1. bookVolumen 21 (2013): Edición 3 (September 2013)
Detalles de la revista
License
Formato
Revista
eISSN
2284-5623
ISSN
2284-5623
Primera edición
08 Aug 2013
Calendario de la edición
4 veces al año
Idiomas
Inglés
access type Acceso abierto

The role of eNOS and AGT gene polymorphisms in secondary pulmonary arterial hypertension in Romanian children with congenital heart disease

Publicado en línea: 19 Sep 2013
Volumen & Edición: Volumen 21 (2013) - Edición 3 (September 2013)
Páginas: 267 - 274
Detalles de la revista
License
Formato
Revista
eISSN
2284-5623
ISSN
2284-5623
Primera edición
08 Aug 2013
Calendario de la edición
4 veces al año
Idiomas
Inglés
Abstract

Background: Pulmonary arterial hypertension (PAH) is an incapacitating disease even in childhood, associated with very poor prognosis. The disease is characterised by endothelial dysfunction. Two of the key endothelial mediators involved in the PAH pathogenesis are nitric oxide (NO) and angiotensinogen (AGT). Purpose of the study: to evaluate the following gene polymorphisms: endothelial nitric oxide synthase (eNOS) G894T, eNOS 4b/4a, and angiotensinogen (AGT) M235T, as well as allele frequency and their association with PAH in children. Material and methods This study included 32 children with pulmonary arterial hypertension secondary to congenital heart disease, 46 children with congenital heart disease without pulmonary arterial hypertension referred to the Pediatric Cardiology Clinic Tg.Mures and 40 healthy controls. All patients underwent a complete physical with NYHA class evaluation, echocardiographic exam and eNOS (G894T, 4b/4a) as well as AGT M235T polymorphisms determination. Results The frequency of eNOS 894T allele (p < 0.0001) was significantly higher in patients with pulmonary arterial hypertension. Conclusions Our results advocate that there is a correlation between eNOS 894T allele and pulmonary arterial hypertension in children

Keywords

Cuvinte cheie

1. Alderton WK, Cooper CE, Knowles RG. Nitric oxide synthases: structure, function and inhibition. Biochem J. 2001; 357(3):593-615.10.1042/bj3570593Search in Google Scholar

2. Rosas-Vargas H, Coral-Vazquez RM, Tapia R, Borja JL, Salas RA, Salamanca F. Glu298Asp Endothelial Nitric Oxide Synthase Polymorphism Is a Risk Factor for Erectile Dysfunction in the Mexican Mestizo Population. J Androl. 2004; 25(5):728-732.10.1002/j.1939-4640.2004.tb02847.xSearch in Google Scholar

3. Nakayama T, Soma M, Takahashi Y, Izumi Y, Kanmatsuse K, Esumi M. Association analysis of CA repeat polymorphism of the endothelial nitric oxide synthase gene with essential hypertension in Japanese. Clin Genet. 1997; 51(1):26-30.10.1111/j.1399-0004.1997.tb02409.xSearch in Google Scholar

4. Wang XL, Sim AS, Badenhop RF, McCredie RM, Wilcken DE. A smoking-dependent risk of coronary artery disease associated with a polymorphism of the endothelial nitric oxide synthase gene. Nature Med. 1996; 2(1):41-45.10.1038/nm0196-41Search in Google Scholar

5. Hingorani AD, Liang CF, Fatibene J, Lyon A, Monteith S, Parsons A. A common variant of the endothelial nitric oxide synthase (Glu298Asp) is a major risk factor for coronary disease in the UK. Circulation. 1999; 100 (14):1515-1520.10.1161/01.CIR.100.14.1515Search in Google Scholar

6. Yoshimura M, Yasue H, Nakayama M, Shimasaki Y, Sumida H, Sugiyama S et al. A missense Glu298Asp variant in the endothelial nitric oxide synthase gene is associated with coronary spasm in the Japanese. Hum Genet. 1998; 103(1):65-69.10.1007/s004390050785Search in Google Scholar

7. Jachymova M, Horky K, Bultas J, Kozich V, Jindra A, Peleska 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 Comm. 2001; 284(2):426-430.10.1006/bbrc.2001.5007Search in Google Scholar

