Genetic variants reducing MTR gene expression increase the risk of congenital heart disease in Han Chinese populations

European Heart Journal

Volumn 35, Issue 11, 2014, Pages 733-742

  Zhao, Jian Yuan ^a,b   Qiao, Bin ^c   Duan, Wen Yuan ^c   Gong, Xiao Hong ^a   Peng, Qian Qian ^a   Jiang, Song Shan ^d   Lu, Chen Qi ^a   Chen, Yi Jiang ^e   Shen, Hong Bing ^f   Huang, Guo Ying ^g   Jin, Li ^a,g   Wang, Hong Yan ^a,g  

^a FUDAN UNIVERSITY   (China)

^b Institute of Sports Science and Technology   (China)

^c JINAN MILITARY GENERAL HOSPITAL   (China)

^d SUN YAT SEN UNIVERSITY   (China)

^e THE FIRST AFFILIATED HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

^f NANJING MEDICAL UNIVERSITY   (China)

^g FUDAN UNIVERSITY   (China)

Author keywords

Congenital heart disease; Genetic variant; Homocysteine; Methionine synthase

Indexed keywords

HOMOCYSTEINE; MESSENGER RNA; METHIONINE SYNTHASE; MICRORNA; TRANSCRIPTION FACTOR;

ALLELE; ARTICLE; BINDING AFFINITY; CARDIOVASCULAR RISK; CASE CONTROL STUDY; CHROMATIN IMMUNOPRECIPITATION; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DOWN REGULATION; GEL MOBILITY SHIFT ASSAY; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; LUCIFERASE ASSAY; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

CONGENITAL HEART DISEASE; GENETIC VARIANT; HOMOCYSTEINE; METHIONINE SYNTHASE;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; DNA METHYLATION; FERREDOXIN-NADP REDUCTASE; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEART DEFECTS, CONGENITAL; HOMOCYSTEINE; HUMANS; HYPERHOMOCYSTEINEMIA; MICRORNAS; RISK FACTORS; TRANSCRIPTION, GENETIC;

EID: 84895804449     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/eht221     Document Type: Article

References (32)

