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Role of endothelial nitric oxide synthase gene in vascular diseases

Yıl 2009, Cilt: 14 Sayı: 2, 46 - 50, 14.01.2013

Öz

Abstract. The endothelial nitric oxide synthase (eNOS or NOS 3) is expressed in the endothelium where it produces Nitric Oxide (NO) from L-arginine. NO a powerful short lived vascular substance, plays a key role to maintain vascular homeostasis. Association of endothelial nitric oxide synthase gene variants and nitric oxide has been found in many vascular diseases chiefly stroke, coronary artery disease and hypertension. The variants have been associated with low plasma nitric oxide concentrations and reduced vascular reactivity, however difficulties in measuring those phenotypes implicates that their functions remain unclear. While a large no of studies report the association of NOS3 gene with vascular diseases, a few are contradictory to such reports. So a need for large scale genetic association studies using tagging polymorphisms to confirm or refute the role of NOS3 gene in vascular diseases is strongly warranted.

Key words: Vascular diseaser, eadotelial nitric oxide

Kaynakça

  • Markus HS, Lythgoe DJ, Ostegaard L, O’ et al. Reduced cerebral blood flow in white matter in Ischaemic Leukoaraiosis demonstrated using quantitative exogenous contrast based perfusion MRI. J Neurol Neurosurg Psychiatry 2000; 69: 48- 53.
  • Bakker SL, deLeeuw FE, de Groot JC, et al. Cerebral Vasomotor reactivity and cerebral white matter lesions in the elderly. Neurology 1999; 52: 578-583.
  • Janssens S P, Shimouchi A, Quertermous T, et al. Cloning and expression of a cDNA encoding human endothelium-derived relaxing factor/nitric oxide synthase. J Biol Chem 1992; 267: 14519- 14522.
  • Marsden P A, Schappert K T, Chen, H S, et al. Molecular cloning and characterization of human endothelial nitric oxide synthase. FEBS Lett 1992; 307: 287-293.
  • Nakayama M, Yasue H, Yoshimura M, et al. T- 786-C mutation in the 59-flanking region of the endothelial nitric oxide synthase gene is associated with coronary spasm. Circulation 1999; 99: 2864- 2870.
  • Casas JP, Hingorani AD, Humphries SE, et al. Do meta-analyses of association studies of endothelial nitric oxide synthase variants and ischemic heart disease provide conclusive answers? Circulation 2004; 110: e305-306.
  • Karantzoulis-Fegaras F, Antoniou H, Lai SL, et al. Characterization of the human endothelialnitric- oxide synthase promoter. J Biol Chem 1999; 274: 3076-3093.
  • Poirier O, Mao C, Mallet C, et al. Polymorphisms of the endothelial nitric oxide synthase gene-No consistent association with myocardial infarction in the ECTIM study. Eur J Clin Invest 1999; 29: 284- 290.
  • Miyahara K, Kawamoto T, Sase K, et al. Cloning and structural characterization of the human endothelial nitric-oxide-synthase gene. Eur J Biochem 1994 ; 223: 719-726.
  • Wang XL. Cigarette smoking, DNA variants in endothelial nitric oxide synthase gene and vascular disease. Contribution Nephrology 2000; 130:53-67.
  • Yoshimura M, Yasue H, Nakayama M, et al. missense Glu298Asp variant in the endothelial nitric oxide synthase gene is associated with coronary spasm in the Japanese. Hum Genet 1998; 103: 65-69.
  • Hingorani AD. Polymorphisms in endothelial nitric oxide synthase and atherogenesis: John French Lecture 2000. Atherosclerosis 2001; 154: 521-527.
  • Persu A, Stoenoiu MS, Messiaen T, et al. Modifier effect of ENOS in autosomal dominant polycystic kidney disease. Hum Mol Genet 2002; 11: 229-241.
  • McDonald DM, Alp NJ, Channon KM. Functional comparison of the endothelial nitric oxide synthase Glu298Asp polymorphic variants in human endothelial cells. Pharmacogenetics 2004; 14: 831- 839.
