Endothelial nitric oxide synthase polymorphisms associated with abnormal nitric oxide production are not over-represented in children with Down syndrome

Congenital Heart Disease

Volumn 1, Issue 4, 2006, Pages 169-174

  Cua, Clifford L ^a,b   Cooke, Glen ^b   Taylor, Mackenzie ^b   Hayes, John ^a,b   Waldon, Laurie ^b   Lipowski, Patricia ^b   Kossman, Beth ^b   Nash, Patricia L ^b  

^a NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

Down syndrome; eNOS; Gene polymorphism; Pulmonary hypertension

Indexed keywords

ENDOTHELIAL NITRIC OXIDE SYNTHASE; NITRIC OXIDE;

ARTICLE; CHI SQUARE TEST; CHILD; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DOWN SYNDROME; FALLOT TETRALOGY; FEMALE; GENETIC POLYMORPHISM; GENOTYPE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; LUNG ATRESIA; MAJOR CLINICAL STUDY; MALE; PATENT DUCTUS ARTERIOSUS; PREVALENCE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RISK ASSESSMENT;

CHILD; CHILD, PRESCHOOL; DOWN SYNDROME; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HUMANS; HYPERTENSION, PULMONARY; MALE; NITRIC OXIDE; NITRIC OXIDE SYNTHASE TYPE III; POLYMORPHISM, GENETIC; PREVALENCE;

EID: 33746319883     PISSN: 1747079X     EISSN: 17470803     Source Type: Journal    
DOI: 10.1111/j.1747-0803.2006.00029.x     Document Type: Article

References (38)

