Polimorfismos del óxido nítrico sintasa endotelial, de relevancia clínica en enfermedades cardiovasculares: Efecto de la etnicidad sobre la distribución en la población colombiana

A pesar de los grandes avances en el tratamiento, y en los programas de promoción y prevención, las enfermedades cardiovasculares (ECV), continúan siendo la principal causa de morbimortalidad en los países desarrollados, por lo tanto, se requieren de nuevas estrategias tendientes a modificar el inic...

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Autores:: Serrano Díaz, Norma Cecilia

Tipo de recurso:: Investigation report

Fecha de publicación:: 2005

Institución:: Universidad Autónoma de Bucaramanga - UNAB

Repositorio:: Repositorio UNAB

Idioma:: spa

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dc.title.spa.fl_str_mv	Polimorfismos del óxido nítrico sintasa endotelial, de relevancia clínica en enfermedades cardiovasculares: Efecto de la etnicidad sobre la distribución en la población colombiana
dc.title.translated.spa.fl_str_mv	Endothelial Nitric Oxide Synthase Polymorphisms, of clinical relevance in Cardiovascular Diseases: Effect of ethnicity on distribution in the Colombian population
title	Polimorfismos del óxido nítrico sintasa endotelial, de relevancia clínica en enfermedades cardiovasculares: Efecto de la etnicidad sobre la distribución en la población colombiana
spellingShingle	Polimorfismos del óxido nítrico sintasa endotelial, de relevancia clínica en enfermedades cardiovasculares: Efecto de la etnicidad sobre la distribución en la población colombiana Cardiovascular diseases Nitric oxide Ethnic diversity Endothelial dysfunction Endothelial nitric oxide synthase Polymorphisms Biological development Nitrous compounds Genetic variation Polimorfismos Desarrollo biológico Compuestos nitrosos Variación genética Enfermedades cardiovasculares Óxido nítrico Diversidad étnica Disfunción endotelial Óxido nítrico sintasa endotelial
title_short	Polimorfismos del óxido nítrico sintasa endotelial, de relevancia clínica en enfermedades cardiovasculares: Efecto de la etnicidad sobre la distribución en la población colombiana
title_full	Polimorfismos del óxido nítrico sintasa endotelial, de relevancia clínica en enfermedades cardiovasculares: Efecto de la etnicidad sobre la distribución en la población colombiana
title_fullStr	Polimorfismos del óxido nítrico sintasa endotelial, de relevancia clínica en enfermedades cardiovasculares: Efecto de la etnicidad sobre la distribución en la población colombiana
title_full_unstemmed	Polimorfismos del óxido nítrico sintasa endotelial, de relevancia clínica en enfermedades cardiovasculares: Efecto de la etnicidad sobre la distribución en la población colombiana
title_sort	Polimorfismos del óxido nítrico sintasa endotelial, de relevancia clínica en enfermedades cardiovasculares: Efecto de la etnicidad sobre la distribución en la población colombiana
dc.creator.fl_str_mv	Serrano Díaz, Norma Cecilia
dc.contributor.author.none.fl_str_mv	Serrano Díaz, Norma Cecilia
dc.contributor.cvlac.spa.fl_str_mv	Serrano Díaz, Norma Cecilia [0000066613]
dc.contributor.googlescholar.spa.fl_str_mv	Serrano Díaz, Norma Cecilia [iDn0AAAAAJ&hl=es&oi=ao]
dc.contributor.orcid.spa.fl_str_mv	Serrano Díaz, Norma Cecilia [0000-0003-3532-2002]
dc.contributor.scopus.spa.fl_str_mv	Serrano Díaz, Norma Cecilia [7003706613]
dc.contributor.researchgroup.spa.fl_str_mv	Grupo de Estudio Genético de Enfermedades Complejas Grupo de Investigaciones Clínicas
dc.subject.keywords.spa.fl_str_mv	Cardiovascular diseases Nitric oxide Ethnic diversity Endothelial dysfunction Endothelial nitric oxide synthase Polymorphisms Biological development Nitrous compounds Genetic variation
