Полиморфизм гена NOS3 эндотелиальной (еNOS) синтазы оксида азота как предиктор формирования сосудистых патологий
Ключевые слова:
оксид азота, эндотелиальная NO-синтаза (еNOS), ген эндотелиальной синтазы оксида азота (NOS3), аллель, однонуклеотидный полиморфизм (SNP)Аннотация
Данный обзор литературы посвящен проблеме интерпретации научных изысканий в области полиморфизма гена NOS3 эндотелиальной (еNOS) синтазы оксида азота. Трудность заключается в правильной оценке ассоциаций аллелей и различных состояний, которые имеют клиническое значение.
Библиографические ссылки
Аверьянова, И.В. Полиморфизм – 786Т>С (rs2070744) гена NOS 3 как фактор риска формирования гемодинамических нарушений жителей-северян / И. В. Аверьянова, И. Н. Безменова // Артериальная гипертензия. – 2023. – Т. 29. – № 4. – С. 411-418.
Averyanova I.V., Bezmenova I.N. Polimorfizm – 786T>S (rs2070744) gena NOS 3 kak faktor riska formirovaniya gemodinamicheskikh narushenij zhitelej-severyan [Polymorphism – 786T>C (rs2070744) of the NOS 3 gene as a risk factor for the formation of hemodynamic disorders of the Northern residents]. Arterial`naya Gipertenziya [Arterial Hypertension]. 2023, vol. 29, no. 4, pp. 411-418. (In Russian)
Лукша, А. В. Влияние полиморфизмов 894G/T и Т786С гена эндотелиальной синтазы оксида азота на уровень продуктов их экспрессии – eNOS и NO у детей с артериальной гипертензией / А.В. Лукша [и др.] // Практическая медицина. – 2022. – Т. 20. – № 7. – С. 46-51.
Luksha A.V. et al. Vliyanie polimorfizmov 894G/T i T786S gena e`ndotelial`noj sintazy` oksida azota na uroven` produktov ikh e`kspressii – eNOS i NO u detej s ar-terial`noj gipertenziej [Influence of polymorphisms 894G/T and T786C of endothelial nitric oxide synthase gene on the level of their expression products - eNOS and NO in children with arterial hypertension]. Prakticheskaya mediczina [Practical Medicine]. 2022, vol. 20, no. 7, pp. 46-51. (In Russian)
Пашкевич, А. В. Полиморфизм гена NOS3 (G894T) у пациентов с сочетанием бронхиальной астмы и сахарного диабета 2 типа / А. В. Пашкевич, О. В. Серебрякова // Забайкальский медицинский вестник. – 2024. – № 1. – С. 75-80. DOI : 10.52485/19986173_2024_1_1.
Pashkevich A.V., Serebryakova O.V. Polimorfizm gena NOS3 (G894T) u paczientov s sochetaniem bronkhial`noj astmy` i sakharnogo diabeta 2 tipa [Polymorphism of NOS3 gene (G894T) in patients with a combination of bronchial asthma and diabetes mellitus type 2]. Zabajkal`skij mediczinskij vestnik [Transbaikal Medical Bulletin]. 2024, no. 1, pp. 75-80. (In Russian)
Шишкина, Е. А. Полиморфизм T786C гена эндотелиальной синтазы оксида азота как фактор риска повторного инфаркта миокарда у больных молодого и среднего возраста / Е.А. Шишкина [и др.] // Медицинский алфавит. – 2020. – № 28. – С. 17-21.
Shishkina E.A. et al. Polimorfizm T786C gena e`ndotelial`noj sintazy` oksida azota kak faktor riska povtornogo infarkta miokarda u bol`ny`kh molodogo i srednego vozrasta [T786C polymorphism of the endothelial nitric oxide synthase gene as a risk factor for recurrent myocardial infarction in young and middle-aged patients]. Mediczinskij alfavit[Medical Alphabet]. 2020, no. 28, pp. 17-21. (In Russian)
Полиморфизм гена NOSIII (G894Т) и резистентная артериальная гипертензия в узбекской популяции / Ш.М. Машарипов [и др.] // Journal of cardiorespiratory research = Журнал кардиореспираторных исследований. – 2023. – № 1. – С. 55-60.
