Common 894G>T single nucleotide polymorphism in the gene coding for endothelial nitric oxide synthase (eNOS) and risk of congenital heart defects

Clinical Chemistry and Laboratory Medicine

Volumn 46, Issue 10, 2008, Pages 1369-1375

  Van Beynum, Ingrid M ^a   Mooij, Christiaan ^a   Kapusta, Livia ^a   Heil, Sandra ^a   Den Heijer, Martin ^a   Blom, Henk J ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Congenital heart defects; eNOS 894G>T single nucleotide polymorphism; Folic acid; Smoking

Indexed keywords

ENDOTHELIAL NITRIC OXIDE SYNTHASE; FOLIC ACID;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CARDIOVASCULAR RISK; CASE CONTROL STUDY; CHILD; CIGARETTE SMOKING; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; ENVIRONMENTAL EXPOSURE; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HIGH RISK PATIENT; HUMAN; HUMAN CELL; INFANT; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MATERNAL BEHAVIOR; PREGNANCY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VITAMIN SUPPLEMENTATION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DIETARY SUPPLEMENTS; FEMALE; FOLIC ACID; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MATERNAL BEHAVIOR; MIDDLE AGED; MOTHERS; NITRIC OXIDE SYNTHASE TYPE III; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; SMOKING; YOUNG ADULT;

MUS;

EID: 53849089232     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2008.271     Document Type: Article

References (32)

1. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002;39:1890-900.
2. Eurocat Northern Netherlands. Prevalence of congenital malformations in the Northern Netherlands 1981-2005. Updated August 1, 2007. http://www.rug.nl/ umcg/faculteit/disciplinegroepen/MedischeGenetica/Eurocat/professionals/ tabellen.
3. Pierpont ME, Basson CT, Benson DW, Gelb BD, Giglia TM, Goldmuntz E, et al. Genetic basis for congenital heart defects: current knowledge. A scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young. Circulation 2007:115:3015-38.
4. Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, et al. Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 2007;115:2995-3014.
5. Czeizel A. Reduction of urinary tract and cardiovascular defects by periconceptional multivitamin supplementation. Am J Med Genet 1996;62:179-83.
6. Czeizel AE, Dobo M, Vargha P. Hungarian cohort-controlled trial of periconceptional multivitamin supplementation shows a reduction in certain congenital abnormalities. Birth Defects Res A 2004;70:853-61.
7. Junker R, Kotthoff S, Vielhaber H, Halimeh S, Kosch A, Koch HG, et al. Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. Cardiovasc Res 2001;51:251-4.
8. 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;184:806-17.
9. van Beynum IM, Kapusta L, den Heijer M, Vermeulen SH, Kouwenberg M, Daniëls O, 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.
10. Shaw GM, Iovannisci DM, Yang W, Finnell RH, Carmichael SL, Cheng S, et al. Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes. Am J Med Genet A 2005;138:21-6.
11. Bloch W, Fleischmann BK, Lorke DE, Andressen C, Hops B, Hescheler J, et al. Nitric oxide synthase expression and role during cardiomyogenesis. Cardiovasc Res 1999;43:675-84.
12. Feng Q, Song W, Lu X, Hamilton JA, Lei M, Peng T, et al. Development of heart failure and congenital septal defects in mice lacking endothelial nitric oxide synthase. Circulation 2002;106:873-9.
13. Lee TC, Zhao YD, Courtman DW, Stewart DJ. Abnormal aortic valve development in mice lacking endothelial nitric oxide synthase. Circulation 2000;101:2345-8.
14. Moncada S, Higgs A. The L-arginine-nitric oxide pathway. N Engl J Med 1993;329:2002-12.
15. Chung HT, Pae HO, Choi BM, Billiar TR, Kim YM. Nitric oxide as a bioregulator of apoptosis. Biochem Biophys Res Commun 2001;282:1075-9.
16. Brown KS, Kluijtmans LA, Young IS, Woodside J, Yarnell JW, McMaster D, et al. Genetic evidence that nitric oxide modulates homocysteine. The NOS3 894 genotype is a risk factor for hyperhomocysteinemia. Arterioscler Thromb Vasc Biol 2003;23:1014-20.
17. Barua RS, Ambrose JA, Eales-Reynolds LJ, DeVoe MC, Zervas JG, Saha DC. Dysfunctional endothelial nitric oxide biosynthesis in healthy smokers with impaired endothelium-dependent vasodilatation. Circulation 2001;104:1905-10.
18. van Beynum IM, den Heijer M, Thomas CM, Afman L, Oppenraay-van Emmerzaal D, Blom HJ. Total homocysteine and its predictors in Dutch children. Am J Clin Nutr 2005;81:1110-6.
19. Keijzer MB, den Heijer M, Blom HJ, Bos GM, Willems HP, Gerrits WB, et al. Interaction between hyperhomocysteinemia, mutated methylenetetrahydrofolate reductase (MTHFR) and inherited thrombophilic factors in recurrent venous thrombosis. Thromb Haemost 2002;88:723-8.
20. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
21. Hingorami AD, Liang CF, Fatibene J, Lyon A, Monteith S, Parsons A, et al. A common variant of the endothelial nitric oxide synthase (Glu298-> Asp) is a major risk factor for coronary artery disease in the UK. Circulation 1999;100:1515-20.
22. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993;52:506-16.
23. Ewens WJ, Spielman RS. The transmission/disequilibrium test: history, subdivision, and admixture. Am J Hum Genet 1995;57:455-64.
24. Veldman BA, Spiering W, Doevendans PA, Vervoort G, Kroon AA, de Leeuw PW, et al. The Glu298Asp polymorphism of the NOS 3 gene as a determinant of the baseline production of nitric oxide. J Hypertens 2002;20:2023-7.
25. Senthil D, Raveendran M, Shen YH, Utama B, Dudley D, Wang J, et al. Genotype-dependent expression of endothelial nitric oxide synthase (eNOS) and its regulatory proteins in cultured endothelial cells. DNA Cell Biol 2005;24:218-24.
26. Roberts WC, Ko JM. Frequency by decades of unicuspid, bicuspid, and tricuspid aortic valves in adults having isolated aortic valve replacement for aortic stenosis, with or without associated aortic regurgitation. Circulation 2005;111:920-5.
27. Zhao X, Lu X, Feng Q. Deficiency in endothelial nitric oxide synthase impairs myocardial angiogenesis. Am J Physiol Heart Circ Physiol 2002;283:H2371-8.
28. Kim Y-M, Talanian RV, Billiar TR. Nitric oxide inhibits apoptosis by preventing increases in caspase-3-like activity via two distinct mechanisms. J Biol Chem 1997;272:31138-48.
29. Rosenquist TH, Ratashak SA, Selhub J. Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid. Proc Natl Acad Sci USA 1996;93:15227-32.
30. Kapusta L, Haagmans ML, Steegers EA, Cuypers MH, Blom HJ, Eskes TK. Congenital heart defects and maternal derangement of homocysteine metabolism. J Pediatr 1999;135:773-4.
31. Hobbs C, Cleves MA, Melnyk S, Zhao W, James JS. Congenital heart defects and abnormal maternal biomarkers of methionine and homocysteine metabolism. Am J Clin Nutr 2005;81:147-53.
32. Verkleij-Hagoort AC, Verlinde M, Ursem NT, Lindemans J, Helbing WA, Ottenkamp J, et al. Maternal hyperhomocysteinaemia is a risk factor for congenital heart disease. Br J Obstet Gynaecol 2006;113:1412-18.