ECE1 polymorphisms may contribute to the susceptibility of sporadic congenital heart disease in a Chinese population

DNA and Cell Biology

Volumn 31, Issue 8, 2012, Pages 1425-1430

  Wang, Yu ^a   Liu, Yiming ^a   Peng, Wei ^a   Wang, Meilin ^b   Sun, Jian ^a   Zhang, Zhengdong ^b   Mo, Xuming ^a  

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

^b NANJING MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYSTEINE; ENDOTHELIN CONVERTING ENZYME; GLYCINE; THREONINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE CONTROL STUDY; CHILD; CHINESE; CLINICAL ASSESSMENT; CONGENITAL HEART DISEASE; CONTROLLED STUDY; CYANOTIC HEART DISEASE; DIAGNOSTIC TEST ACCURACY STUDY; FALLOT TETRALOGY; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HEART VENTRICLE SEPTUM DEFECT; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MALE; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK FACTOR; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

ASIAN CONTINENTAL ANCESTRY GROUP; ASPARTIC ACID ENDOPEPTIDASES; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEART DISEASES; HUMANS; MALE; METALLOENDOPEPTIDASES; POLYMORPHISM, GENETIC; RISK FACTORS;

EID: 84864585574     PISSN: 10445498     EISSN: 15577430     Source Type: Journal    
DOI: 10.1089/dna.2012.1626     Document Type: Article

References (18)

1. Bruneau, B.G. (2008). The developmental genetics of congenital heart disease. Nature 451, 943-948.
2. Clouthier, D.E., Hosoda, K., et al. (1998). Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. Development 125, 813-824.
3. Dubey, R.K., Jackson, E.K., et al. (2001). Estradiol metabolites inhibit endothelin synthesis by an estrogen receptorindependent mechanism. Hypertension 37(2 Part 2), 640-644.
4. Funalot, B., Courbon, D., et al. (2004). Genes encoding endothelin- converting enzyme-1 and endothelin-1 interact to influence blood pressure in women: The EVA study. J Hypertens 22, 739-743.
5. Funke-Kaiser, H., Reichenberger, F., et al. (2003). Differential binding of transcription factor E2F-2 to the endothelin-converting enzyme-1b promoter affects blood pressure regulation. Hum Mol Genet 12, 423-433.
6. Hoffman, J.I., and Kaplan, S. (2002). The incidence of congenital heart disease. J Am Coll Cardiol 39, 1890-1900.
7. Irons, C.E., Flynn, M.A., et al. (1996). Endothelin and PDGF enhance arachidonic acid release and DNA synthesis in vascular smooth muscle cells. Am J Physiol 270(6 Pt 1), C1642-C1646.
8. Jenkins, K.J., Correa, A., et al. (2007). 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 115, 2995-3014.
9. Jin, Z., Luxiang, C., et al. (2009). Endothelin-converting enzyme- 1 promoter polymorphisms and susceptibility to sporadic late-onset Alzheimer's disease in a Chinese population. Dis Markers 27, 211-215.
10. Jin, Z., Luxiang, C., et al. (2009). C-338A polymorphism of the endothelin-converting enzyme-1 gene and the susceptibility to carotid atherosclerosis. Microvasc Res 78, 128-131.
11. Kirby, M.L., Gale, T.F., et al. (1983). Neural crest cells contribute to normal aorticopulmonary septation. Science 220, 1059-1061.
12. Kurihara, Y., Kurihara, H., et al. (1995). Aortic arch malformations and ventricular septal defect in mice deficient in endothelin- 1. J Clin Invest 96, 293-300.
13. Levy, N., Gordin, M., et al. (2001). Distinct cellular localization and regulation of endothelin-1 and endothelin-converting enzyme-1 expression in the bovine corpus luteum: Implications for luteolysis. Endocrinology 142, 5254-5260.
14. Polderman, K.H., Stehouwer, C.D., et al. (1993). Influence of sex hormones on plasma endothelin levels. Ann Intern Med 118, 429-432.
15. Scacchi, R., Gambina, G., et al. (2008). C-338A polymorphism of the endothelin-converting enzyme (ECE-1) gene and the susceptibility to sporadic late-onset Alzheimer's disease and coronary artery disease. Dis Markers 24, 175-179.
16. Wang, L.S., Tang, N.P., et al. (2007). Endothelin-converting enzyme- 1b C-338A polymorphism is associated with the increased risk of coronary artery disease in Chinese population. Clin Chim Acta 384, 75-79.
17. Webb, C. M., Ghatei, M. A., et al. (2000). 17beta-estradiol decreases endothelin-1 levels in the coronary circulation of postmenopausal women with coronary artery disease. Circulation 102, 1617-1622.
18. Yanagisawa, H., Yanagisawa, M., et al. (1998). Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme- 1 gene. Development 125, 825-836.