1. Hoffman JIE, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002;39:1890-1900. (Pubitemid 34628268)
2. Van der Bom T, Carla Zomer A, Zwinderman AH, Meijboom FJ, Bouma BJ, Mulder BJM. The changing epidemiology of congenital heart disease. Nat Rev Cardiol 2011;8:50-60
3. Botto LD, Mulinare J, Erickson JD. Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps. Am J Med Genet A 2003;121: 95-101. (Pubitemid 37075511)
4. Botto LD, Olney RS, Erickson JD. Vitamin supplements and the risk for congenital anomalies other than neural tube defects. Am J Med Genet C 2004;125:12-21. (Pubitemid 38140298)
5. Bailey LB, Berry RJ. Folic acid supplementation and the occurrence of congenital heart defects, orofacial clefts, multiple births, and miscarriage. Am J Clin Nutr 2005; 81:1213-7S.
6. Van Beynum IM, Kapusta L, den Heijer M, VermeulenSita HHM, Kouwenberg M, Daniels O, Blom HJ. Maternal MTHFR 677C.T is a risk factor for congenital heart defects: Effect modification by periconceptional folate supplementation. Eur Heart J 2006;27:981-987
7. Hobbs CA, James SJ, Parsian A, Krakowiak PA, Jerniqan S, Greenhaw JJ, Lu Y, Cleves MA. Congenital heart defects and genetic variants in the methylenetetrahydrofolate reductase gene. J Med Genet 2006;43:162-166. (Pubitemid 43259631)
8. Junker R, Kotthoff S, Vielhaber H, Halimeh S, Kosch A, Koch HG, Kassenbohmer R, Heineking B, Nowak-Gottl U. Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. Cardiovasc Res 2001;51: 251-254. (Pubitemid 32695535)
9. Shaw GM, Iovannisci DM, YangW, Finnell RH, Carmichael SL, Cheng S, Lammer EJ. Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes.AmJ Med Genet A 2005; 138:21-26
10. Storti S, Vittorini S, Iascone MR, Sacchelli M, Collavoli A, Ripoli A, Cocchi G, Biaqini A, Clerico A. Association between 5,10- methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects. Clin Chem Lab Med 2003;41:276-280. (Pubitemid 36432832)
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;184:806-817. (Pubitemid 32368098)
12. Van-Beynum IM, den Heijer M, Blom HJ, Kapusta L. The MTHFR 677C.T polymorphism and the risk of congenital heart defects: A literature review and meta-Analysis. QJM 2007;100:743-753
13. Barbosa PR, Stabler SP, Machado ALK, Braga RC, Hirata RD, Hirata MH, Sampaio-Neto LF, Allen RH, Guerra-Shinohara EM. Association between decreased vitamin levels and MTHFR, MTRand MTRR gene polymorphisms as determinants of elevated total homocysteine concentrations in pregnantwomen. Eur J Clin Nutr 2008; 62:1010-1021
14. Kirke PN, Molloy AM, Daly LE, Burke H,Weir DG, Scott JM. Maternal plasma folate and vitamin-b12 are independent risk-factors for neural-Tube defects. QJM 1993;86: 703-708
15. Steegers-Theunissen RPM, Boers GHJ, Trijbels FJM, Finkelstein JD, Blom HJ, Thomas CM, Borm GF, Wouters MG, Eskes TK. Maternal hyperhomocysteinemia - A risk factor for neural-Tube defects. Metab Clin Exp 1994;43:1475-1480. (Pubitemid 24382696)
16. Mills JL, McPartlin JM, Kirke PN, Lee YJ, Conley MR,Weir DG, Scott JM. Homocysteine metabolism in pregnancies complicated by neural-Tube defects. Lancet 1995; 345:149-151
17. Swanson DA, Liu ML, Baker PJ, Garrett L, Stitzel M, Wu J, Harris M, Banerjee R, Shane B, Brody LC. Targeted disruption of the methionine synthase gene in mice. Mol Cell Biol 2001;21:1058-1065
18. Fisher MC, Zeisel SH, Mar MH, Sadler TW. Perturbations in choline metabolism cause neural tube defects in mouse embryos in vitro. FASEB J 2002;16:619-621
19. Sturman JA, Gaull G, Raiha NCR. Absence of cystathionase in human fetal liver: Is cystine essential? Science 1970;169:74-76
20. Gaull GE, Sturman JA, Raiha NCR. Development of mammalian sulfur metabolism: Absence of cystathionase in human fetal tissues. Pediatr Res 1972;6:538-547
21. Gaull GE, von BergW, Raiha NCR, Sturman JA. Development of methyltransferase activities of human fetal tissues. Pediatr Res 1973;7:527-533
22. Van-Aerts LAGJM, Poirot CM, Herberts CA, Blom HJ, De Abreu RA, Trijbels JM, Eskes TK, Peereboom-Stegeman JH, Noordhoek J.Development of methionine synthase, cystathionine-b-synthase and S-Adenosyl-homocysteine hydrolase during gestation in rats. J Reprod Fertil 1995;103:227-232
23. Kalhan SC, Bier DM. Protein and amino acid metabolism in the human newborn. Annu Rev Nutr 2008;28:389-410
24. Zhao JY, Yang XY, Gong XH, Gu ZY, Duan WY,Wang J, Ye ZZ, Shen HB, Shi KH, Hou J, Huang GY, Jin L, Qiao B,Wang HY. Functional variant in methionine synthase reductase intron-1 significantly increases the risk of congenital heart disease in the Han Chinese population. Circulation 2012;125:482-490
25. Botto LD, Lin AE, Riehle-Colarusso T, Malik S, CorreaA, National Birth Defects Prevention Study. Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies. Birth Defects Res Part A Clin Mol Teratol 2007;79:714-727
26. Bruneau BG. The developmental genetics of congenital heart disease. Nature 2008; 451:943-948. (Pubitemid 351301750)
27. Mishra PJ, Humeniuk R, Mishra PJ, Longo-Sorbello GS, Banerjee D, Bertino Jr. A miR-24 microRNA binding-site polymorphism in dihydrofolate reductase gene leads to methotrexate resistance. Proc Natl Acad Sci USA 2007;104: 13513-13518. (Pubitemid 47293976)
28. Zhao JY, YangXY, Shi KH, Sun SN, Hou J, Ye ZZ,Wang J, DuanWY, Qiao B, Chen YJ, Shen HB, Huang GY, Jin L, Wang HY. A functional variant in the cystathionine b-synthase gene promoter significantly reduces congenital heart disease susceptibility in a Han Chinese population. Cell Res 2013;23:242-253
29. TanakaT, Scheet P, Giusti B, Bandinelli S, PirasMG, Usala G, Lai S, Mulas A, Corsi AM, Vestrini A, Sofi F, Gori AM, Abbate R, Guralink J, Singleton A, Abecasis GR, Schlessinger D, Uda M, Ferrucci L. Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am J Hum Genet 2009;84:477-482
30. Hazra A, Kraft P, Lazarus R, Chen C, Chanock SJ, Jacques P, Selhub J, Hunter DJ. Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. Hum Mol Genet 2009;18:4677-4687
31. Han M, Serrano MC, Lastra-Vicente R, Brinez P, Acharya G, Huhta JC, Chen R, Linask KK. Folate rescues lithium-, homocysteine- And Wnt3A- induced vertebrate cardiac anomalies. Dis Model Mech 2009;2:467-478
32. Rosenquists TH, Ratashak A, Selhub J. Homocysteine induces congenital defects of the heart and neural tube: Effect of folic acid. Proc Natl Acad Sci USA 1996;93: 15227-15232. (Pubitemid 27009581)