Association of SNPs in genes involved in folate metabolism with the risk of congenital heart disease

Journal of Maternal-Fetal and Neonatal Medicine

Volumn 26, Issue 18, 2013, Pages 1768-1777

  Wang, Benjing ^a   Liu, Minjuan ^a   Yan, Wenhua ^a   Mao, Jun ^a   Jiang, Dong ^a   Li, Hong ^a   Chen, Ying ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

Author keywords

Congenital heart disease; Folate metabolism; SNaPShot genotyping; SNPs

Indexed keywords

ARTICLE; CBS GENE; CHINA; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DHFR GENE; FOLATE METABOLISM; FOLH1 GENE; GENE; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENOTYPE; GSTO1 GENE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MTHFD GENE; MTHFR GENE; MTR GENE; MTRR GENE; NFE2L2 GENE; PRIORITY JOURNAL; RFC1 GENE; RISK; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; TCN2 GENE; TYMS GENE;

CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FERREDOXIN-NADP REDUCTASE; FOLIC ACID; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; METHIONINE SULFOXIDE REDUCTASES; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); NF-E2-RELATED FACTOR 2; POLYMORPHISM, SINGLE NUCLEOTIDE; REDUCED FOLATE CARRIER PROTEIN; RISK FACTORS; TRANSCRIPTION FACTORS;

EID: 84887953245     PISSN: 14767058     EISSN: 14764954     Source Type: Journal    
DOI: 10.3109/14767058.2013.799648     Document Type: Article

References (84)