topic	Cardiovascular diseases Nitric oxide Ethnic diversity Endothelial dysfunction Endothelial nitric oxide synthase Polymorphisms Biological development Nitrous compounds Genetic variation Polimorfismos Desarrollo biológico Compuestos nitrosos Variación genética Enfermedades cardiovasculares Óxido nítrico Diversidad étnica Disfunción endotelial Óxido nítrico sintasa endotelial
dc.subject.lemb.spa.fl_str_mv	Polimorfismos Desarrollo biológico Compuestos nitrosos Variación genética
dc.subject.proposal.spa.fl_str_mv	Enfermedades cardiovasculares Óxido nítrico Diversidad étnica Disfunción endotelial Óxido nítrico sintasa endotelial
description	A pesar de los grandes avances en el tratamiento, y en los programas de promoción y prevención, las enfermedades cardiovasculares (ECV), continúan siendo la principal causa de morbimortalidad en los países desarrollados, por lo tanto, se requieren de nuevas estrategias tendientes a modificar el inicio y progreso de estas enfermedades. El Óxido Nítrico (NO), juega un papel primordial en la regulación de homeostasis vascular, además de ser un potente vasodilatador, tiene propiedades antimitogénicas, inhibiendo la agregación plaquetaria y la adhesión de leucocitos al endotelio vascular. La mayor fuente de NO es el endotelio vascular, y como consecuencia muchas de las ECV pueden estar relacionadas con alteraciones en la actividad de la Óxido Nítrico Sintasa Endotelial (NOSe), enzima encargada de producir NO en las células endoteliales. El papel protagónico que juega el NO en la regulación del sistema cardiovascular ha motivado recientemente a un número de investigadores a estudiar sí las variantes polimórficas de la NOSe se asocian a ECV, varias publicaciones han mostrado resultados inconsistentes cuando se replican en poblaciones diferentes. La causa de estas contradicciones puede deberse a la diversidad étnica, y/o al diseño de experimental, de casos y controles, especialmente cuando estos no son apareados por variaciones en las frecuencias de alelos, lo cual puede llevar a diluir el poder del estudio y a conclusiones erróneas. El presente estudio pretende analizar en población colombiana, los efectos de la etnicidad en la distribución de tres polimorfismos de la NOSe de relevancia clínica en ECV, con el fin de mejorar el diseño de futuros estudios de asociación entre polimorfismos de la NOSe y disfunción endotelial.
publishDate	2005
dc.date.issued.none.fl_str_mv	2005
dc.date.accessioned.none.fl_str_mv	2023-11-23T13:26:20Z
dc.date.available.none.fl_str_mv	2023-11-23T13:26:20Z
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dc.relation.references.spa.fl_str_mv	Fuster V. Epidemic of cardiovascular disease and stroke: the three main challenges. Circulation 1999; 99:132-37. Tavazzi L. Clinical epidemiology of acute myocardial infarction. Am Heart J 1999;138: 548-54. Murray CJ, López A. Mortality by cause for eight regions of the world : global burden of disease study. Lancet 1997;349:1269-76, Murray Cj, López A. Alternative projections of mortality and disability by cause 1990- 2020: global burden of disease study. Lancet 1997;349:1498-1504. Hennekens CH. Increasing burden of cardiovascular disease. Current knowledge and future directions for research on risk factor. Circulation 1998;97:1095-1102. Reddy K, Yusuf S. Emerging epidemic of cardiovascular disease in developing countries. Circulation 1998;97:596-601. Kaplan G, Keil J. Socioeconomic factor and cardiovascular disease: a review of literature. Circulation 1993;88:1973-97. López-Jaramillo P, Casas JP, Bautista L, Serrano NC, Morillo CA. An integral proposal to explain the epidemic of cardiovascular disease in a developing county. From socioeconomic factor to free radicals. Cardiology 2001;96:1-6. World Health Organization. World Health Report. Geneva, Switzerland; WHO:1999, Palmer RMJ. Vascular endothelial cell synthesize nitric oxide from L-arginine. Nature; 1988 333:664-66. Mombuli