MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the Brazilian population

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 100, Issue 1, 2014, Pages 30-35

  de Aquino, Sibele Nascimento ^a   Hoshi, Ryuichi ^b   Bagordakis, Elizabete ^a   Pucciarelli, Maria Giulia Rezende ^a   Messetti, Ana Camila ^a   Moreira, Helenara ^c   Bufalino, Andreia ^a   Borges, Andréa ^b   Rangel, Ana Lucia ^c   Brito, Luciano Abreu ^d   Oliveira Swerts, Mario Sergio ^e   Martelli Junior, Hercilio ^f   Line, Sergio R ^a   Graner, Edgard ^a   Reis, Sílvia R A ^b   Passos Bueno, Maria Rita ^d   Coletta, Ricardo D ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b ESCOLA BAHIANA DE MEDICINA E SAÚDE PÚBLICA   (Brazil)

^c UNIVERSIDADE ESTADUAL DO OESTE DO PARANÁ   (Brazil)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

^e University of José Rosário Vellano   (Brazil)

^f STATE UNIVERSITY OF MONTES CLAROS   (Brazil)

Author keywords

Folic acid; MTHFD1; MTHFR; Nonsyndromic cleft lip with or without cleft palate; Polymorphism; Susceptibility

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); METHYLENETETRAHYDROFOLATE DEHYDROGENASE;

ARTICLE; BRAZIL; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PRIORITY JOURNAL; PROGENY;

FOLIC ACID; MTHFD1; MTHFR; NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE; POLYMORPHISM; SUSCEPTIBILITY;

ADULT; ALLELES; BRAZIL; CASE-CONTROL STUDIES; CHILD; CLEFT LIP; CLEFT PALATE; FEMALE; GENE FREQUENCY; GENETIC LINKAGE; GENETIC MARKERS; GENOTYPE; HUMANS; INHERITANCE PATTERNS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK;

EID: 84892874052     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23199     Document Type: Article

References (48)

