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2009, Number 5

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Rev Med Inst Mex Seguro Soc 2009; 47 (5)

Non-Syndromic Cleft Lip/Cleft Palate and C677T Methylene-Tetrahydrofolate Reductase Variant in Mexican Children

Dávalos-Rodríguez IP, Ramírez-Lizardo EJ, Mena JP, Ledezma-Rodríguez V, Omayra-Dávalos N, González-Mercado MG, Durán-González J, Morán-Moguel MC, Peralta-Leal V, Salazar-Páramo M, Ledezma-Gómez V

Language: Spanish
References: 37
Page: 549-552
PDF size: 32.48 Kb.


ABSTRACT

Background: non-syndromic cleft lip with or without cleft palate (NSCLP) is a common malformation. The aetiology is multifactorial. An incidence of 1.1-1.39 per 1000 new births had been reported in Mexico. The folic acid intake in preconceptional stage has been reported to prevent malformations such as neural tube defects (NTD) and NSCLP. The C677T variant of the methylene-tetrahydrofolate reductase (MTHFR) gene is responsible of a thermolabile form, related to decrease of folate and increase homocysteine. This variant has been associated with CLP, in different populations, but results are still controversial. Our objective was to determine the allelic (AF) and genotypic frequency (GF) of the MTHFR-C677T variant in Mexican children with NSCLP.
Methods: transverse comparative study in 67 Mexican children with NSCLP and a control group with 70 unrelated Mexican individuals without NSCLP.
Results: the AF in NSCLP was 39 %. There was no statistical difference between AF in the two groups (39 versus 41).
Conclusions: in this population, genotype C677T was not a major risk factor for this malformation, however, sample size, other genes implicated and genes-environment interactions must be considered.


REFERENCES

  1. Vanderas AP. Incidence of cleft lip, cleft palate and cleft lip and palate among race. A review. Cleft Palate J 1987;24(3):216-225.

  2. Sullivan WG. Cleft lip with and without cleft palate in black. An analysis of 81 patients. Plast Reconstr Surg 1989;84(3):406-408.

  3. Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the head and neck. Fourth edition. Oxford: Oxford University Press; 2001. p. 850-860.

  4. Armendares S, Lisker R. Análisis genético del labio y paladar hendidos y paladar hendido solo. Un estudio en población mexicana. Rev Invest Clin 1974;26 (4):317-332.

  5. Pérez-Molina JJ, Alfaro-Alfaro N, Angulo-Castellanos E, Nario-Castellanos JG. The prevalence and risk malformations of cleft lip and cleft palate in 2 hospitals in the city of Guadalajara, Jalisco, Mexico. Bol Med Hops Infant Mex 1993;50 (2):110-113.

  6. Ochoa-Lozano BR, Ortiz-de Anda JD, Padilla-de la Paz KE, Chacón-Martínez H, Blanco-Dávila F. Casuística de 10 ańos de labio y paladar hendido en el Hospital Universitario de la UANL. Med Universitaria 2003;5(18):19-24.

  7. Bender PL. Genetics of cleft lip and palate. J Pediatr Nurs 2000;15(4):242-249.

  8. Murray JC. gene/environment causes of cleft lip and/or palate. Clin genet 202; 61:248-256.

  9. Romitti PA, Lidral AC, Munger RG, Daack-Hirsch S, Burns TL, Murray JC. Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: evaluation of genotype-environment interactions from a population-based case-control study of orofacial cleft. Teratology 1999;59(1):39-50.

  10. Tamura T, Munger RG, Corcoran C, Bacayao JY, Nepomuceno B, Solon F. Plasma zinc concentrations of mothers and the risk of nonsyndromic oral clefts in their children: a case-control study in the Philippines. Birth Defects res A Clin Mol Teratol 2005;73(9):612-616.

  11. Ardinger HH, Buetow KH, Bell GI, Bardach J, VanDemark DR, Murray JC. Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet 1989;45:348-353.

  12. FitzPatrick D, Farral M. An estimation of number of susceptibility loci for isolated cleft palate. J Craniofac Genet Dev Biol 1993;13:230-235.

  13. Martinelli M, Arlotti M, Palmieri A, Scapoli L, Savoia A, Di Stazio M, Pezzetti F, Masiero E, Carnici F. Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. Eur J Oral Sci 2008;116(3):287-290.

  14. Chiquet BT, Hashimi SS, Henry R, Burt A, Mulliken JB, Stal S, Bray M, Blanton SH, Hecht JT. Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate. Eur J Hum Genet 2008; Aug 20.