  • Casas JP, Bautista LE, Humphries S, et al. Endothelial nitric oxide synthase genotype and ischaemic heart disease: meta-analysis of 30 studies, involving F23,028 subjects. Circulation 2004; 109: 1359-1365
  • Wang, X. L., Sim, A. S., Badenhop, R. F. et al. A smoking-dependent risk of coronary artery disease associated with a polymorphism of the endothelial nitric oxide synthase gene. Nature Med 1996; 2: 41-45.
  • Howard, TD, Gills, WH, Xu, J, et al. Promorer polymorphisms in the nitric Oxide Synthase 3 Gene Are Associated With Ischemic Stroke Susceptibility in Young Black Women. Stroke 2005 ; 36: 1848-1851.
  • A.Hassan, K. Gormley, O’ Sullivan, J. et al. Markus, Endothelial Nitric Oxide Gene Haplotype and Risk of Cerebral Small Vessel Disease. Stroke 2004; 35: 654-659.
  • Akar N, Akar E, Cin S, et al. Endothelial nitric oxide synthase intron 4, 27 bp repeat polymorphism in Turkish patients with deep vein thrombosis and cerebrovascular accidents. Thromb Res 1999; 94: 63-64.
  • Grewal RP, Dutra AVC, Liao YC, et al. The intron 4c allele of the NOS3 gene is associated with ischemic stroke in African Americans BMC Medical Genetics 2007; 8: 76.
  • Hoffmann MM, Winkelmann BR, Schneider S, et al. Endothelial nitric oxide synthase gene Glu298 >Asp variant—Association with arterial hypertension, but not with coronary artery disease. Atherosclerosis 2000; 151: 254.
  • Markus HS, Ruigrok Y, Ali N, et al. Endothelial nitric oxide synthase exon 7 polymorphism, ischemic cerebrovascular disease, and carotid atheroma. Stroke1998: 29:1908-1911.
  • Yemişçi M, Sinici I, Ozkara HA, et al. Protective role of 27bp repeat polymorphism in intron 4 of eNOS gene in Lacunar Infraction. Free Radic Res 2009; 43(3): 272-279.
  • Y.Yoon, J Song, S. Ho Hong, et al. Plasma nitric Oxide concentrations and nitric oxide synthase gene polymorphisms in coronary artery disease. Clinical Chemistry 2000; 46(10): 1626-1630.
  • Hingorani AD, Liang CF, Fatibebe J, et.al. A common Variant of the endothelial nitric oxide synthase (Glu-Asp) is a major risk factor for coronary artery disease in the UK Circulation 1999; 100: 1515-1520.
  • Colombo MG, Andreassi UPMG, Botto N, et al. Endothelial Nitric Oxide Synthase Gene polymorphisms and risk of Coronary Artery Disease. Clinical chemistry 2003; 49(3): 389-395.
  • Mathew J, Narayanan P, Sundaram R, et al. Chandrasekaran A ack of association between Glu (298) Asp polymorphism and of endothelial nitric oxide gene and coronary artery disease In Tamalian Population. Indian Heart J 2008; 60(3): 223-227.
  • Kaur S, Kumar TR, Uruno A, et al. Genetic engineering with endothelial nitric oxide synthase improves functional properties of endothelial progenitor cells from patients with coronary artery disease. Basic Res Crdiol 2009 May 29. Sayfa no 2009; 104: 739-749.
  • Uwabo J, Soma M, Nakayama T, Kanmatsuse K. Association of a variable number of tandem repeats in the endothelial constitutive nitric oxide synthase gene with essential hypertension in Japanese. Am J Hypertens 1998; 11: 125-128,
  • Miyamoto Y, Saito Y, Kajiyama N, et al. Endothelial nitric oxide synthase gene is positively associated with essential hypertension. Hypertension1998; 32: 3-8.
  • Benjafield AV, Morris BJ. Association analyses of endothelial nitric oxide synthase gene polymorphisms in essential hypertension. Am J Hypertens 2000; 13(9): 994-998.
  • Pulkkinen A, Viitanen L, Kareinen A, et al. Intron 4 polymorphism of the endothelial nitric oxide synthase gene is associated with elevated blood pressure in type 2 diabetic patients with coronary artery disease. J Mol Med. 2000; 78(7): 372-379.
  • Nakayama T, Soma M, Takahashi Y, et al. Association analysis of CA repeat polymorphism of the endothelial nitric oxide synthase gene with essential hypertension in Japanese. Clin Genet1 997; 51: 26-30.
Yıl 2009, Cilt: 14 Sayı: 2, 46 - 50, 14.01.2013