8. Shoji M, Tsutaya S, Saito R, Takamatu H, Yasujima M. Positive association of endothelial nitric oxide synthase gene polymorphism with hypertension in northern Japan. Life Sci. 2000; 66(26):2557-2562.10.1016/S0024-3205(00)00589-0Search in Google Scholar

9. Budts W, Pokreisz P, Nong Z, Van Pelt N, Gillijns H, GerardR, et al. Aerosol gene transfer with inducible nitric oxide synthase reduces hypoxic pulmonary hypertension and pulmonary vascular remodeling in rats. Circulation. 2000; 102(23):2880-2885.10.1161/01.CIR.102.23.288011104748Search in Google Scholar

10. Sarkar R, Meinberg EG, Stanley JC, Goron D, Webb RC. Nitric oxide reversibly inhibits the migration of cultured vascular smooth muscle cells. Circ. Res. 1996; 78(2):225-230.Search in Google Scholar

11. Garg UC, Hassid A. Nitric oxide-generating vasodilators and 8-bromo-cyclic guanosine monophosphate inhibit mitogenesis and proliferation of cultured rat vascular smooth muscle cells. J Clin Invest. 1989; 83(5):1774-1777.10.1172/JCI1140813038902540223Search in Google Scholar

12. Say YH, Ling KH, Duraisamy G, Isaac S, Rosli R. Angiotensinogen M235T gene variants and its association with essential hypertension and plasma renin activity in Malaysian subjects: A case control study. BMC Cardiovascular Disorders. 2005; 5:7.10.1186/1471-2261-5-7109056415811183Search in Google Scholar

13. Chiang FT, Hsu KL, Tseng CD, Hsiao WH, Lo HM, Chern TH, et al Molecular variant M235T of the angiotensinogen gene is associated with essential hypertension in Taiwanese. J Hypertens. 1997; 15(6):607-611.10.1097/00004872-199715060-000069218179Search in Google Scholar

14. Kamitani A, Rakugi H, Higaki J, Yi Z, Mikami H, Miki T, et al Association analysis of a polymorphism of the angiotensinogen gene with essential hypertension in Japanese. J Hum Hypertens. 1994; 8:521-524.Search in Google Scholar

15. Morise T, Takeuchi Y, Takeda R. Rapid detection and prevalence of the variants of the angiotensinogen gene in patients with essential hypertension. Journal of Internal Medicine. 1995; 237(2):175-180.10.1111/j.1365-2796.1995.tb01158.x7852920Search in Google Scholar

16. Colomba D, Duro G, Corrao S, Argano C, Di Chiara T, Nuzzo D et al. Endothelial nitric oxide synthase gene polymorphisms and cardiovascular damage in hypertensive subjects: an Italian case-control study. Immun Ageing. 2008; 5:4.10.1186/1742-4933-5-4243054118510731Search in Google Scholar

17. Fatini C, Mannini L, Sticchi E, Cecchi E, Bruschettini A, Leprini E et al. eNOS gene affects red cell deformability: role of T-786C, G894T, and 4a/4b polymorphisms. Clin Appl Thromb Hemost. 2005; 11(4):481-488.10.1177/10760296050110041716244776Search in Google Scholar

18. Russ AP, Maerz W, Ruzicka V, Stein U, Gross W. Rapid detection of the hypertension-associated Met235- Thr allele of the human angiotensinogen gene. Hum Mol Genet. 1993; 2(5):609-610.10.1093/hmg/2.5.6098518804Search in Google Scholar

19. Sun LR, Wang C, Wu AQ, Yan BM, Li DM, Zhang JL, et al. Gene polymorphism of the endothelial nitric oxide synthase enzyme and pulmonary hypertension in patient with chronic obstructive pulmonary disease. Zhonghua Jie He He Hu Xi Za Zhi, 2008; 31(5):335-340.Search in Google Scholar

20. Men C, Tang K, Lin G, Li J, Zhan Y. ENOS-G894T polymorphism is a risk factor for essential hypertension in China. Indian J Biochem Biophys. 2011; 48(3):154-157.Search in Google Scholar