JV. Endothelial dysfunction: from physiology to therapy. y Mol Cell Cardiol 1998;31:61-74. Cooke JP, Dzau VJ. Nitric oxide synthase: role in the genesis of vascular disease. Annu Rev Med 1997;489-509. Cardon LR, Bell JL. Association study designs for complex diseases. Nat Rev Genet 2001;2:91-9. Risch NJ, Searching for genetic determinants in the new millennium. Nature 2000;405:847-56. Casas JP, Bautista LE; Humphries SE, Hingorani AD. Endothelial nitric oxide synthase genotype and ischemic heart disease. Meta-Analysis of 26 studies involving 23028 subjects. Circulation 2004;109:1359-65. Tanus-Santos JE, Desai M, Flockhart DA. Effects of ethnicity on the distribution of clinically prevalent endothelial nitric oxide variants. Pharmacogenetics 2001;11:719-25 Li R, Lyn D, Lapu-Bula R, Oduwolw A, Igho-Pemu P, Lankford B, Nkemdechi S, Pack E. Relation of endothelial nitric oxide synthase gene to plasma nitric oxide level, endothelial function, and blood pressure in African Americans. Am. J. Hypertens 2004;17:560-67. Sareli P, Radevski IV, Valtchanova ZP, Libhaber E, Candy GP, De Hond E, Libhaber C, Skudicky D, Wang JG, Staessen JA. Efficacy of different drug classes used to initiate antihypertensive treatment in black subjects: results of a randomized trial in Johannesburg. South Africa. Arch Intern Med 2001;161:965-71. Dean J, Dean DA, Coloumbier D, Brebdel KA, Smith DC, Burton AH, et al. Epi Info 3.2- 2004. A word processing, database, and statistic software for public health professionals. Center for Disease Control and Prevention (Atlanta, USA), and World Health Organization (Geneva, Switzerland), 2004, Schneider S, Roessli D, Excoffier L. Arlequin ver 2000. A software for population genetics analysis. Genetics and Biometry Laboratory, Department of Anthropology and Ecology, University of Geneva, Swizerland, 2000. Disponible en http://anthro.unige.ch/arlequin. Morroni AL, Metzger IF, Souza-Costa DC, Nagassaki S, Sandrin VC, Correa RX, RiosSantos F, Tanus-Santos JE. Consistent interethnic differences in the distribution of clinically relevant endothelial nitric oxide synthase genetic polymorphisms. Nitric Oxide 2005;12:177-82. Stein CM, Lang CC, Xie HG, Wood AJ. Hypertension in black people: study of specific genotypes and phenotypes will provide a greater understanding of interindividual and interethnic variability in blood pressure regulation than studies based on race. Pharmacogenesis 2001;11:95-110. Nakayama M, Yasue H, Yoshimura Y, Shimasaki K, Kugiyama H, Ogawa T, Motoyama T, Saito Y, Ogawa Y, Miyamoto Y. T-786C mutation in the 5”“-flanking region of the endothelial nitric oxide synthase gene is associated with coronary spasm. Circulation 1999;99:2864-70. Hingorani AD, Liang CF, Fatibene J, Lyon A, Monteith S, Personds A. A common variant of the endothelial nitric oxide synthase (Glu298Asp) is a major risk factor coronary artery disease in the UK. Circulation 1999;100:1515-20. Lacolly P, Gauler S, Poirier O, Pannier B, Cambien F, Benetos F. Nitric Oxide synthase gene polymorphism, blood pressure and aortic stiffness in normothensive and hypertensive subjects. J Hypertension 1998;16:31-6. Lembo G, Luca N, Battagli C, Lovino G, Aretini A, Musicco M. A common variant of endothelial nitric oxide synthase (Glu298Asp) is an independent risk factor for carotid atherosclesrosis. Stroke 2001:32:735-40. Serrano N, Casas JP, Díaz LA, Páez MC, Mesa CM, Cifuentes Monterrosa A, Bautista A, Hawe E, Hingorani A, Vallance P, López-Jaramillo P. Endothelial Nitric Oxide Synthase Genotype and Risk of Preeclampsia: a multi-centre case-control study. Hypertension 2004;44:702-7. Teasuro M, Thompson WC, Rogliani P et al. Intracellular processing of endothelial nitric oxide synthase isoforms associated with differences in severity of cardiopulmonary diseases: cleavage of proteins with aspartate