Öz

Kaynakça

  • Markus HS, Lythgoe DJ, Ostegaard L, O’ et al. Reduced cerebral blood flow in white matter in Ischaemic Leukoaraiosis demonstrated using quantitative exogenous contrast based perfusion MRI. J Neurol Neurosurg Psychiatry 2000; 69: 48- 53.
  • Bakker SL, deLeeuw FE, de Groot JC, et al. Cerebral Vasomotor reactivity and cerebral white matter lesions in the elderly. Neurology 1999; 52: 578-583.
  • Janssens S P, Shimouchi A, Quertermous T, et al. Cloning and expression of a cDNA encoding human endothelium-derived relaxing factor/nitric oxide synthase. J Biol Chem 1992; 267: 14519- 14522.
  • Marsden P A, Schappert K T, Chen, H S, et al. Molecular cloning and characterization of human endothelial nitric oxide synthase. FEBS Lett 1992; 307: 287-293.
  • Nakayama M, Yasue H, Yoshimura M, et al. T- 786-C mutation in the 59-flanking region of the endothelial nitric oxide synthase gene is associated with coronary spasm. Circulation 1999; 99: 2864- 2870.
  • Casas JP, Hingorani AD, Humphries SE, et al. Do meta-analyses of association studies of endothelial nitric oxide synthase variants and ischemic heart disease provide conclusive answers? Circulation 2004; 110: e305-306.
  • Karantzoulis-Fegaras F, Antoniou H, Lai SL, et al. Characterization of the human endothelialnitric- oxide synthase promoter. J Biol Chem 1999; 274: 3076-3093.
  • Poirier O, Mao C, Mallet C, et al. Polymorphisms of the endothelial nitric oxide synthase gene-No consistent association with myocardial infarction in the ECTIM study. Eur J Clin Invest 1999; 29: 284- 290.
  • Miyahara K, Kawamoto T, Sase K, et al. Cloning and structural characterization of the human endothelial nitric-oxide-synthase gene. Eur J Biochem 1994 ; 223: 719-726.
  • Wang XL. Cigarette smoking, DNA variants in endothelial nitric oxide synthase gene and vascular disease. Contribution Nephrology 2000; 130:53-67.
  • Yoshimura M, Yasue H, Nakayama M, et al. missense Glu298Asp variant in the endothelial nitric oxide synthase gene is associated with coronary spasm in the Japanese. Hum Genet 1998; 103: 65-69.
  • Hingorani AD. Polymorphisms in endothelial nitric oxide synthase and atherogenesis: John French Lecture 2000. Atherosclerosis 2001; 154: 521-527.
  • Persu A, Stoenoiu MS, Messiaen T, et al. Modifier effect of ENOS in autosomal dominant polycystic kidney disease. Hum Mol Genet 2002; 11: 229-241.
  • McDonald DM, Alp NJ, Channon KM. Functional comparison of the endothelial nitric oxide synthase Glu298Asp polymorphic variants in human endothelial cells. Pharmacogenetics 2004; 14: 831- 839.
  • Casas JP, Bautista LE, Humphries S, et al. Endothelial nitric oxide synthase genotype and ischaemic heart disease: meta-analysis of 30 studies, involving F23,028 subjects. Circulation 2004; 109: 1359-1365
  • Wang, X. L., Sim, A. S., Badenhop, R. F. et al. A smoking-dependent risk of coronary artery disease associated with a polymorphism of the endothelial nitric oxide synthase gene. Nature Med 1996; 2: 41-45.
  • Howard, TD, Gills, WH, Xu, J, et al. Promorer polymorphisms in the nitric Oxide Synthase 3 Gene Are Associated With Ischemic Stroke Susceptibility in Young Black Women. Stroke 2005 ; 36: 1848-1851.
  • A.Hassan, K. Gormley, O’ Sullivan, J. et al. Markus, Endothelial Nitric Oxide Gene Haplotype and Risk of Cerebral Small Vessel Disease. Stroke 2004; 35: 654-659.
  • Akar N, Akar E, Cin S, et al. Endothelial nitric oxide synthase intron 4, 27 bp repeat polymorphism in Turkish patients with deep vein thrombosis and cerebrovascular accidents. Thromb Res 1999; 94: 63-64.
  • Grewal RP, Dutra AVC, Liao YC, et al. The intron 4c allele of the NOS3 gene is associated with ischemic stroke in African Americans BMC Medical Genetics 2007; 8: 76.
  • Hoffmann MM, Winkelmann BR, Schneider S, et al. Endothelial nitric oxide synthase gene Glu298 >Asp variant—Association with arterial hypertension, but not with coronary artery disease. Atherosclerosis 2000; 151: 254.
  • Markus HS, Ruigrok Y, Ali N, et al. Endothelial nitric oxide synthase exon 7 polymorphism, ischemic cerebrovascular disease, and carotid atheroma. Stroke1998: 29:1908-1911.
  • Yemişçi M, Sinici I, Ozkara HA, et al. Protective role of 27bp repeat polymorphism in intron 4 of eNOS gene in Lacunar Infraction. Free Radic Res 2009; 43(3): 272-279.
  • Y.Yoon, J Song, S. Ho Hong, et al. Plasma nitric Oxide concentrations and nitric oxide synthase gene polymorphisms in coronary artery disease. Clinical Chemistry 2000; 46(10): 1626-1630.
  • Hingorani AD, Liang CF, Fatibebe J, et.al. A common Variant of the endothelial nitric oxide synthase (Glu-Asp) is a major risk factor for coronary artery disease in the UK Circulation 1999; 100: 1515-1520.
  • Colombo MG, Andreassi UPMG, Botto N, et al. Endothelial Nitric Oxide Synthase Gene polymorphisms and risk of Coronary Artery Disease. Clinical chemistry 2003; 49(3): 389-395.
  • Mathew J, Narayanan P, Sundaram R, et al. Chandrasekaran A ack of association between Glu (298) Asp polymorphism and of endothelial nitric oxide gene and coronary artery disease In Tamalian Population. Indian Heart J 2008; 60(3): 223-227.
  • Kaur S, Kumar TR, Uruno A, et al. Genetic engineering with endothelial nitric oxide synthase improves functional properties of endothelial progenitor cells from patients with coronary artery disease. Basic Res Crdiol 2009 May 29. Sayfa no 2009; 104: 739-749.
  • Uwabo J, Soma M, Nakayama T, Kanmatsuse K. Association of a variable number of tandem repeats in the endothelial constitutive nitric oxide synthase gene with essential hypertension in Japanese. Am J Hypertens 1998; 11: 125-128,
  • Miyamoto Y, Saito Y, Kajiyama N, et al. Endothelial nitric oxide synthase gene is positively associated with essential hypertension. Hypertension1998; 32: 3-8.
  • Benjafield AV, Morris BJ. Association analyses of endothelial nitric oxide synthase gene polymorphisms in essential hypertension. Am J Hypertens 2000; 13(9): 994-998.
  • Pulkkinen A, Viitanen L, Kareinen A, et al. Intron 4 polymorphism of the endothelial nitric oxide synthase gene is associated with elevated blood pressure in type 2 diabetic patients with coronary artery disease. J Mol Med. 2000; 78(7): 372-379.
  • Nakayama T, Soma M, Takahashi Y, et al. Association analysis of CA repeat polymorphism of the endothelial nitric oxide synthase gene with essential hypertension in Japanese. Clin Genet1 997; 51: 26-30.
Toplam 33 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Letter to the Editor
Yazarlar

