Biopolym. Cell. 2018; 34(5):331-349.
Огляди
Поліморфізм генів ренін-ангіотензинової системи та гена ендотеліальної NO-синтази у хворих на артеріальну гіпертензію з ожирінням
1Ащеулова Т. В., 1Герасимчук Н. М., 1Демиденко Г. В., 1Кулікова М. В.
- Харківський національний медичний університет
Пр. Наукі, 4, Харків, Україна, 61001
Abstract
У статті представлений клінічно встановлений взаємозв'язок підвищеного артеріального тиску зі збільшенням маси тіла. Показано, що ендотеліальна дисфункція і дисбаланс нейро-гуморальних систем, а саме патологічне підвищення активності ренін-ангіотензинової системи, виступають провідними механізмами патогенезу гіпертонічної хвороби в поєднанні з ожирінням. Даний огляд літератури присвячений інтерпретації наукових досліджень в області поліморфізму генів ренін ангіотензинової сиcтеми і гена ендотеліальної синтази оксиду азоту. Складність полягає в правильній оцінці асоціацій алелей, які мають клінічне значення. Особливо важливо завжди точно визначати асоціації поліморфізму генів при гіпертонічній хворобі з ожирінням. Інформація про подібні асоціації і зв'язки надає можливість для пошуку нових тактик і мішеней впливу, що розвиває персоніфіковані підходи до терапії пацієнтів з даною комплексною патологією.
Keywords: ендотеліальна синтаза оксиду азоту, ренін-ангітензінова система, поліморфізм генів, гіпертонічна хвороба, ожиріння
Повний текст: (PDF, англійською)
References
[1]
Donev RM, Howell OW. Polymorphisms in neuropsychiatric and neuroinflammatory disorders and the role of next generation sequencing in early diagnosis and treatment. Adv Protein Chem Struct Biol. 2012;89:85-116. Review.
[2]
World Health Organization. 2008-2013 Action plan for the global strategy for the prevention and control of noncommunicable diseases. WHO, Geneva, 2009:42
[3]
Casas JP, Cavalleri GL, Bautista LE, Smeeth L, Humphries SE, Hingorani AD. Endothelial nitric oxide synthase gene polymorphisms and cardiovascular disease: a HuGE review. Am J Epidemiol. 2006;164(10):921-35.
[4]
Keats BJB, Sherman SL Population Genetics. In: Emery and Rimoin's Principles and Practice of Medical Genetics. Academic Press (Sixth Edition). 2013: 1-12
[5]
Förstermann U, Münzel T. Endothelial nitric oxide synthase in vascular disease: from marvel to menace. Circulation. 2006;113(13):1708-14.
[6]
Prasad A, Narayanan S, Husain S, Padder F, Waclawiw M, Epstein N, Quyyumi AA. Insertion-deletion polymorphism of the ACE gene modulates reversibility of endothelial dysfunction with ACE inhibition. Circulation. 2000;102(1):35-41.
[7]
Giacchetti G, Ronconi V, Turchi F, Agostinelli L, Mantero F, Rilli S, Boscaro M. Aldosterone as a key mediator of the cardiometabolic syndrome in primary aldosteronism: an observational study. J Hypertens. 2007;25(1):177-86.
[8]
Heeneman S, Sluimer JC, Daemen MJ. Angiotensin-converting enzyme and vascular remodeling. Circ Res. 2007;101(5):441-54.
[9]
Leoncini G, Ratto E, Viazzi F, Vaccaro V, Parodi D, Parodi A, Falqui V, Tomolillo C, Deferrari G, Pontremoli R. Metabolic syndrome is associated with early signs of organ damage in nondiabetic, hypertensive patients. J Int Med. 2005; 257(5):454-60.
[10]
Lahera V, Cachofeiro V, de Las Heras N. Interplay of hypertension, inflammation, and angiotensin II. Am J Hypertens. 2011;24(10):1059.
[11]
Andrew PJ, Mayer B. Enzymatic function of nitric oxide synthases. Cardiovasc Res. 1999;43(3):521-31.
[12]
Alberti KG, Zimmet P, Shaw J; IDF Epidemiology Task Force Consensus Group. The metabolic syndrome--a new worldwide definition. Lancet. 2005 Sep 24-30;366(9491):1059-62.
[14]
Rodriguez BL, D'Agostino R, Abbott RD, Kagan A, Burchfiel CM, Yano K, Ross GW, Silbershatz H, Higgins MW, Popper J, Wolf PA, Curb JD. Risk of hospitalized stroke in men enrolled in the Honolulu Heart Program and the Framingham Study: A comparison of incidence and risk factor effects. Stroke. 2002;33(1):230-6.