Masharipov Sh.M. et al. Polimorfizm gena NOSIII (G894T) i rezistentnaya arterial`naya gipertenziya v uzbekskoj populyaczii [NOSIII gene polymorphism (G894T) and resistant arterial hypertension in the Uzbek population]. Zhurnal kardiorespiratorny`kh issledovanij [Journal of cardiorespiratory research]. 2023, no. 1, pp. 55-60. (In Russian)
An endothelial nitric oxide synthase gene polymorphism is associated with preeclampsia / C.B. Tempfer [et al.] // Hypertens Pregnancy. – 2001. – Vol. 20. – P. 107-118.
Analysis of Heart Rate Variability and Implication of Different Factors on Heart Rate Variability / R. Tiwari [et al.] // Current Cardiology Reviews. – 2021. – Vol. 17(5). – P. 74-83. DOI: https://doi.org/10.2174/1573403X16999201231203854.
Association analyses between genetic polymorphisms of endothelial nitric oxide synthase gene and hypertension in Japanese: The Suita Study / Y. Tsujita [et al.] // J Hypertens. – 2001. – Vol. 19. – P. 1941-1948.
Association between eNOS 4b/a polymorphism and the risk of diabetic retinopathy in type 2 diabetes mellitus: a meta-analysis / Ze-jun Ma [et al.] // Journal of Diabetes Research. – 2014. – Article ID 549747, 8 pages.
Association of endothelial nitric oxide synthase gene polymorphisms (894G/T, -786T/C, G10T) and clinical findings in patients with migraine / R. Eroz [et al.] // NeuroMolecular Medicine. – 2014. – Vol. 16. – Р. 587-593.
Association of endothelial nitric oxide synthase gene polymorphisms with type 2 diabetes mellitus: a meta-analysis / Z. Jia [et al.] // Endocrine Journal. – 2013. – Vol. 60 (7). – Р. 893-901.
Association of eNOS (G894T, rs1799983) and KCNJ11 (E23K, rs5219) gene polymorphism with coronary artery disease in North Indian population / S.T. Raza [et al.] // African Health Sciences. – 2021. – Vol. 21, Issue 3. – Р. 1163-1171. DOI:10.4314/ahs.v21i3.25.
Association of renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms with blood pressure progression and incident hypertension: prospective cohort study / D. Conen [et al.] // Journal of Hypertension. – 2008. – Vol. 26, Issue 9. – P. 1780–1786.
Association of the Glu298Asp polymorphism in the endothelial nitric oxide synthase gene with essential hypertension resistant to conventional therapy / M. Jáchymová // Biochem Biophys Res Commun. – 2001. – Vol. 284, Issue 2. – Р. 426-430.
Biochemical consequences of the NOS3 Glu298Asp variation in human endothelium: altered caveolar localization and impaired response to shear / M.S. Joshi [et al.] // The FASEB Journal. – 2007. – Vol. 21. – Р. 2655-2663.
Biogenesis of short intronic repeat 27-nucleotide small RNA from endothelial nitricoxide synthase gene / M.X. Zhang [et al.] // J Biol Chem. – 2008. – Vol. 283. – P. 14685-14693.
Candidate genes and growth curves for adiposity in African- and European-American youth / R.H. Podolsky [et al.] // Int J Obes (Lond). – 2007. – Vol. 31. – P. 1491-1499.
β-Cell-selective regulation of gene expression by nitric oxide / A. Naatz [et al.] // Physiol Regul Integr Comp Physiol. – 2024. – Vol. 326, Issue 6. – R552-R566. DOI: 10.1152/ajpregu.00240.2023.
Clinical review: Prevalence and incidence of endocrine and metabolic disorders in the United States: a comprehensive review / S.H. Golden [et al.] // The Journal of Clinical Endocrinology and Metabolism. 2009. – Vol. 94, Iss.6. – Р. 1853-1878.
Consistent interethnic differences in the distribution of clinically relevant endothelial nitric oxide synthase genetic polymorphisms / A.S. Marroni [et al.] // Nitric Oxide. – 2005. – Vol. 12, Issue 3. – Р. 177-182.
Cooke, G.E. Endothelial nitric oxide synthase gene: prospects for treatment of heart disease / G.E Cooke, A. Doshi, P.F. Binkley // Pharmacogenomics. – 2007. – Vol. 8. – Р. 1723-1734.
Diabetes and vascular disease: pathophysiology, clinical consequences, and medical therapy: part I / M.A. Creager [et al.] // Circulation. – 2003. – Vol. 108. – Р. 1527-1532.
Effect of 27nt small RNA on endothelial nitric-oxide synthase expression / M.X. Zhang [et al.] // Mol Biol Cell. – 2008. – Vol. 19. – P. 3997-4005.