1. Bosi G. Congenital heart defects and disease: an epidemiological over view. It J Pediatr 2004;30:261-6.
2. van der Bom T, Zomer AC, Zwinderman AH, et al. The changing epidemiology of congenital heart disease. Nat Rev Cardiol 2011;8: 50-60.
3. Hobbs CA, Cleves MA, Karim MA, et al. Maternal folate-related gene environment interactions. Congenit Heart Defects 2010;116: 316-22.
4. Verkleij-Hagoort AC, Verlinde M, Ursem NTC, et al. Maternal hyperhomo-cysteinaemia is a risk factor for congenital heart disease. BJOG 2006;113:1412-18.
5. Verkleij-Hagoort AC, Bliek J, Sayed-Tabatabaei F, et al. Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. AJMG 2007;143A:952-60.
6. Ionescu-Ittu R, Marelli AJ, Mackie AS, Pilote L. Prevalence of severe congenital heart disease after folic acid fortification of grain products: time trend analysis in Quebec, Canada. BMJ 2009;338: b1673.
7. Lim U, Wang SS, Hartge P, et al. Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. Blood 2007;109:3050-9.
8. Boyles AL, Wilcox AJ, Taylor JA, et al. Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts. Am J Med Genet A 2008;146A:440-9.
9. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-13.
10. Junker R, Kotthoff S, Vielhaber H, et al. Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. Cardiovasc Res 2001;51:251-4.
11. Wenstrom KD, Johanning GL, Johnston KE, DuBard M. Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations. Am J Obstet Gynecol 2001;184:806-12.
12. Zhu WL, Li Y, Yan L, et al. Maternal and offspring MTHFR gene C677T polymorphism as predictors of congenital atrial septal defect and patent ductus arteriosus. Mol Hum Reprod 2006;12: 51-4.
13. Hobbs CA, James SJ, Parsian A, et al. Congenital heart defects and genetic variants in the methylenetetrahydrofolate reductase gene. J Med Genet 2006;43:162-6.
14. Shaw GM, Iovannisci DM, Yang W, et al. Risks of human conotruncal heart defects associated with 32 single nucleoti de polymorphisms of selected cardio-vascular disease-related genes. Am J Med Genet A 2005;138:21-6.
15. Storti S, Vittorini S, Lascone MR, et al. Association between 5,10-meth-ylenete-trahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects. Clin Chem Lab Med 2003;41:276-80.
16. van Beynum IM, Kapusta L, den Heijer M, et al. Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation. Eur Heart J 2006;27:981-7.
17. Verkleij-Hagoort AC, van Driel LM, Lindemans J, et al. Genetic and lifestyle factors related to the periconception vitamin B12 status and congenital heart defects: a Dutch case-control study. Mol Genet Metab 2008;94:112-19.
18. Van Beynum IM, den Heijer M, Blom HJ, et al. The MTHFR 677C4T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis. Q J Med 2007;100:743-53.
19. Lourdes GF, Inés GG, Gloria L, et al. MTHFR polymorphisms in Puerto Rican children with isolated congenital heart disease and their mothers. Int J Genet Mol Biol 2010;2:43-7.
20. Boz?ović IB, Vraneković J, Cizmarević NS, et al. MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome. Pediatr Int 2011;53:546-50.
21. Hol FA, van der Put NM, Geurds MP, et al. Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate- dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahy-drofolate synthetase) in patients with neural tube defects. Clin Genet 1998;53:119-25.
22. Krajinovic M, Lemieux-Blanchard E, Chiasson S, et al. Role of polymorphisms in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia. Pharmacogenomics J 2004;4:66-72.
23. Silva LM, Silva JN, Galbiatti AL, et al. Head and neck carconogenesis: impact of MTHFD1 G1958A polymorphism. Rev Assoc Med Bras 2011;57:194-9.
24. Christensen KE, Rohlicek CV, Andelfinger GU, et al. The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. Human Mutation 2009; 30:212-20.
25. Brody LC, Conley M, Cox C, et al. A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/ methenyltetrahydrofolate cyclohydrolase/formyltetrahydro-folate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. Am J Hum Genet 2002; 71:1207-15.
26. Parle-McDermott A, Kirke PN, Mills JL, et al. 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 2006;14:768-72.
27. De Marco P, Merello E, Calevo MG, et al. Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G4A polymorphism for neural tube defect risk. J Hum Genet 2006;51:98-103.
28. Li Y, Cheng J, Zhu WL, et al. Study of serum Hcy and polymorphisms of Hcy metabolic enzymes in 192 families affected by congenital heart disease. Beijing Da Xue Xue Bao 2005;37: 75-80.
29. Shaw GM, Lu W, Zhu H, et al. 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. BMC Med Genet 2009;10:49.
30. Chen LH, Liu ML, Hwang HY, et al. Human methionine synthase. cDNA cloning, gene localization, and expression. J Biol Chem 1997;272:3628-34.