[15]
Brown CD, Higgins M, Donato KA, Rohde FC, Garrison R, Obarzanek E, Ernst ND, Horan M. Body mass index and the prevalence of hypertension and dyslipidemia. Obes Res. 2000;8(9):605-19.
[16]
Kondo H, Ninomiya T, Hata J, Hirakawa Y, Yonemoto K, Arima H, Nagata M, Tsuruya K, Kitazono T, Kiyohara Y. Angiotensin I-converting enzyme gene polymorphism enhances the effect of hypercholesterolemia on the risk of coronary heart disease in a general Japanese population: the hisayama study. J Atheroscler Thromb. 2015;22(4):390-403.
[17]
Purkait P, Halder K, Thakur S, Ghosh Roy A, Raychaudhuri P, Bhattacharya S, Sarkar BN, Naidu JM. Association of angiotensinogen gene SNPs and haplotypes with risk of hypertension in eastern Indian population. Clin Hypertens. 2017;23:12.
[18]
Mulder HJ, van Geel PP, Schalij MJ, van Gilst WH, Zwinderman AH, Bruschke A V G. DD ACE genepolymorphism is associated with increased coronary artery endothelial dysfunction: the PREFACE trial. Heart. 2003; 89(5): 557-8.
[19]
Sakhteh M, Poopak B, Amirizadeh N, Shamshiri A, Bagheri A, Faranoush M. Polymorphism and synergism of angiotensin-converting enzyme (ACE) and plasminogen activator inhibitor-1 (PAI-1) genes in coronary artery disease. J Renin Angiotensin Aldosterone Syst. 2015;16(4):1168-74.
[20]
Keavney B, McKenzie C, Parish S, Palmer A, Clark S, Youngman L, Delépine M, Lathrop M, Peto R, Collins R. Large-scale test of hypothesised associations between the angiotensin-converting-enzyme insertion/deletion polymorphism and myocardial infarction in about 5000 cases and 6000 controls. International Studies of Infarct Survival (ISIS) Collaborators. Lancet. 2000;355(9202):434-42.
[21]
Govindaraju DR, Adrienne Cupples L, Kannel WB, O'Donnell CJ, Atwood LD, D'Agostino RB Sr, Fox CS, Larson M, Levy D, Murabito J, Vasan RS, Lee Splansky G, Wolf PA, Benjamin EJ. Genetics of the Framingham Heart Study population. Adv Genet. 2008;62:33-65.
[22]
Kotlovskii MYu, Kotlovskaya OS, Osedko OYa, Kirichenko DS. Pokrovskii AA, Osedko AV, Govorun VM, Kotlovskii YuV. Polimorfizm gena angiotenzin-prevrashchayushchego fermenta u lyudei s gipertonicheskoi bolezn'yu i khronicheskoi formoi IBS. Fundamental Res. 2011;11(1):49-52.
[23]
Tseluyko VI, Bregvadze TR, Mishchuk NE, Vashakidze ZS. Angiotensin II type 1 receptor gene polymorphism and its influence upon efficiency of olmesartan treatment in patients with essential hypertension. Ukr Cardio J. 2013; 4:21-7.
[24]
Bonnardeaux A, Davies E, Jeunemaitre X, Féry I, Charru A, Clauser E, Tiret L, Cambien F, Corvol P, Soubrier F. Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension. Hypertension. 1994;24(1):63-9.
[25]
Buraczyńska M, Pijanowski Z, Spasiewicz D, Nowicka T, Sodolski T, Widomska - Czekajska T, Ksiazek A. Renin-angiotensin system gene polymorphisms: assessment of the risk of coronary heart disease. Kardiol Pol. 2003;58(1):1-9.
[26]
Dickson ME, Sigmund CD. Genetic basis of hypertension: revisiting angiotensinogen. Hypertension. 2006;48(1):14-20.
[27]
Sethi AA, Nordestgaard BG, Grønholdt ML, Steffensen R, Jensen G, Tybjaerg-Hansen A. Angiotensinogen single nucleotide polymorphisms, elevated blood pressure, and risk of cardiovascular disease. Hypertension. 2003;41(6):1202-11.
[28]
van Rijn MJ, Bos MJ, Isaacs A, Yazdanpanah M, Arias-Vásquez A, Stricker BH, Klungel OH, Oostra BA, Koudstaal PJ, Witteman JC, Hofman A, Breteler MM, van Duijn CM. Polymorphisms of the renin-angiotensin system are associated with blood pressure, atherosclerosis and cerebral white matter pathology. J Neurol Neurosurg Psychiatry. 2007;78(10):1083-7.
[29]
Ji LD, Zhang LN, Shen P, Wang P, Zhang YM, Xing WH, Xu J. Association of angiotensinogen gene M235T and angiotensin-converting enzyme gene I/D polymorphisms with essential hypertension in Han Chinese population: a meta-analysis. J Hypertens. 2010;28(3):419-28.
