VEGF C-634G polymorphism is associated with protection from isolated ventricular septal defect: Case-control and TDT studies

European Journal of Human Genetics

Volumn 15, Issue 12, 2007, Pages 1246-1251

  Xie, Jun ^a,b   Yi, Long ^a   Xu, Zheng Feng ^b   Mo, Xu Ming ^c   Hu, Ya Li ^a   Wang, Dong Jin ^a   Ren, Hao Zhen ^a   Han, Bing ^a   Wang, Yong ^a   Yang, Chi ^a   Zhao, Ye Lin ^a   Shi, Dong Quan ^a   Jiang, Yong Zhong ^c   Shen, Li ^c   Qiao, Di ^a   Chen, Shi Lin ^a   Yu, Bao Jun ^a  

^a MEDICAL SCHOOL OF NANJING UNIVERSITY   (China)

^b WOMEN S HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

^c CHILDREN S HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

VASCULOTROPIN C;

ADOLESCENT; ARTICLE; CASE CONTROL STUDY; CHILD; CHINESE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MAJOR CLINICAL STUDY; MALE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ALLELES; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CYTOSINE; FAMILY; FEMALE; GUANINE; HAPLOTYPES; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; INFANT; LINKAGE DISEQUILIBRIUM; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; VASCULAR ENDOTHELIAL GROWTH FACTOR A;

EID: 36348991934     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201890     Document Type: Article

References (30)

1. Hoffman JI, Kaplan S: The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39: 1890-1900.
2. Garg V, Kathiriya IS, Barnes R et al: GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 2003; 424: 443-447.
3. Benson DW, Silberbach GM, Kavanaugh-McHugh A et al: Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 1999; 104: 1567-1573.
4. Mirza G, Williams RR, Mohammed S et al: Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. Eur J Hum Genet 2004; 12: 718-728.
5. Yamagishi H, Maeda J, Tokumura M et al: Ventricular septal defect associated with microdeletions of chromosome 22q11.2. Clin Genet 2000; 58: 493-496.
6. Ferrara N, Gerber HP, LeCouter J: The biology of VEGF and its receptors. Nat Med 2003; 9: 669-676.
7. Fukumura D, Xavier R, Sugiura T et al: Tumor induction of VEGF promoter activity in stromal cells. Cell 1998; 94: 715-725.
8. Aiello LP, Avery RL, Arrigg PG et al: Vascular endothelial growth factor in ocular fluid of patients with diabetic retinopathy and other retinal disorders. N Engl J Med 1994; 331: 1480-1487.
9. Kim SH, Choi YM, Choung SH et al: Vascular endothelial growth factor gene +405 C/G polymorphism is associated with susceptibility to advanced stage endometriosis. Hum Reprod 2005; 20: 2904-2908.
10. Dor Y, Camenisch TD, Itin A et al: A novel role for VEGF in endocardial cushion formation and its potential contribution to congenital heart defects. Development 2001; 128: 1531-1538.
11. Miquerol L, Langille BL, Nagy A: Embryonic development is disrupted by modest increases in vascular endothelial growth factor gene expression. Development 2000; 127: 3941-3946.
12. Atalmans I, Lambrechts D, De Smet F et al: VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med 2003; 9: 173-182.
13. Lambrechts D, Devriendt K, Driscoll DA et al: Low expression VEGF haplotype increases the risk for tetralogy of Fallot: A family based association study. J Med Genet 2005; 42: 519-522.
14. Vannay A, Vasarhelyi B, Kornyei M et al: Single-nucleotide polymorphisms of VEGF gene are associated with risk of congenital valvuloseptal heart defects. Am Heart J 2006; 151: 878-881.
15. Brogan IJ, Khan N, Isaac K et al: Novel polymorphisms in the promoter and 5′ UTR regions of the human vascular endothelial growth factor gene. Hum Immunol 1999; 60: 1245-1249.
16. Awata T, Kurihara S, Takata N et al: Functional VEGF G-634C polymorphism is associated with development of diabetic macular edema and correlated with macular retinal thickness in type 2 diabetes. Biochem Biophys Res Commun 2005; 333: 679-685.
17. Kirby ML, Waldo KL: Neural crest and cardiovascular patterning. Circ Res 1995; 77: 211-215.
18. Yi L, Xu ZF, Mo XM et al: New tetranucleotide STRP markers for detecting the 22q11.2 deletion. Mol Cell Probes 2006; 20: 359-365.
19. Zhang XQ, Xu ZF, Yi L et al: Rapid detection of the 22q1 1 microdeletion with quantitative real-time polymerase chain reaction. J Clin Pediatr 2006; 21: 1409-1410, 1422.
20. Walsh PS, Metzger DA, Higuchi R: Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques 1991; 10: 506-513.
21. Webb NJ, Bottomley MJ, Watson CJ et al: Vascular endothelial growth factor (VEGF) is released from platelets during blood clotting: implications for measurement of circulating VEGF levels in clinical disease. Clin Sci 1998; 94: 395-404.
22. Shi YY, He L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res 2005; 15: 97-98.
23. Kruglyak L, Daly MJ, Reeve-Daly MP et al: Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 1996; 58: 1347-1363.
24. Cardon LR, Palmer LJ: Population stratification and spurious allelic association. Lancet 2003; 361: 598-604.
25. Perneger TV: What's wrong with Bonferroni adjustments. BMJ 1998; 316: 1236-1238.
26. Berrahmoune H, Herbeth B, Lamont JV et al: Heritability for plasma VEGF concentration in the Stanislas family study. Ann Hum Genet 2007; 71: 54-63.
27. Watson CJ, Webb NJ, Bottomley MJ et al: Identification of polymorphisms within the vascular endothelial growth factor (VEGF) gene: correlation with variation in VEGF protein production. Cytokine 2000; 12: 1232-1235.
28. Awata T, Inoue K, Kurihara S et al: A common polymorphism in the 5′-untranslated region of the VEGF gene is associated with diabetic retinopathy in type 2 diabetes. Diabetes 2002; 51: 1635-1639.
29. Lambrechts D, Storkebaum E, Morimoto M et al: VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet 2003; 34: 383-394.
30. Carmeliet P, Ferreira V, Breier G et al: Abnormal blood vessel development and lethality in embryos lacking a single VEGF allele. Nature 1996; 380: 435-439.