Effects of endothelial nitric oxide synthase gene polymorphisms on platelet function, nitric oxide release, and interactions with estradiol / J.E. Tanus-Santos [et al.] // Pharmacogenetics. – 2002. – Vol. 12. – P. 407-413.
Effects of time-restricted feeding on body weight, body composition and vital signs in low-income women with obesity: A 12-month randomized clinical trial / I.R. De Oliveira Maranhão Pureza [et al.] // Clinical Nutrition. – 2021. – Vol. 40(3). – P. 759-766. DOI: https://doi.org/10.1016/j.clnu.2020.06.036.
Endothelial dysfunction and raised plasma concentrations of asymmetric dimethylarginine in pregnant women who subsequently develop pre-eclampsia / M.D. Savvidou [et al.] // Lancet. – 2003. – Vol. 361. – P. 1511-1517.
Endothelial nitric oxide synthase: From biochemistry and gene structure to clinical implications of NOS3 polymorphisms / G.H. Oliveira-Paula [et al.] // Gene. – 2016. – Vol. 575, Issue 2, Part 3. – P. 584–599. DOI: 10.1016/j.gene.2015.09.061.
Endothelial nitric oxide synthase genotype and haplotype are not associated with diabetic retinopathy in diabetes type 2 patients / R.W.C. de Syllos [et al.] // Nitric Oxide. – 2006. – Vol. 15 – Р. 417-422.
Endothelial nitric oxide synthase gene is associated with diabetic macular edema in type 2 diabetes / T. Awata [et al.] // Diabetes Care. 2004. – Vol. 27. – Р. 2184-2190.
Endothelial nitric oxide synthase gene haplotypes and circulating nitric oxide levels significantly associate with risk of essential hypertension / A. Nejatizadeh [et al.] // Free Radic Biol Med. – 2008. – Vol. 44. – Р. 1912-1918.
Endothelial nitric oxide synthase haplotypes associated with hypertension do not predispose to cardiac hypertrophy / V. Vasconcellos [et al.] // DNA Cell Biol. – 2010. – Vol. 29. – P. 171-176.
Endothelial nitric oxide synthase gene haplotypes affect nitrite levels in black subjects / I.F. Metzger [et al.] // Pharmacogenomics J. – 2011. – Vol. 11, Issue 6. – Р. 393-399.
Endothelial nitric oxide synthase gene polymorphisms and the risk of diabetic nephropathy in type 2 diabetes mellitus / A. Shoukry [et al.] // Genet Test Mol Biomarkers. – 2012. – Vol. 16. – P. 574-579.
Endothelial nitric oxide synthase polymorphisms are associated with type 2 diabetes and the insulin resistance syndrome / L.D. Monti [et al.] // Diabetes. – 2003. – Vol. 52. – Р. 1270-1275.
Endothelial nitric oxide synthase polymorphism rs3918226 associated with hypertension does not affect plasma nitrite levels in healthy subjects / M.R. Luizon [et al.] // Hypertension. – 2012. – Vol. 59, Issue 6. – e52; author reply e53.
Endothelial nitric oxide synthase (Glu298Asp) polymorphism is an independent risk factor for migraine with aura / B. Borroni [et al.] // Headache. – 2006. – Vol. 46, Issue 10. – Р. 1575-1579.
Endothelial nitric oxide synthase VNTR (intron 4 a/b) polymorphism association with type 2 diabetes and its chronic complications / M. Mehrab-Mohseni [et al.] // Diabetes Res Clin Pract. – 2011. – Vol. 91, Issue 3. – Р. 348-352.
Endothelial Nitric Oxide Synthase (eNOS) and the Cardiovascular System: in Physiology and in Disease States / N. Tran [et al.] // Am J Biomed Sci Res. – 2022. – Vol. 15, Iss. 2. – Р. 153-177.