1. Bagordakis E, Paranaiba LM, Brito LA, et al. 2013. Polymorphisms at regions 1p22.1 (rs560426) and 8q24 (rs1530300) are risk markers for nonsyndromic cleft lip and/or palate in the Brazilian population. Am J Med Genet A 161:1177-1180.
2. Bastos-Rodrigues L, Pimenta JR, Pena SD. 2006. The genetic structure of human populations studied through short insertion-deletion polymorphisms. Ann Hum Genet 70:658-665.
3. Bhaskar LV, Murthy J, Venkatesh Babu G. 2011. Polymorphisms in genes involved in folate metabolism and orofacial clefts. Arch Oral Biol 56:723-737.
4. Bi XH, Zhao HL, Zhang ZX, et al. 2010. Association analysis of CbetaS 844ins68 and MTHFD1 G1958A polymorphisms with Alzheimer's disease in Chinese. J Neural Transm 117:499-503.
5. Blanton SH, Henry RR, Yuan Q, et al. 2011. Folate pathway and nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol 91:50-60.
6. 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 146A:440-449.
7. 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.
8. Brito LA, Paranaiba LM, Bassi CF, et al. 2012. Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil. Birth Defects Res A Clin Mol Teratol 94:464-468.
9. Bufalino A, Paranaíba LMR, Aquino SN, et al. 2010. Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian population. Birth Defects Res A Clin Mol Teratol 88:980-986.
10. Butali A, Little J, Chevrier C, et al. 2013. Folic acid supplementation use and the MTHFR C677T polymorphism in orofacial clefts etiology: an individual participant data pooled-analysis. Birth Defects Res A Clin Mol Teratol 97:509-514.
11. Christensen KE, Rohlicek CV, Andelfinger GU, et al. 2009. The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. Hum Mutat 30:212-220.
12. Collin SM, Metcalfe C, Zuccolo L, et al. 2009. Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis. Cancer Epidemiol Biomarkers Prev 18:2528-2539.
13. de Aquino SN, Messetti AC, Bagordakis E, et al. 2013. Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate. BMC Med Genet 14:53.
14. De-Regil LM, Fernandez-Gaxiola AC, Dowswell T, et al. 2010. Effects and safety of periconceptional folate supplementation for preventing birth defects. Cochrane Database Syst Rev 6:CD007950.
15. Dixon MJ, Marazita ML, Beaty TH, et al. 2011. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 12:167-178.
16. Etheredge AJ, Finnell RH, Carmichael SL, et al. 2012. Maternal and infant gene-folate interactions and the risk of neural tube defects. Am J Med Genet A 158A:2439-2446.
17. Falush D, Stephens M, Pritchard JK. 2007. Inference of population structure using multilocus genotype data: dominant markers and null alleles. Mol Ecol Notes 7:574-578.
18. Furness DL, Fenech MF, Khong YT, et al. 2008. One-carbon metabolism enzyme polymorphisms and uteroplacental insufficiency. Am J Obstet Gynecol 199:276.e1-e8.
19. 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 87:197-179.
20. Giusti B, Saracini C, Bolli P, et al. 2010. Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism. Thromb Haemost 104:231-242.
21. 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.
22. 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.
23. López-Camelo JS, Castilla EE, Orioli IM. INAGEMP (Instituto Nacional de Genética Médica Populacional); ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas). 2010. Folic acid flour fortification: impact on the frequencies of 52 congenital anomaly types in three South American countries. Am J Hum Genet A 152:2444-2458.
24. Little J, Gilmour M, Mossey PA, et al. 2008. Folate and clefts of the lip and palatea UK-based case-control study. I. Dietary and supplemental folate. Cleft Palate Craniofac J 45:420-427.
25. Liu H, Jin G, Wang H, et al. 2008. Association of polymorphisms in one-carbon metabolizing genes and lung cancer risk: a case-control study in Chinese population. Lung Cancer 61:21-29.
26. Luo YL, Cheng YL, Ye P, et al. 2012. Association between MTHFR polymorphisms and orofacial clefts risk: a meta-analysis. Birth Defects Res A Clin Mol Teratol 94:237-244.
27. Martelli-Junior H, Porto LV, Martelli DR, et al. 2007. Prevalence of nonsyndromic oral clefts in a reference hospital in the state of Minas Gerais, Brazil, between 2000-2005. Braz Oral Res 21:314-317.
28. Martin YN, Olson JE, Ingle JN, et al. 2006. Methylenetetrahydrofolate reductase haplotype tag single-nucleotide polymorphisms and risk of breast cancer. Cancer Epidemiol Biomarkers Prev 15:2322-2324.
29. 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.
30. Morrison K, Papapetrou C, Hol FA, et al. 1998. Susceptibility to spina bifida: an association study of five candidate genes. Ann Hum Genet 62:379-396.
31. 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.
32. Mostowska A, Myka M, Lianeri M, et al. 2011 Folate and choline metabolism gene variants and development of uterine cervical carcinoma. Clin Biochem 44:596-600.
33. Neumann A, Lyons HJ, Shen H, et al. 2005. Methylenetetrahydrofolate reductase polymorphisms and haplotypes and the risk of squamous cell carcinoma of the head and neck: a case-control analysis. Int J Cancer 115:131-136.
34. 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 3:297-299.
35. Parle-McDermott A, Mills JL, Kirke PN, et al. 2005a. MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruption placentae. Am J Med Genet A 132:365-368.
36. Parle-McDermott A, Pangilinan F, Mills JL, et al. 2005b. A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss. Mol Hum Reprod 11:477-480.
37. Pawlik P, Mostowska A, Lianeri M, et al. 2012. Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population. Mol Biol Rep 39:5553-5560.
38. Pena SD, Di Pietro G, Fuchshuber-Moraes M, et al. 2011. The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected. PLoS One 6:e17063.
39. Prescott NJ, Malcolm S. 2002. Folate and the face: evaluating the evidence for the influence of folate genes on craniofacial development. Cleft Palate Craniofac J 39:327-331.
40. Pritchard JK, Stephens M, Donnelly P. 2000. Inference of population structure using multilocus genotype data. Genetics 155:945-959.
41. Rahimov F, Jugessur A, Murray JC. 2012. Genetics of nonsyndromic orofacial clefts. Cleft Palate Craniofac J 49:73-91.
42. Ray JG, Vermeulen MJ, Wyatt PR, et al. 2003. Association between folic acid food fortification and congenital orofacial clefts. J Pediatr 143:805-807.
43. Rodrigues K, Sena MF, Roncalli AG, et al. 2009. Prevalence of orofacial clefts and social factors in Brazil. Braz Oral Res 23:38-42.
44. Shi Q, Zhang Z, Li G, et al. 2005. Sex differences in risk of lung cancer associated with methylene-tetrahydrofolate reductase polymorphisms. Cancer Epidemiol Biomarkers Prev 14:1477-1484.
45. Suazo J, Santos JL, Jara L, et al. 2010. Parent-of-origin effects for MSX1 in a Chilean population with nonsyndromic cleft lip/palate. Am J Med Genet A 152A:2011-2016.
46. Wehby GL, Murray JC. 2010. Folic acid and orofacial clefts: a review of the evidence. Oral Dis 16:11-19.
47. 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.
48. Yoon KL, Ko JH, Shim KS, et al. 2011. Polymorphisms of methylenetetrahydrofolate reductase are not a risk factor for Kawasaki disease in the Korean population. Korean J Pediatr 54:335-339.