21. Ulrich S, Hersberger M, Fischler M, Nussbaumer- Ochsner Y, Treder U, Russi EW. Genetic polymorphisms of the serotonin transporter, but not the 2a receptor or nitric oxide synthetase, are associated with pulmonary hypertension in chronic obstructive pulmonary disease. Respiration. 2010; 79(4):288-295.10.1159/00022624319556740Search in Google Scholar

22. 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(12):1282-1288.10.1016/j.rmed.2003.06.00114682408Search in Google Scholar

23. Li R, Lyn D, Lapu-Bula R, Oduwole A, Igho-Pemu P, Lankford B. Relation of endothelial nitric oxide synthase gene to plasma nitric oxide level, endothelial function and blood pressure in African Americans. Am J Hypertens. 2004; 17(7):560-567.10.1016/j.amjhyper.2004.02.01315233974Search in Google Scholar

24. Fatini C, Sofi F, Sticchi E, Gensini F, Gori AM, Fedi S, et al. Influence of endothelial nitric oxide synthase gene polymorphisms (G894T, 4a4b, T-786C) and hyperhomocysteinemia on the predisposition to acute coronary syndromes. Am Heart J. 2004; 147(3):516-521.10.1016/j.ahj.2003.10.03214999203Search in Google Scholar

25. Salimi S., Fioozrai M, Nourmohammadi I, Shabani M, Mohebbi A. Endothelial nitric oxide synthase gene intron 4 VNTR polymorphism in patients with coronary artery disease in Iran. Indian J Med Res. 2006; 124:683-688.Search in Google Scholar

26. Safarinejad MR, Shafiei N, Safarinejad S. The role of endothelial nitric oxide synthase (eNOS) T-786C, G894T, and 4a/b gene polymorphisms in the risk of idiopathic male infertility. Mol Reprod Dev. 2010; 77(8):720-727.10.1002/mrd.2121020586099Search in Google Scholar

27. Patkar S, Charita BH, Ramesh C, Padma T. High risk of essential hypertension in males with intron 4 VNTR polymorphism of eNOS gene. Indian Journal of Human Genetics. 2009; 15(2):49-53.10.4103/0971-6866.55215291094820680151Search in Google Scholar

28. Champion HC, Bivalacqua TJ, Greenberg SS, Giles TD, Hyman AL, Kadowitz PJ. Adenoviral gene transfer of endothelial nitric-oxide synthase (eNOS) partially restores normal pulmonary arterial pressure in eNOS-deficient micePNAS. Proc. Natl. Acad. Sci USA, 2002; 99(20): 13248-13253.10.1073/pnas.18222589913061912237402Search in Google Scholar

29. Delcroix M, Dorfmuller P, MacLean MR, Barbera JA, Hoeper MM, Ghofranif H, et al. Pulmonary hypertension: future therapies. European respiratory Monograph. 2003; 27:84-109.Search in Google Scholar

30. Mehta S, Stewart DJ, Langleben D, Levy RD. Shortterm pulmonary vasodilation with l-arginine in pulmonary hypertension. Circulation. 1995; 92(6):1539-1545.10.1161/01.CIR.92.6.1539Search in Google Scholar

31. Solari V, Puri P. Genetic polymorphisms of angiotensin system genes in congenital diaphragmatic hernia associated with persistent pulmonary hypertension. J Pediatr Surg. 2004; 39(3):302-306.10.1016/j.jpedsurg.2003.11.00815017542Search in Google Scholar

32. Gatti RR, Santos PS, Sena AA, Marangoni K, Araújo MA, Goulart LR. The interaction of AGT and NOS3 gene polymorphisms with conventional risk factors increases predisposition to hypertension. J Renin Angiotensin Aldosterone Syst. 2012 Jul 12. (Epub ahead of print)10.1177/147032031245202722791701Search in Google Scholar

33. Meroufel DN, Médiène-Benchekor S, Dumont J, Benhamamouch S, Amouyel P, Brousseau T. A study on the polymorphisms of the renin-angiotensin system pathway genes for their effect on blood pressure levels in males from Algeria. J Renin Angiotensin Aldosterone Syst. 2013 Apr 16. (Epub ahead of print) 10.1177/147032031348589823592589Search in Google Scholar

Artículos recomendados de Trend MD

Planifique su conferencia remota con Sciendo