VEGF polymorphisms are associated with endocardial cushion defects: A family-based case-control study

Pediatric Research

Volumn 67, Issue 1, 2010, Pages 23-28

  Smedts, Huberdina P M ^a   Isaacs, Aaron ^a   De Costa, Dominique ^a   Uitterlinden, André G ^a   Van Duijn, Cornelia M ^a   Gittenberger De Groot, Adriana C ^c   Helbing, Willem A ^b   Steegers, Eric A P ^a   Steegers Theunissen, Régine P M ^a,b  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

VASCULOTROPIN;

ARTICLE; CASE CONTROL STUDY; CHILD; CONFIDENCE INTERVAL; CONTROLLED STUDY; ENDOCARDIAL CUSHION DEFECT; FAMILY STUDY; GENE FREQUENCY; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; MAJOR CLINICAL STUDY; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK REDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

CASE-CONTROL STUDIES; ENDOCARDIUM; FEMALE; GENE FREQUENCY; HUMANS; INFANT; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; VASCULAR ENDOTHELIAL GROWTH FACTOR A;

EID: 73449099244     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/PDR.0b013e3181c1b144     Document Type: Article

References (30)

1. March of Dimes Birth Defects Foundation 2006 Global Report on Birth Defects. The Hidden Toll of Dying and Disabled Children. March of Dimes Birth Defects Foundation, White Plains, New York, p 28
2. Yoon PW, Olney RS, Khoury MJ, Chavez GF, Taylor D 1997 Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study. Arch Pediatr Adolesc Med 151:1096-1103
3. Botto LD, Correa A 2003 Decreasing the burden of congenital heart anomalies: an epidemiologic evaluation of risk factors and survival. Prog Pediatr Cardiol 18:111-121
4. Steegers-Theunissen RP, Steegers EA 2003 Nutrient-gene interactions in early pregnancy: a vascular hypothesis. Eur J Obstet Gynecol Reprod Biol 106:115-117
5. Armstrong EJ, Bischoff J 2004 Heart valve development: endothelial cell signalling and differentiation. Circ Res 95:459-470
6. Dor Y, Camenisch TD, Itin A, Fishman GI, McDonald JA, Carmeliet P, Keshet E 2001 A novel role for VEGF in endocardial cushion formation and its potential contribution to congenital heart defects. Development 128:1531-1538
7. Enciso JM, Gratzinger D, Camenisch TD, Canosa S, Pinter E, Madri JA 2003 Elevated glucose inhibits VEGF-A-mediated endocardial cushion formation: modulation by PECAM-1 and MMP-2. J Cell Biol 160:605-615
8. Roybal CN, Yang S, Sun CW, Hurtado D, Vander Jagt DL, Townes TM, Abcouwer SF 2004 Homocysteine increases the expression of vascular endothelial growth factor by a mechanism involving endoplasmic reticulum stress and transcription factor ATF4. J Biol Chem 279:14844-14852
9. Van den Akker NM, Molin DG, Peters PP, Maas S, Wisse LJ, van Brempt R, van Munsteren CJ, Bartelings MM, Poelmann RE, Carmeliet P, Gittenberger-de Groot AC 2007 Tetralogy of Fallot and alterations in vascular endothelial growth factor-A signaling and notch signaling in mouse embryos solely expressing the VEGF120 isoform. Circ Res 100:842-849
10. Van den Akker NM, Caolo V, Wisse LJ, Peters PP, Poelmann RE, Carmeliet P, Molin DG, Gittenberger-de Groot AC 2008 Developmental coronary maturation is disturbed by aberrant cardiac vascular endothelial growth factor expression and Notch signalling. Cardiovasc Res 78:366-375
11. Brogan IJ, Khan N, Isaac K, Hutchinson JA, Pravica V, Hutchinson IV 1999 Novel polymorphisms in the promoter and 5' UTR regions of the human vascular endothelial growth factor gene. Hum Immunol 60:1245-1249
12. Watson CJ, Webb NJ, Bottomley MJ, Brenchley PE 2000 Identification of polymorphisms within the vascular endothelial growth factor (VEGF) gene: correlation with variation in VEGF protein production. Cytokine 12:1232-1235