vs. glutamate at position 298. Proc Natl Acad Sci USA 2000 97;,2832-35. Savvidou MD, Vallance PJ, Nicolaides KH, Hingorani AD. Endothelial nitric oxide synthase gene polymorphism and maternal vascular adaptation to pregnancy. Hypertension 2001;38(6):1289-93. Hooper WC, Lally C, Austin H, Benson J, Dilley A, Wenger NK, Whitsett C, Rawlins P, Evatt BL. The relationship between polymorphism in the endothelial cell nitric oxide synthase gene and the platelet GPllla gene with myocardial infarction and venous thromboembolism on African Americans: Chest 1990;116:880-86. Freedman Bl, Yu H, Anderson PJ, Roh BH, Rich SS, Bowden DW. Genetic analysis of nitric oxide and endothelial in end-stage renal disease. Nephrol Dial Transplant. 2000:15;1794-80. Tsukada T, Yokoyama K, Arai T. Evidence of association of the eNOS polymorphism with plasma NO metabolite nivels in humans. Biochem Biophys Res Commun 1998;245:190-93. Wang XL, Sim AS, Wang MX, Murrel GA, Trudinger B, Wang J. Genotype dependent and cigarette specific effects on endothelial nitric oxide synthase gene expression an enzyme activity. FEBS Lett 2000;471:45-50. Yoon Y, Song J, Hong SH. Plasma nitric oxide concentrations and nitric oxide synthase gene polymorphisms in coronary artery disease. Clin Chem 2000;46:1626- 30. Jerooburkhan N, Jones IC, Bujac S. Genetic and environmental determinants of plasma nitrogen oxides and risk of ischemic heart disease. Hypertension 2001;38:1054-61. Kalinowski L, Dobrucki IT, Malinski T. Race-specific differences in endothelial function: predisposition of African Americans to vascular diseases. Circulation 2004;109:2511- 17.
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spelling	Serrano Díaz, Norma Cecilia6d35f45d-5845-4d5a-a85d-46c2dd24bbc3Serrano Díaz, Norma Cecilia [0000066613]Serrano Díaz, Norma Cecilia [iDn0AAAAAJ&hl=es&oi=ao]Serrano Díaz, Norma Cecilia [0000-0003-3532-2002]Serrano Díaz, Norma Cecilia [7003706613]Grupo de Estudio Genético de Enfermedades ComplejasGrupo de Investigaciones ClínicasBucaramanga (Santander, Colombia)2005UNAB Campus Bucaramanga2023-11-23T13:26:20Z2023-11-23T13:26:20Z2005http://hdl.handle.net/20.500.12749/22882instname:Universidad Autónoma de Bucaramanga - UNABreponame:Repositorio Institucional UNABrepourl:https://repository.unab.edu.coA pesar de los grandes avances en el tratamiento, y en los programas de promoción y prevención, las enfermedades cardiovasculares (ECV), continúan siendo la principal causa de morbimortalidad en los países desarrollados, por lo tanto, se requieren de nuevas estrategias tendientes a modificar el inicio y progreso de estas enfermedades. El Óxido Nítrico (NO), juega un papel primordial en la regulación de homeostasis vascular, además de ser un potente vasodilatador, tiene propiedades antimitogénicas, inhibiendo la agregación plaquetaria y la adhesión de leucocitos al endotelio vascular. La mayor fuente de NO es el endotelio vascular, y como consecuencia muchas de las ECV pueden estar relacionadas con alteraciones en la actividad de la Óxido Nítrico Sintasa Endotelial (NOSe), enzima encargada de producir NO en las células endoteliales. El papel protagónico que juega el NO en la regulación del sistema cardiovascular ha motivado recientemente a un número de investigadores a estudiar sí las variantes polimórficas de la NOSe se asocian a ECV, varias publicaciones han mostrado resultados inconsistentes cuando se replican en poblaciones diferentes. La causa de estas contradicciones puede deberse a la diversidad étnica, y/o al diseño de experimental, de casos y controles, especialmente cuando estos no son apareados por variaciones en las frecuencias de alelos, lo cual puede llevar a diluir el poder del estudio y a conclusiones erróneas. El presente estudio pretende analizar en población colombiana, los efectos de la etnicidad en la