Endothelial NO synthase genotype and risk of preeclampsia: a multicenter case-control study / N.C. Serrano [et al.] // Hypertension. – 2004. – Vol. 44. – P. 702-707.
eNOS gene T-786C polymorphism modulates atorvastatin-induced increase in blood nitrite / S. Nagassaki [et al.] // Free Radical Biology and Medicine. – 2006. – Vol. 41, Iss. 7. – Р. 1044-1049.
eNOS haplotypes affect the responsiveness to antihypertensive therapy in preeclampsia but not in gestational hypertension / V.C. Sandrim [et al.] // Pharmacogenomics J. – 2010. – Vol. 10. – P. 40-45.
eNOS haplotype associated with hyperte2sion in obese children and adolescents / D.C. Souza-Costa [et al.] // Int J Obes (Lond). – 2011. – Vol. 35. – P. 387-392.
eNOS polymorphism associated with metbolic syndrome in children and adolescents / J.A. Miranda [et al.] // Mol Cell Biochem. – 2013. – Vol. 372. – Р. 155-160.
eNOS tag SNP haplotypes in hypertensive disorders of pregnancy / Ludmila Muniz [et al.] // DNA and Cell Biology. – 2012. – Vol. 31. – Р. 1665-1670.
eNOS gene polymorphism is associated with endothelium-dependent vasodilation in Type 2 diabetes / M. Komatsu [et al.] // Am J Physiol Heart Circ Physiol. – 2002. – Vol. 283. – H557-561.
Functional gene testing of the Glu298Asp polymorphism of the endothelial NO synthase / M.P. Schneider [et al.] // J Hypertens. – 2000. – Vol. 18. – P. 1767-1773.
Gheibi, S. Insulin secretion: The nitric oxide controversy / S. Gheibi, A. Ghasemi // EXCLI J. – 2020. – Vol. 19. – Р. 1227–1245.
Haplotype-specific effects on endothelial NO synthase promoter efficiency: modifiable by cigarette smoking / J. Wang [et al.] // Arterioscler Thromb Vasc Biol. – 2002. – Vol. 22. – P. 1-4.
Inducible nitric oxide synthase haplotype associated with migraine and aura / T. de O.S. Mansur [et al.] // Molecular and Cellular Biochemistry. – 2012. – Vol. 364. – Р. 303-308.
Interaction among nitric oxide (NO)-related genes in migraine susceptibility/ F.M. Goncalves [et al.] // Molecular and Cellular Biochemistry. – 2012. – Vol. 370, Issue 1-2. – P. 183-189.
Interaction between the NOS3 gene and obesity as a determinant of risk of type 2 diabetes: the Atherosclerosis Risk in Communities study / J. Bressler [et al.] // PLoS One. – 2013. – Vol. 8 (11). – e79466.
Intron 4 a/b polymorphism of the endothelial nitric oxide synthase gene is associated with both type 1 and type 2 diabetes in a genetically homogeneous population / E. Galanakis [et al.] // Hum Immunol. – 2008. – Vol. 69. – Р. 279-283.
Lacchini, R. A pharmacogenetics-based approach to reduce cardiovascular mortality with the prophylactic use of statins / R. Lacchini, P.S.Silva, J.E. Tanus-Santos // Basic Clin Pharmacol Toxicol. – 2010. – Vol. 106. – Р. 357-361.
Lack of association of endothelial nitric oxide synthase polymorphisms and migraine / M. Toriello [et al.] // Headache. – 2008. – Vol. 48. – P. 1115-1119.
Migraine prevalence by age and sex in the United States: a life-span study / T.W. Victor [et al.] // Cephalalgia. – 2010. – Vol. 30. – P. 1065-1072.
No association of the Asp298 variant of the endothelial nitric oxide synthase gene with preeclampsia / R. Landau // American Journal of Hypertension. – 2004. – Vol. 17. – Р. 391-394.
NOS3 894G>T polymorphism is associated with progression of kidney disease and cardiovascular morbidity in type 2 diabetic patients: NOS3 as a modifier gene for diabetic nephropathy? / K. Kuricová [et al.] // Kidney Blood Press Res. – 2013. – Vol. 38. – Р. 92-98.
Nitric oxide deficiency as a cause of clinical hypertension: promising new drug targets for refractory hypertension / G.D. Thomas [et al.] // Jama. – 2001. – Vol. 285. – P. 2055-2057.
Nitric oxide synthase (NOS) single nucleotide polymorphisms are associated with coronary heart disease and hypertension in the INTERGENE study / A. Levinsson [et al.] // Nitric Oxide. – 2014. – Vol. 39. – P. 1-7.
Olesen, J. Nitric oxide-related drug targets in headache / J. Olesen // Neurotherapeutics. – 2010. – Vol. 7. – Р. 183-190.
Oliveira-Paula, G.H. Inducible nitric oxide synthase as a possible target in hypertension / G.H. Oliveira-Paula, R. Lacchini, J.E. Tanus-Santos // Curr Drug Targets. – 2014. – Vol. 15. – Р. 164-174.