13. Lambrechts D, Devriendt K, Driscoll DA, Goldmuntz E, Gewillig M, Vlietinck R, Collen D, Carmeliet P 2005 Low expression VEGF haplotype increases the risk for Tetralogy of Fallot: a family based association study. J Med Genet 42:519-522
14. Vannay A, Vasarhelyi B, Kornyei M 2006 Single-nucleotide polymorphisms of VEGF gene are associated with risk of congenital valvuloseptal heart defects. Am Heart J 151:878-881
15. Xie J, Yi L, Xu ZF, Mo XM, Hu YL, Wang DJ, Ren HZ, Han B, Wang Y, Yang C, Zhao YL, Shi DQ, Jiang YZ, Shen L, Qiao D, Chen SL, Yu BJ 2007 VEGF C-634G polymorphism is associated with protection from isolated ventricular septal defect: case-control and TDT studies. Eur J Hum Genet 15:1246-1251
16. Verkleij-Hagoort AC, Verlinde M, Ursem NT, Lindemans J, Helbing WA, Otten-kamp J, Siebel FM, Gittenberger-de Groot AC, de Jonge R, Bartelings MM, Steegers EA, Steegers-Theunissen RP 2006 Maternal hyperhomocysteinaemia is a risk factor for congenital heart disease. BJOG 113:1412-1418
17. Hobbs CA, Cleves MA, Melnyk S, Zhao W, James SJ 2005 Congenital heart defects and abnormal maternal biomarkers of methionine and homocysteine metabolism. Am J Clin Nutr 81:147-153
18. Boot MJ, Steegers-Theunissen RP, Poelmann RE, van Iperen L, Gittenberger-de Groot AC 2004 Cardiac outflow tract malformations in chick embryos exposed to homocysteine. Cardiovasc Res 64:365-373
19. Botto LD, Mulinare J, Erickson JD 2003 Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps. Am J Med Genet A 121:95-101
20. Lao O, van Duijn K, Kersbergen P, de Knijff P, Kayser M 2006 Proportioning whole-genome single-nucleotide-polymorphism diversity for the identification of geographic population structure and genetic ancestry. Am J Hum Genet 78:680-690
21. International Pediatric and Congenital Cardiac Code. Available at: http://www.ipccc. net/. Accessed July 25, 2009
22. Dudbridge F 2003 Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 25:115-121
23. Barrett JC, Fry B, Maller J, Daly MJ 2005 Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265
24. Horvath S, Xu X, Laird NM 2001 The family based association test method: Strategies for studying general genotype-phenotype associations. Eur J Hum Genet 9:301-306
25. Hu YQ, Zhou JY, Sun F, Fung WK 2007 The transmission disequilibrium test and imprinting effects test based on case-parent pairs. Genet Epidemiol 31:273-287
26. Shahbazi M, Fryer AA, Pravica V 2002 Vascular endothelial growth factor gene polymorphisms are associated with acute renal allograft rejection. J Am Soc Nephrol 13:260-264
27. Lambrechts D, Storkebaum E, Morimoto M, Del-Favero J, Desmet F, Marklund SL, Wyns S, Thijs V, Andersson J, van Marion I, Al-Chalabi A, Bornes S, Musson R, Hansen V, Beckman L, Adolfsson R, Pall HS, Prats H, Vermeire S, Rutgeerts P, Katayama S, Awata T, Leigh N, Lang-Lazdunski L, Dewerchin M, Shaw C, Moons L, Vlietinck R, Morrison KE, Robberecht W, Van Broeckhoven C, Collen D, Andersen PM, Carmeliet P 2003 VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet 34:383-394
28. Boot MJ, Steegers-Theunissen RP, Poelmann RE, van Iperen L, Lindemans J, Gittenberger-de Groot AC 2003 Folic acid and homocysteine affect neural crest and neuroepithelial cell outgrowth and differentiation in vitro. Dev Dyn 227:301-308
29. EACTS Congenital Database. Available at: http://www.eactscongenitaldb. org/db/ public-reports.py?fnc=r42&dbname=database. Accessed on July 25, 2009
30. Ewens WJ, Spielman RS 1995 The transmission/disequilibrium test: history, subdivision, and admixture. Am J Hum Genet 57:455-464