distribución de tres polimorfismos de la NOSe de relevancia clínica en ECV, con el fin de mejorar el diseño de futuros estudios de asociación entre polimorfismos de la NOSe y disfunción endotelial.Despite the great advances in treatment, and in promotion and prevention programs, cardiovascular diseases (CVD) continue to be the main cause of morbidity and mortality in developed countries, therefore, new strategies are required to modify the onset and progression of these diseases. Nitric Oxide (NO) plays a primary role in the regulation of vascular homeostasis. In addition to being a powerful vasodilator, it has antimitogenic properties, inhibiting platelet aggregation and the adhesion of leukocytes to the vascular endothelium. The largest source of NO is the vascular endothelium, and as a consequence many CVDs may be related to alterations in the activity of Endothelial Nitric Oxide Synthase (eNOS), the enzyme responsible for producing NO in endothelial cells. The leading role that NO plays in the regulation of the cardiovascular system has recently motivated a number of researchers to study whether polymorphic variants of NOSe are associated with CVD; several publications have shown inconsistent results when replicated in different populations. The cause of these contradictions may be due to ethnic diversity, and/or the experimental, case-control design, especially when these are not matched due to variations in allele frequencies, which can lead to diluting the power of the study and wrong conclusions. The present study aims to analyze in the Colombian population the effects of ethnicity on the distribution of three eNOS polymorphisms of clinical relevance in CVD, in order to improve the design of future association studies between eNOS polymorphisms and endothelial dysfunction.Modalidad Presencialapplication/pdfspahttp://creativecommons.org/licenses/by-nc-nd/2.5/co/Abierto (Texto Completo)Atribución-NoComercial-SinDerivadas 2.5 Colombiahttp://purl.org/coar/access_right/c_abf2Polimorfismos del óxido nítrico sintasa endotelial, de relevancia clínica en enfermedades cardiovasculares: Efecto de la etnicidad sobre la distribución en la población colombianaEndothelial Nitric Oxide Synthase Polymorphisms, of clinical relevance in Cardiovascular Diseases: Effect of ethnicity on distribution in the Colombian populationResearch reportinfo:eu-repo/semantics/workingPaperInforme de investigaciónhttp://purl.org/coar/resource_type/c_18wshttp://purl.org/coar/resource_type/c_8042info:eu-repo/semantics/acceptedVersionhttp://purl.org/redcol/resource_type/IFIUniversidad Autónoma de Bucaramanga UNABFacultad Ciencias de la SaludCardiovascular diseasesNitric oxideEthnic diversityEndothelial dysfunctionEndothelial nitric oxide synthasePolymorphismsBiological developmentNitrous compoundsGenetic variationPolimorfismosDesarrollo biológicoCompuestos nitrososVariación genéticaEnfermedades cardiovascularesÓxido nítricoDiversidad étnicaDisfunción endotelialÓxido nítrico sintasa endotelialFuster V. Epidemic of cardiovascular disease and stroke: the three main challenges. Circulation 1999; 99:132-37.Tavazzi L. Clinical epidemiology of acute myocardial infarction. Am Heart J 1999;138: 548-54.Murray CJ, López A. Mortality by cause for eight regions of the world : global burden of disease study. Lancet 1997;349:1269-76,Murray Cj, López A. Alternative projections of mortality and disability by cause 1990- 2020: global burden of disease study. Lancet 1997;349:1498-1504.Hennekens CH. Increasing burden of cardiovascular disease. Current knowledge and future directions for research on risk factor. Circulation 1998;97:1095-1102.Reddy K, Yusuf S. Emerging epidemic of cardiovascular disease in developing countries. Circulation 1998;97:596-601.Kaplan G, Keil J. Socioeconomic factor and cardiovascular disease: a