Association between MTHFR polymorphisms and orofacial clefts risk: A meta-analysis

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 94, Issue 4, 2012, Pages 237-244

  Luo, Ya L ^a   Cheng, Yu L ^b   Ye, Ping ^a   Wang, Wei ^b   Gao, Xiao H ^c   Chen, Qing ^a  

^a SOUTHERN MEDICAL UNIVERSITY   (China)

^b Birth Defects Prevention Research and Transformation Team   (China)

^c HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

Meta analysis; Methylenetetrahydrofolate reductase; Orofacial clefts; Polymorphism; Risk

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

ARTICLE; CAUCASIAN; CLEFT LIP; CLEFT LIP PALATE; CLEFT PALATE; DNA POLYMORPHISM; EMBASE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MEDLINE; PRIORITY JOURNAL; PUBLISHING; RISK ASSESSMENT; SYSTEMATIC REVIEW; WILD TYPE;

CLEFT LIP; CLEFT PALATE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT, NEWBORN; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); POLYMORPHISM, GENETIC;

EID: 84859565662     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23005     Document Type: Article

References (46)

1. Ali A, Singh SK, Raman R. 2009. MTHFR 677TT alone and IRF6 820GG together with MTHFR 677CT, but not MTHFR A1298C, are risks fornonsyndromic cleft lip with or without cleft palate in an Indian population. Genet Test Mol Biomarkers 13: 355-360.
2. Begg CB, Mazumdar M. 1994. Operating characteristics of a rank correlation test of publication bias. Biometrics 50: 1088-1101.
3. Bender PL. 2000. Genetics of cleft lip and palate. J Pediatr Nurs 15: 242-249.
4. Brandalize AP, Bandinelli E, Borba JB, et al. 2007. Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil. Braz J Med Biol Res 40: 787-791.
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. Cochran WG. 1954. The combination of estimates from different experiments. Biometrics 10: 101-129.
7. Colhoun HM, McKeigue PM, Davey Smith G. 2003. Problems of reporting genetic associations with complex outcomes. Lancet 361: 865-872.
8. DerSimonian R, Laird N. 1986. Meta-analysis in clinical trials. Control Clin Trials 7: 177-188.
9. Egger M, Davey Smith G, Schneider M, Minder C. 1997. Bias in meta-analysis detected by a simple, graphical test. BMJ 315: 629-634.
10. Fraser FC. 1955. Thoughts on the etiology of clefts of the palate and lip. Acta Genet Stat Med 5: 358-369.
11. Frosst P, Blom HJ, Milos R, et al. 1995. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10: 111-113.
12. Gaspar DA, Matioli SR, de Cássia Pavanello R, et al. 2004. Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate. Eur J Hum Genet 12: 521-526.
13. Grunert RR, Braune A, Schnackenberg E, et al. 2002. [Genetic differences in enzymes of folic acid metabolism in patients with lip-jaw-palate clefts and their relatives]. [Article in German] Mund Kiefer Gesichtschir 6: 131-133.
14. Han Y, Pan Y, Du Y, et al. 2011. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and nonsyndromic orofacial clefts susceptibility in a southern Chinese population. DNA Cell Biol 30: 1063-1068.
15. Higgins JP, Thompson SG. 2002. Quantifying heterogeneity in a meta-analysis. Stat Med 21: 1539-1558.
16. Honein MA, Rasmussen SA, Reefhuis J, et al. 2007. Maternal smoking and environmental tobacco smoke exposure and the risk of orofacial clefts. Epidemiology 18: 226-233.
17. Itikala PR, Watkins ML, Mulinare J, et al. 2001. Maternal multivitamin use and orofacial clefts in offspring. Teratology 63: 79-86.
18. Johnson CY, Little J. 2008. Folate intake, markers of folate status and oral clefts: is the evidence converging? Int J Epidemiol 37: 1041-1058.
19. Jorde LB, Wooding SP. 2004. Genetic variation, classification and 'race'. Nat Genet 36( 11 Suppl): S28-33.
20. 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.
21. Krapels IP, Zielhuis GA, Vroom F, et al. 2006. Periconceptional health and lifestyle factors of both parents affect the risk of live-born children with orofacial clefts. Birth Defects Res A Clin Mol Teratol 76: 613-620.
22. Little J, Gilmour M, Mossey PA, et al. 2008. Folate and clefts of the lip and palate-a U.K.-based case-control study: part II: biochemical and genetic analysis. Cleft Palate Craniofac J 45: 428-438.
23. Mantel N, Haenszel W. 1959. Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst 22: 719-748.
24. Marini NJ, Hoffmann TJ, Lammer EJ, et al. 2011. A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis. PLoS One 6: e28408.
25. 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.
26. 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.
27. Mossey PA, Little J. 2002. Epidemiology of oral clefts: an international perspective. In: Wyszynski DF, editor. Cleft lip and palate: from origin to treatment. New York: Wiley-Liss. pp. 127-158.
28. Mostowska A, Hozyasz KK, Wojcicki P, et al. 2010. Associations of folate and choline metabolism gene polymorphisms with orofacial clefts. J Med Genet 47: 809-815.
29. Nurk E, Tell GS, Refsum H, et al. 2004. Associations between maternal methylenetetrahydrofolate reductase polymorphisms and adverse outcomes of pregnancy: the Hordaland Homocysteine Study. Am J Med 117: 26-31.
30. Paros A, Beck SL. 1999. Folinic acid reduces cleft lip [CL(P)] in A/WySn mice. Teratology 60: 344-347.
31. Pezzetti F, Martinelli M, Scapoli L, et al. 2004. Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate. Hum Mutat 24: 104-105.
32. Richter B, Stegmann K, Röper B, et al. 2001. Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population. J Hum Genet 46: 105-109.
33. Rozen R. 1997. Genetic predisposition to hyperhomocysteinemia: deficiency of methylenetetrahydrofolate reductase (MTHFR). Thromb Haemost 78: 523-526.
34. Schutte BC, Murray JC. 1999. The many faces and factors of orofacial clefts. Hum Mol Genet 8: 1853-1859.
35. 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.
36. 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.
37. Shotelersuk V, Ittiwut C, Siriwan P, Angspatt A. 2003. Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip. J Med Genet 40: e64.
38. Sözen MA, Tolarova MM, Spritz RA. 2009. The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela. J Genet Genomics 36: 283-288.
39. Spritz RA. 2001. The genetics and epigenetics of orofacial clefts. Curr Opin Pediatr 13: 556-560.
40. Tolarova MM, van Rooij IA, Pastor M, et al. 1998. A common mutation in the MTHFR gene is a risk factor for nonsyndromic cleft lip and palate anomalies. Am J Hum Genet 63: A27.
41. van der Put NM, Gabreëls 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.
42. 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.
43. 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 143A: 952-960.
44. Wehby GL, Murray JC. 2010. Folic acid and orofacial clefts: a review of the evidence. Oral Dis 16: 11-19.
45. Zhu H, Kartiko S, Finnell RH. 2009. Importance of gene-environment interactions in the etiology of selected birth defects. Clin Genet 75: 409-423.
46. 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.