31. Matthews RG, Sheppard C, Goulding C. Methylenetetrahydrofolate reductase and methionine synthase: biochemistry and molecular biology. Eur J Pediatr 1998;157:S54-9.
32. Gos Jr. M, Szpecht-Potocka A. Genetic basis of neural tube defects. II. Genes correlated with folate and methionine metabolism. J Appl Genet 2002;43:511-24.
33. Bassuk AG, Kibar Z. Genetic basis of neural tube defects. Semin Pediatr Neurol 2009;16:101-10.
34. van der Put NM, van der Molen EF, Kluijtmans LA, et al. Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease. Q J M 1997;90:511-17.
35. Zhang G, Dai C. Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases. Thromb Res 2001; 104:187-95.
36. Zhu WL, Cheng J, Dao JJ, et al. Polymorphism of methionine synthase gene in nuclear families of congenital heart disease. Biomed Environ Sci 2004;17:57-64.
37. Chen J, Stampfer MJ, Ma J, et al. Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction. Atherosclerosis 2001;154:667-72.
38. Morita H, Kurihara H, Sugiyama T, et al. Polymorphism of the methionine synthase gene: association with homocysteine metabolism and late-onset vascular diseases in the Japanese population. Arterioscler Thromb Vasc Biol 1999;19:298-302.
39. Guéant-Rodriguez RM, Rendeli C, Namour B, et al. Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans. Neurosci Lett 2003;344:189-92.
40. Pietrzyk JJ, Bik-Multanowski M, Sanak M, Twardowska M. Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida. J Appl Genet 2003;44:111-13.
41. Dunlevy LP, Chitty LS, Burren KA, et al. Abnormal folate metabolism in foetuses affected by neural tube defects. Brain 2007; 130:1043-9.
42. Goldmuntz E, Woyciechowski S, Renstrom D, et al. Variants of folate metabolism genes and the risk of conotruncal cardiac defects. Circ Cardiovasc Genet 2008;1:126-32.
43. Kraus JP. Biochemistry and molecular genetics of cystathionine beta-synthase deficiency. Eur J Pediatr 1998;157:S50-3.
44. Song XM, Zheng XY, Zhu WL, et al. Relationship between polymorphism of cystathionine beta-synthase gene and congenital heart disease in Chinese nuclear families. Biomed Environ Sci 2006;19:452-6.
45. Chango A, Willequet F, Fillon-Emery N, et al. The single nucleotide polymorphism (80G-4A) of reduced folate carrier gene in trisomy 21. Am J Clin Nutr 2004;80:1667-9.
46. Whetstine JR, Gifford AJ, Witt T, et al. Single nucleotide polymorphisms in the human reduced folate carrier: characterization of a high-frequency G/A variant at position 80 and transport properties of the His(27) and Arg(27) carriers. Clin Cancer Res 2001;7:3416-22.
47. Stanis?awska-Sachadyn A, Mitchell LE, Woodside JV, et al. The reduced folate carrier (SLC19A1) c.80G4A polymorphism is associated with red cell folate concentrations among women. Ann Hum Genet 2009;73:484-91.
48. Morin I, Devlin AM, Leclerc D, et al. Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk. Mol Genet Metab 2003;79:197-200.
49. O'Leary VB, Pangilinan F, Cox C, et al. Reduced folate carrier polymorphisms and neural tube defect risk. Mol Genet Metab 2006; 87:364-9.
50. Pei L, Liu J, Zhang Y, et al. Association of reduced folate carrier gene polymorphism and maternal folic acid use with neural tube defects. Am J Med Genet B Neuropsychiatr Genet 2009;150B: 874-8.
51. Shang Y, Zhao H, Niu B, et al. Correlation of polymorphism of MTHFRs and RFC-1 genes with neural tube defects in China. Birth Defects Res A Clin Mol Teratol 2008;82:3-7.
52. De Marco P, Calevo MG, Moroni A, et al. Reduced folate carrier polymorphism (80A-4G) and neural tube defects. Eur J Hum Genet 2003;11:245-52.
53. Maddox DM, Manlapat A, Roon P, et al. Reduced-folate carrier (RFC) is expressed in placenta and yolk sac, as well as in cells of the developing forebrain, hindbrain, neural tube, craniofacial region, eye, limb buds and heart. BMC Dev Biol 2003;3:6.
54. Shaw GM, Zhu H, Lammer EJ, et al. Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial and conotruncal heart defects. Am J Epidemiol 2003;158:747-52.
55. Shaw GM, Lammer EJ, Zhu H, et al. Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am J Med Genet 2002;108:1-6.
56. Johnson WG, Stenroos ES, Spychala JR, et al. New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): a risk factor for spina bifida acting in mothers during pregnancy? Am J Med Genet A 2004;124A:339-45.
57. Parle-McDermott A, Pangilinan F, Mills JL, et al. The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population. Am J Med Genet A 2007;143A:1174-80.
58. van der Linden IJ, Nguyen U, Heil SG, et al. Variation and expression of dihydrofolate reductase (DHFR) in relation to spina bifida. Mol Genet Metab 2007;91:98-103.