Polymorphisms of rs1799983 (G>T) and rs1800780 (A>G) of the eNOS gene associated with susceptibility to essential hypertension in the Chinese Hui ethnic population / B. Yang [et al.] // Genet Mol Res. – 2013. – Vol. 12. – P. 3821-3829.
Qian, J. Post-translational regulation of endothelial nitric oxide synthase in vascular endothelium / J. Qian, D. Fulton // Frontiers in Physiology. – 2013. – Vol. 4. – Р. 347.
Replication protein A1 reduces transcription of the endothelial nitric oxide synthase gene containing a -786T-->C mutation associated with coronary spastic angina / Y. Miyamoto [et al.] // Human Molecular Genetics. – 2000. – Vol. 9. – Р. 2629-2637.
Role of nitric oxide in insulin secretion and glucose metabolism / Z. Bahadoran [et al.] // Trends Endocrinol Metab. – 2020. – Vol. 31. – P. 118–130.
Sansbury, B.E. Regulation of obesity and insulin resistance by nitric oxide / B.E. Sansbury, B.G. Hill // Free Radical Biology and Medicine. – 2014. – Vol. 73. – Р. 383-399.
Susceptible and protective eNOS haplotypes in hypertensive black and white subjects / V.C. Sandrim [et al.] // Atherosclerosis. – 2006. – Vol. 186. – P. 428-432.
Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility gene / E. Salvi [et al.] // Hypertension. – 2013. – Vol. 62. – P. 844-852.
Targeting autonomic nervous system as a biomarker of well-ageing in the prevention of stroke / J.-C. Barthelemy [et al.] // Frontiers in Aging Neuroscience. – 2022. – Vol. 14. – 969352. DOI: https://doi.org/10.1016/j.procs.2021.12.127.
The analysis of heart rate variability properties and body mass index in representing health quality information / I.A. Hassya [et al.] // Procedia Computer Science. – 2022. – Vol. 197(12). – P. 135-142. DOI: https://doi.org/10.1016/j.procs.2021.12.127.
The association between endothelial nitric oxide synthase gene G894T polymorphism and hypertension in Han Chinese: a case-control study and an updated meta-analysis / J. Liu [et al.] // Annals of Human Biology. – 2015. – Vol. 42, Issue 2. – Р. 184-194.
The effects of endothelial nitric oxide synthase tagSNPs on nitrite levels and risk of hypertension and obesity in children and adolescents / J.A. De Miranda [et al.] // Journal of human hypertension. – 2015. – Vol. 29, Iss. 2. – P. 109-114.
The polymorphism for endothelial nitric oxide synthase gene, the level of nitric oxide and the risk for pre-eclampsia: a meta-analysis / B. Dai [et al.] // Gene. – 2013. – Vol. 519, Iss.1. – P. 187-193.
The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure: the JNC 7 report / A.V. Chobanian [et al.] // Jama. – 2003. – Vol. 289. – Р. 2560-2572.
The significance of -786T > C polymorphism of endothelial NO synthase (eNOS) gene in severe preeclampsia / A. Seremak-Mrozikiewicz [et al.] // J Matern Fetal Neonatal Med. – 2011. – Vol. 24. – P. 432-436.
The T-786C and C774T endothelial nitric oxide synthase gene polymorphisms independently affect the onset pattern of severe diabetic retinopathy / M.J. Taverna [et al.] // Nitric Oxide. – 2005. – Vol. 13. – P. 88-92.
The T-786-->C mutation in endothelial nitric oxide synthase is associated with hypertension / M.E. Hyndman [et al.] // Hypertension. – 2002. – Vol. 39, Issue 4. – Р. 919-922.
The functional consequence of the Glu298Asp polymorphism of the endothelial nitric oxide synthase gene in young healthy volunteers / V. Godfrey [et al.] // Cardiovasc Drug Rev. – 2007. – Vol. 25, Iss.3. – Р. 280-288.
Three endothelial nitric oxide (NOS3) gene polymorphisms in hypertensive and normotensive individuals: meta-analysis of 53 studies reveals evidence of publication bias / T.V. Pereira [et al.]// Journal of Hypertension. – 2007. – Vol. 25, Iss. 9. – Р. 1763-1774.
Yagil, Y. Candidate genes, association studies and haplotype analysis in the search for the genetic basis of hypertension / Y. Yagil, C. Yagil // J Hypertens. – 2004. – Vol. 22. – Р. 1255-1258.
