 1995. Risks of orofacial clefts in children born to women using multivitamins containing folic acid periconceptionally. Lancet 346:393-396.
25. Shaw GM, Rozen R, Finnell RH, et al. 1998. Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip. Am J Med Genet 80:196-198.
26. Shaw GM, Todoroff K, Finnell RH, et al. 1999. Maternal vitamin use, infant C677T mutation in MTHFR, and isolated cleft palate risk. Am J Med Genet 85:84-85.
27. Shotelersuk V, Ittiwut C, Siriwan P, et al. 2003. Maternal 677CT/1238AC genotype of the MTHFR gene as a risk factor for cleft lip. J Med Genet 40:e64.
28. Simmons CJ, Mosley BS, Fulton-Bond CA, et al. 2004. Birth defects in Arkansas: is folic acid fortification making a difference? Birth Defects Res A Clin Mol Teratol 70:559-564.
29. Spielman RS, McGinnis RE, Ewens WJ. 1993. Transmission Test for Linkage Disequilibrium: The Insulin Gene Region and Insulin-dependent Diabetes Mellitus (IDDM). Am J Hum Genet 52:506-516.
30. Tolarova M, Harris J. 1995. Reduced recurrence of orofacial clefts after periconceptional supplementation with high-dose folic acid and multivitamins. Teratology 51:71-78.
31. van der Put NM, Gabreels F, Stevens EM, et al. 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.
32. van Rooij IA, Ocke MC, Straatman H, et al. 2004. Periconceptional folate intake by supplement and food reduces the risk of nonsyndromic cleft lip with or without cleft palate. Prev Med 39:689-694.
33. 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.
34. 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 143:952-960.
35. Vieira AR, Murray JC, Trembath D, et al. 2005. Studies of reduced folate carrier 1 (RFC1) A80G and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects. Am J Med Genet A 135:220-223.
36. Weinberg CR, Wilcox AJ, Lie RT. 1998. A Log-Linear Approach to Case-Parent-Triad Data: Assessing Effects of Disease Genes That Act Either Directly or Through Maternal Effects and That May be Subject to Parental Imprinting. Am J Hum Genet 62:969-978.
37. Yazdy MM, Honein MA, Xing J. 2007. Reduction in orofacial clefts following folic acid fortification of the U.S. grain supply. Birth Defects Res A Clin Mol Teratol 79:16-23.