M.s. Akhter Bu kişi benim

Arijit Biswas Bu kişi benim

Renu Saxena Bu kişi benim

Yayımlanma Tarihi 14 Ocak 2013
Yayımlandığı Sayı Yıl 2009 Cilt: 14 Sayı: 2

Kaynak Göster

APA Akhter, M., Biswas, A., & Saxena, R. (2013). Role of endothelial nitric oxide synthase gene in vascular diseases. EASTERN JOURNAL OF MEDICINE, 14(2), 46-50.
AMA Akhter M, Biswas A, Saxena R. Role of endothelial nitric oxide synthase gene in vascular diseases. EASTERN JOURNAL OF MEDICINE. Mart 2013;14(2):46-50.
Chicago Akhter, M.s., Arijit Biswas, ve Renu Saxena. “Role of Endothelial Nitric Oxide Synthase Gene in Vascular Diseases”. EASTERN JOURNAL OF MEDICINE 14, sy. 2 (Mart 2013): 46-50.
EndNote Akhter M, Biswas A, Saxena R (01 Mart 2013) Role of endothelial nitric oxide synthase gene in vascular diseases. EASTERN JOURNAL OF MEDICINE 14 2 46–50.
IEEE M. Akhter, A. Biswas, ve R. Saxena, “Role of endothelial nitric oxide synthase gene in vascular diseases”, EASTERN JOURNAL OF MEDICINE, c. 14, sy. 2, ss. 46–50, 2013.
ISNAD Akhter, M.s. vd. “Role of Endothelial Nitric Oxide Synthase Gene in Vascular Diseases”. EASTERN JOURNAL OF MEDICINE 14/2 (Mart 2013), 46-50.
JAMA Akhter M, Biswas A, Saxena R. Role of endothelial nitric oxide synthase gene in vascular diseases. EASTERN JOURNAL OF MEDICINE. 2013;14:46–50.
MLA Akhter, M.s. vd. “Role of Endothelial Nitric Oxide Synthase Gene in Vascular Diseases”. EASTERN JOURNAL OF MEDICINE, c. 14, sy. 2, 2013, ss. 46-50.
Vancouver Akhter M, Biswas A, Saxena R. Role of endothelial nitric oxide synthase gene in vascular diseases. EASTERN JOURNAL OF MEDICINE. 2013;14(2):46-50.