review of literature. Circulation 1993;88:1973-97.López-Jaramillo P, Casas JP, Bautista L, Serrano NC, Morillo CA. An integral proposal to explain the epidemic of cardiovascular disease in a developing county. From socioeconomic factor to free radicals. Cardiology 2001;96:1-6.World Health Organization. World Health Report. Geneva, Switzerland; WHO:1999,Palmer RMJ. Vascular endothelial cell synthesize nitric oxide from L-arginine. Nature; 1988 333:664-66.Mombuli JV. Endothelial dysfunction: from physiology to therapy. y Mol Cell Cardiol 1998;31:61-74.Cooke JP, Dzau VJ. Nitric oxide synthase: role in the genesis of vascular disease. Annu Rev Med 1997;489-509.Cardon LR, Bell JL. Association study designs for complex diseases. Nat Rev Genet 2001;2:91-9.Risch NJ, Searching for genetic determinants in the new millennium. Nature 2000;405:847-56.Casas JP, Bautista LE; Humphries SE, Hingorani AD. Endothelial nitric oxide synthase genotype and ischemic heart disease. Meta-Analysis of 26 studies involving 23028 subjects. Circulation 2004;109:1359-65.Tanus-Santos JE, Desai M, Flockhart DA. Effects of ethnicity on the distribution of clinically prevalent endothelial nitric oxide variants. Pharmacogenetics 2001;11:719-25Li R, Lyn D, Lapu-Bula R, Oduwolw A, Igho-Pemu P, Lankford B, Nkemdechi S, Pack E. Relation of endothelial nitric oxide synthase gene to plasma nitric oxide level, endothelial function, and blood pressure in African Americans. Am. J. Hypertens 2004;17:560-67.Sareli P, Radevski IV, Valtchanova ZP, Libhaber E, Candy GP, De Hond E, Libhaber C, Skudicky D, Wang JG, Staessen JA. Efficacy of different drug classes used to initiate antihypertensive treatment in black subjects: results of a randomized trial in Johannesburg. South Africa. Arch Intern Med 2001;161:965-71.Dean J, Dean DA, Coloumbier D, Brebdel KA, Smith DC, Burton AH, et al. Epi Info 3.2- 2004. A word processing, database, and statistic software for public health professionals. Center for Disease Control and Prevention (Atlanta, USA), and World Health Organization (Geneva, Switzerland), 2004,Schneider S, Roessli D, Excoffier L. Arlequin ver 2000. A software for population genetics analysis. Genetics and Biometry Laboratory, Department of Anthropology and Ecology, University of Geneva, Swizerland, 2000. Disponible en http://anthro.unige.ch/arlequin.Morroni AL, Metzger IF, Souza-Costa DC, Nagassaki S, Sandrin VC, Correa RX, RiosSantos F, Tanus-Santos JE. Consistent interethnic differences in the distribution of clinically relevant endothelial nitric oxide synthase genetic polymorphisms. Nitric Oxide 2005;12:177-82.Stein CM, Lang CC, Xie HG, Wood AJ. Hypertension in black people: study of specific genotypes and phenotypes will provide a greater understanding of interindividual and interethnic variability in blood pressure regulation than studies based on race. Pharmacogenesis 2001;11:95-110.Nakayama M, Yasue H, Yoshimura Y, Shimasaki K, Kugiyama H, Ogawa T, Motoyama T, Saito Y, Ogawa Y, Miyamoto Y. T-786C mutation in the 5”“-flanking region of the endothelial nitric oxide synthase gene is associated with coronary spasm. Circulation 1999;99:2864-70.Hingorani AD, Liang CF, Fatibene J, Lyon A, Monteith S, Personds A. A common variant of the endothelial nitric oxide synthase (Glu298Asp) is a major risk factor coronary artery disease in the UK. Circulation 1999;100:1515-20.Lacolly P, Gauler S, Poirier O, Pannier B, Cambien F, Benetos F. Nitric Oxide synthase gene polymorphism, blood pressure and aortic stiffness in normothensive and hypertensive subjects. J Hypertension 1998;16:31-6.Lembo G, Luca N, Battagli C, Lovino G, Aretini A, Musicco M. A common variant of endothelial nitric oxide synthase (Glu298Asp) is an independent risk factor for carotid atherosclesrosis. 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