59. Kim SR, Ozawa S, Saito Y, et al. Fourteen novel genetic variations and haplotype structures of the TYMS gene encoding human thymidylate synthase (TS). Drug Metab Pharmacokinet 2006;21: 509-16.
60. Takayanagi A, Kaneda S, Ayusawa1 D, Seno T. Intron 1 and the 59-flanking region of the human thymidylate synthase gene as a regulatory determinant of growth-dependent expression. Nucleic Acids Res 1992;20:4021-5.
61. Zhao JY, Sun JW, Gu ZY, et al. Genetic polymorphisms of the TYMS gene are not associated with congenital cardiac septal defects in a Han Chinese population. PLoS One 2012;7:e31644.
62. Trinh BN, Ong CN, Coetzee GA, et al. Thymidylate synthase: a novel genetic determinant of plasma homocysteine and folate levels. Hum Genet 2002;111:299-302.
63. Ulrich CM, Bigler J, Bostick R, et al. Thymidylate synthase promoter polymorphism, interaction with folate intake, and risk of colorectal adenomas. Cancer Res 2002;62:3361-4.
64. Kawate H, Landis DM, Loeb LA. Distribution of mutations in human thymidylate synthase yielding resistance to 5-fluorodeoxyuridine. J Biol Chem 2002;277:36304-11.
65. Volcik KA, Shaw GM, Zhu H, et al. Associations between polymorphisms within the thymidylate synthase gene and spina bifida. Birth Defects Res A Clin Mol Teratol 2003;67:924-8.
66. Lupo PJ, Mitchell LE, Goldmuntz E. NAT1, NOS3, and TYMS genotypes and the risk of conotruncal cardiac defects. Birth Defects Res A Clin Mol Teratol 2011;91:61-5.
67. Namour F, Guy M, Aimone-Gastin I, et al. Isoelectrofocusing phenotype and relative concentration of transcobalamin II isoproteins related to the codon 259 Arg/Pro polymorphism. Biochem Biophys Res Commun 1998;251:769-74.
68. Garrod MG, Allen LH, Haan MN, et al. Transcobalamin C776G genotype modifies the association between vitamin B12 and homocysteine in older Hispanics. Eur J Clin Nutr 2010;64:503-9.
69. Miller JW, Ramos MI, Garrod MG, et al. Transcobalamin II 775G4C polymorphism and indices of vitamin B12 status in healthy older adults. Blood 2002;100:718-20.
70. Lievers KJ, Afman LA, Kluijtmans LA, et al. Polymorphisms in the transcobalamin gene: association with plasma homocysteine in healthy individuals and vascular disease patients. Clin Chem 2002; 48:1383-9.
71. Afman LA, Lievers KJ, van der Put NM, et al. Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects. Eur J Hum Genet 2002;10:433-8.
72. Brouns R, Ursem N, Lindemans J, et al. Polymorphisms in genes related to folate and cobalamin metabolism and the associations with complex birth defects. Prenat Diagn 2008;28:485-93.
73. Martinelli M, Scapoli L, Palmieri A, et al. 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 2006;27:294.
74. Pietrzyk JJ, Bik-Multanowski M. 776C4G polymorphism of the transcobalamin II gene as a risk factor for spina bifida. Mol Genet Metab 2003;80:364.
75. Aléssio AC, Höehr NF, Siqueira LH, et al. Polymorphism C776G in the transcobalamin II gene and homocysteine, folate and vitamin B12 concentrations. Association with MTHFR C677T and A1298C and MTRR A66G polymorphisms in healthy children. Thromb Res 2007;119:571-7.
76. Lupo PJ, Goldmuntz E, Mitchell LE. Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects. J Biomed Biotechnol 2010;2010:630940.
77. Lu SC. Regulation of hepatic glutathione synthesis: current concepts and controversies. FASEB J 1999;13:1169-83.
78. Huang RF, Hsu YC, Lin HL, Yang FL. Folate depletion and elevated plasma homocysteine promote oxidative stress in rat livers. J Nutr 2001;131:33-8.
79. Konwar R, Manchanda PK, Chaudhary P, et al. Glutathione S-transferase (GST) gene variants and risk of benign prostatic hyperplasia: a report in a North Indian population. Asian Pac J Cancer Prev 2010;11:1067-72.
80. Allen M, Zou F, Chai HS, et al. Glutathione S-transferase omega genes in Alzheimer and Parkinson disease risk, age-at-diagnosis and brain gene expression: an association study with mechanistic implications. Mol Neurodegener 2012;7:13.
81. Whitbread AK, Tetlow N, Eyre HJ, et al. Characterization of the human Omega class glutathione transferase genes and associated polymorphisms. Pharmacogenetics 2003;13:131-44.
82. Schmuck EM, Board PG, Whitbread AK, et al. Characterization of the monomethylarsonate reductase and dehydroascorbate reductase activities of Omega class glutathione transferase variants: implications for arsenic metabolism and the age-at-onset of Alzheimer's and Parkinson's diseases. Pharmacogenet Genomics 2005;15: 493-501.
83. Sasaki H, Hikosaka Y, Okuda K, et al. NFE2L2 gene mutation in male Japanese squamous cell carcinoma of the lung. J Thorac Oncol 2010;5:786-9.
84. Hayes JD, McMahon M, Chowdhry S, Dinkova-Kostova AT. Cancer chemoprevention mechanisms mediated through the Keap1-Nrf2 pathway. Antioxid Redox Signal 2010;13:1713-48.