1. Hasegawa N, Oshima M, Kawakami H, Hirano H. Changes in pulmonary tissue of patients with congenital heart disease and Down syndrome: A morphological and histochemical study. Acta Paediatr Jpn. 1990;32:60-66.
2. Clapp S, Perry BL, Farooki ZQ, et al. Down's syndrome, complete atrioventricular canal, and pulmonary vascular obstructive disease. J Thorac Cardiovasc Surg. 1990;100:115-121.
3. Lindberg L, Olsson AK, Jogi P, Jonmarker C. How common is severe pulmonary hypertension after pediatric cardiac surgery? J Thorac Cardiovasc Surg. 2002;123:1155-1163.
4. Folger GM Jr. Pulmonary vascular disease in children with congenital cardiovascular malformations. Etiologic considerations. Angiology. 1983;34:784-811.
5. Suzuki K, Yamaki S, Mimori S, et al. Pulmonary vascular disease in Down's syndrome with complete atrioventricular septal defect. Am J Cardiol. 2000;86:434-437.
6. Levine OR, Simpser M. Alveolar hypoventilation and cor pulmonale associated with chronic airway obstruction in infants with Down syndrome. Clin Pediatr (Phila). 1982;21:25-29.
7. Rowland TW, Nordstrom LG, Bean MS, Burkhardt H. Chronic upper airway obstruction and pulmonary hypertension in Down's syndrome. Am J Dis Child. 1981;135:1050-1052.
8. Lefaivre JF, Cohen SR, Burstein FD, et al. Down syndrome: Identification and surgical management of obstructive sleep apnea. Plast Reconstr Surg. 1997;99:629-637.
9. Marcus CL, Keens TG, Bautista DB, von Pechmann WS, Ward SL. Obstructive sleep apnea in children with Down syndrome. Pediatrics. 1991;88:132-139.
10. Cooney TP, Thurlbeck WM. Pulmonary hypoplasia in Down's syndrome. N Engl J Med. 1982;307:1170-1173.
11. Kawai T, Wada Y, Enmoto T, et al. Comparison of hemodynamic data before and after corrective surgery for Down's syndrome and ventricular septal defect. Heart Vessels. 1995;10:154-157.
12. Chi TPLKJ. The pulmonary vascular bed in children with Down syndrome. J Pediatr. 1975;86:533-538.
13. Shah PS, Hellmann J, Adatia I. Clinical characteristics and follow up of Down syndrome infants without congenital heart disease who presented with persistent pulmonary hypertension of newborn. J Perinat Med. 2004;32:168-170.
14. Benjafield AV, Morris BJ. Association analyses of endothelial nitric oxide synthase gene polymorphisms in essential hypertension. Am J Hypertens. 2000;13:994-998.
15. Tsujita Y, Baba S, Yamauchi R, et al. Association analyses between genetic polymorphisms of endothelial nitric oxide synthase gene and hypertension in Japanese: The Suita Study. J Hypertens. 2001;19:1941-1948.
16. Berdeli A, Sekuri C, Sirri Cam F, et al. Association between the eNOS (Glu298Asp) and the RAS genes polymorphisms and premature coronary artery disease in a Turkish population. Clin Chim Acta. 2005;351:87-94.
17. Kunnas TA, Ilveskoski E, Niskakangas T, et al. Association of the endothelial nitric oxide synthase gene polymorphism with risk of coronary artery disease and myocardial infarction in middle-aged men. J Mol Med. 2002;80:605-609.
18. Shimasaki Y, Yasue H, Yoshimura M, et al. Association of the missense Glu298Asp variant of the endothelial nitric oxide synthase gene with myocardial infarction. J Am Coll Cardiol. 1998;31:1506-1510.
19. Hibi K, Ishigami T, Tamura K, et al. Endothelial nitric oxide synthase gene polymorphism and acute myocardial infarction. Hypertension. 1998;32:521-526.
20. Wolff B, Grabe HJ, Schluter C, et al. Endothelial nitric oxide synthase Glu298Asp gene polymorphism, blood pressure and hypertension in a general population sample. J Hypertens. 2005;23:1361-1366.
21. Rao S, Austin H, Davidoff MN, Zafari AM. Endothelial nitric oxide synthase intron 4 polymorphism is a marker for coronary artery disease in African-American and Caucasian men. Ethn Dis. 2005;15:191-197.
22. Cannon BC, Feltes TF, Fraley JK, Grifka RG, Riddle EM, Kovalchin JP. Nitric oxide in the evaluation of congenital heart disease with pulmonary hypertension: Factors related to nitric oxide response. Pediatr Cardiol. 2005;26:565-569.
23. Cappelli-Bigazzi M, Santoro G, Battaglia C, et al. Endothelial cell function in patients with Down's syndrome. Am J Cardiol. 2004;94:392-395.
24. Yildiz P, Oflaz H, Cine N, Erginel-Unaltuna N, Erzengin F, Yilmaz V. Gene polymorphisms of endothelial nitric oxide synthase enzyme associated with pulmonary hypertension in patients with COPD. Respir Med. 2003;97:1282-1288.
25. Droma Y, Hanaoka M, Ota M, et al. Positive association of the endothelial nitric oxide synthase gene polymorphisms with high-altitude pulmonary edema. Circulation. 2002;106:826-830.
26. Fagan KA, Fouty BW, Tyler RC, et al. The pulmonary circulation of homozygous or heterozygous eNOS-null mice is hyperresponsive to mild hypoxia. J Clin Invest. 1999;103:291-299.
27. Ayeni TI, Roper HP. Pulmonary hypertension resulting from upper airways obstruction in Down's syndrome. J R Soc Med. 1998;91:321-322.
28. Jacobs IN, Teague WG, Bland JW Jr. Pulmonary vascular complications of chronic airway obstruction in children. Arch Otolaryngol Head Neck Surg. 1997;123:700-704.
29. Spence MS, McGlinchey PG, Patterson CC, et al. Endothelial nitric oxide synthase gene polymorphism and ischemic heart disease. Am Heart J. 2004;148:847-851.
30. Jachymova M, Horky K, Bultas J, et al. Association of the Glu298Asp polymorphism in the endothelial nitric oxide synthase gene with essential hypertension resistant to conventional therapy. Biochem Biophys Res Commun. 2001;284:426-430.
31. Miyamoto Y, Saito Y, Kajiyama N, et al. Endothelial nitric oxide synthase gene is positively associated with essential hypertension. Hypertension. 1998;32:3-8.
32. Colombo MG, Paradossi U, Andreassi MG, et al. Endothelial nitric oxide synthase gene polymorphisms and risk of coronary artery disease. Clin Chem. 2003;49:389-395.
33. Ahsan A, Ram R, Baig MA, Pasha MA. ACE I allele and eNOS G allele crosstalk may have a role in chronic obstructive pulmonary disease. Clin Biochem. 2004;37:1037-1040.
34. Abraham WT, Raynolds MV, Badesch DB, et al. Angiotensin-converting enzyme DD genotype in patients with primary pulmonary hypertension: increased frequency and association with preserved haemodynamics. J Renin Angiotensin Aldosterone Syst. 2003;4:27-30.
35. Machado RD, Pauciulo MW, Thomson JR, et al. BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. Am J Hum Genet. 2001;68:92-102.
36. Deng Z, Morse JH, Slager SL, et al. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet. 2000;67:737-744.
37. Runo JR, Vnencak-Jones CL, Prince M, et al. Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. Am J Respir Crit Care Med. 2003;167:889-894.
38. Roberts KE, McElroy JJ, Wong WP, et al. BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease. Eur Respir J. 2004;24:371-374.