  15. Prescott NJ, Malcolm S, Patch MRC. Folate and the face: evaluating the evidence for the influence of folate genes on craniofacial development. Cleft Plate Craniofac J 2002;39(3):327-331.

  16. Bailey LB. New standard for dietary folate intake in pregnant women. Am J Clin Nutr 2000;71(5 Supp l): 1304S-1307S.

  17. Czeizel AE, Timar L, SarKozi A. Dose-dependent effect of folic acid on the prevention of orofacial clefts. Pediatrics 1999;104(6):e66.

  18. Shaw GM, Wasserman CR, O’Malley CD, Tolarova MM, Lammer EJ. Risks of orofacial cleft in children born to women using multivitamins containing folic acid periconceptionaly. Lancet 1995;346(8972):393- 396.

  19. Krapels IP, van Rooij IA, Ocke MC, West CE, van der Horst CM, Steegers-Theunissen RP. Maternal nutritional status and the risk for orofacial cleft offspring in humans. J Nutr 2004;134(11): 3106-3113.

  20. Van Rooij IA, Ocke MC, Straatman H, Zielhuis GA, Merkus HM, Steegers-Theunissen RP. Periconceptional folate intake by supplement and food reduces the risk of nonsyndromic cleft lip with or without cleft palate. Prev Med 2004;39 (4):689-694.

  21. Wilcox AJ, Lie RT, Solvoll K, Taylor J, McConnaughey DR, Abyholm F, et al. Folic acid supplements and risk of facial clefts: national population based case-control study. Br Med J 2007;334(7591):433- 434.

  22. Goyette P, Sumner JS, Milos R, Duncan AM, Rosenblatt DS, Matthews RG, et al. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nat Genet 1994;7(2):195-200.

  23. Kluijtmans LA, van den Heuvel LP, Boers GH, Frosst P, Stevens EM, van Oost BA, et al. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996; 58(1):35-41.

  24. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10(1):111-113.

  25. Wan WD, Wang LJ, Zhou XP, Zhou DL, Zhang QG, Huang JL, et al. Relationship between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and genetic polymorphisms of MTHFR-C677T and A1298C. Zhonghua Zheng Xing Wai Ke Za Zhi 2006;22(1):8-11.

  26. Zhu J, Ren A, Hao L, Pei L, Liu J, Zhu H, et al. Variable contribution of the MTHFR-C677T polymorphism to non-syndromic cleft lip and palate risk in China. Am J Med Genet A 2006;140(6):551-557.

  27. Chevrier C, Perret C, Bahuau M, Zhu H, Nelva A, Herman C, et al. Fetal and maternal MTHFR-C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts. Am J Med Genet A 2007; 143A(3):248-257.

  28. Verkleij-Hagoort A, Bliek J, Sayed-Tabatabaei F, Ursem N, Steegers E, Steegers-Theunissen R. Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. Am J Med Genet A 2007;143A(9):952-960.

  29. Brandalize AP, Bandinelli E, Borba JB, Félix TM, Roisenberg I, Schüler-Faccini L. Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil. Braz J Med Biol Res 2007;40(6):787-791.

  30. Schneider JA, Rees DC, Liu YT, Clegg JB. Worldwide distribution of a common methylenetetrahydrofolate reductase mutation. Am J Hum Genet 1998; 62(5):1258-1260.

  31. Arruda VR, Siqueira LH, Goncalves MS, von Zuben PM, Soares MC, Menezes R, et al. Prevalence of the mutation C677 —› T in the methylene tetrahydrofolate reductase gene among distinct ethnic groups in Brazil. Am J Med Genet 1998;78 (4):332-335.

  32. Gaspar DA, André M, Sterman S, Wyszynski DF, Matiolli SR. 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 1999;87: 197-199.

  33. Mutchinick OM, López MA, Luna L, Waxman J, Babinsky VE. High prevalence of the thermolabile methylenetetrahydrofolate reductase variant in Mexico: a country with a very high prevalence of neural tube defects. Mol Genet Metab 1999;68(4): 461-467.

  34. Dávalos IP, Olivares N, Castillo MT, Cantú JM, Ibarra B, Sandoval L, et al. The C677T polymorphism of the methylenetetrahydrofolate reductase gene in Mexican mestizo neural-tube defect parents, control mestizo and native populations. Ann Genet 2000;43(2):89-92.

  35. Chakraborty R. Simple size requirements for addressing the population genetic issues for forensinc use of DNA typing. Hum Biol 1992;64: 141-159.

  36. Gustincich S, Manfioletti G, Del Sal G, Schneider C, Carninci P. A fast method for high-quality genomic DNA extraction from whole human blood. Biotechniques 1991;11(3):298-300.

  37. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16(3):1215.




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