[30]
Cheng JL, Wang AL, Wan J. Association between the M235T polymorphism of the AGT gene and cytokines in patients with hypertension. Exp Ther Med. 2012;3(3):509-512.
[31]
Kuhlencordt PJ, Gyurko R, Han F, Scherrer-Crosbie M, Aretz TH, Hajjar R, Picard MH, Huang PL. Accelerated atherosclerosis, aortic aneurysm formation, and ischemic heart disease in apolipoprotein E/endothelial nitric oxide synthase double-knockout mice. Circulation. 2001;104(4):448-54.
[32]
Marsden PA, Heng HH, Scherer SW, Stewart RJ, Hall AV, Shi XM, Tsui LC, Schappert KT. Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J Biol Chem. 1993;268(23):17478-88.
[33]
Zhang R, Min W, Sessa WC. Functional analysis of the human endothelial nitric oxide synthase promoter. Sp1 and GATA factors are necessary for basal transcription in endothelial cells. J Biol Chem. 1995;270(25):15320-6.
[34]
Hyndman ME, Parsons HG, Verma S, Bridge PJ, Edworthy S, Jones C, Lonn E, Charbonneau F, Anderson TJ. The T-786-->C mutation in endothelial nitric oxide synthase is associated with hypertension. Hypertension. 2002;39(4):919-22.
[35]
Alvarez R, González P, Batalla A, Reguero JR, Iglesias-Cubero G, Hevia S, Cortina A, Merino E, González I, Alvarez V, Coto E. Association between the NOS3 (-786 T. C) and the ACE (I. D) DNA genotypes and early coronary artery disease. Nitric Oxide. 2001;5(4):343-8.
[36]
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(11):1359-65.
[37]
Kobashi G, Yamada H, Ohta K, Kato E, Ebina Y, Fujimoto S. Endothelial nitric oxide synthase gene (NOS3) variant and hypertension in pregnancy. Am J Med Genet. 2001;103(3):241-4.
[38]
Dias RG, Gowdak MM, Pereira AC. Genetics and cardiovascular system: influence of human genetic variants on vascular function. Genes Nutr. 2011;6(1):55-62.
[39]
Sakar MN, Atay AE, Demir S, Bakir VL, Demir B, Balsak D, Akay E, Ulusoy AI, Verit FF. Association of endothelial nitric oxide synthase gene G894T polymorphism and serum nitric oxide levels in patients with preeclampsia and gestational hypertension. J Matern Fetal Neonatal Med. 2015;28(16):1907-11.
[40]
Mackawy AM, Khan AA, Badawy Mel-S. Association of the endothelial nitric oxide synthase gene G894T polymorphism with the risk of diabetic nephropathy in Qassim region, Saudi Arabia-A pilot study. Meta Gene. 2014;2:392-402. ubMed PubMed Central
[41]
Katakami N, Kaneto H, Matsuoka TA, Takahara M, Osonoi T, Saitou M, Kawai K, Ishibashi F, Kashiwagi A, Kawamori R, Shimomura I, Yamasaki Y. Accumulation of oxidative stress-related gene polymorphisms and the risk of coronary heart disease events in patients with type 2 diabetes--an 8-year prospective study. Atherosclerosis. 2014;235(2):408-14.
[42]
Joshi MS, Wattanapitayakul S, Schanbacher BL, Bauer JA. Effects of human endothelial gene polymorphisms on cellular responses to hyperglycaemia: role of NOS3 (Glu298Asp) and ACE (I/D) polymorphisms. Diab Vasc Dis Res. 2011;8(4):276-83.
[43]
Kuznetsova TY, Gavrilov DV, Samokhodskaya LM, Postnov AYu, Boitsov SA. Influence of polymorphism glu298asp of gene of endothelial NO-2 synthase on the development of target organs damage in the establishment of arterial hypertension at an early age. Sibir Med J. 2010; 25(2-1):33-8.
[44]
Grøntved A, Andersen LB, Franks PW, Verhage B, Wareham NJ, Ekelund U, Loos RJ, Brage S. NOS3 variants, physical activity, and blood pressure in the European Youth Heart Study. Am J Hypertens. 2011;24(4):444-50.
[45]
Martínez-Godínez Á, Miliar-García Á, Bautista-Jiménez MI, Jandete-Rivera F, Vera-Lastra OL, Jara LJ, Bizueto-Rosas H, del Pilar Cruz-Domínguez M. [Carotid and brachial intima-media thickness of the allelic variants G894T and T-789C of eNOS in systemic sclerosis patients]. Rev Med Inst Mex Seguro Soc. 2015;53 Suppl 1:S46-52.
[46]
García-González I, Solís-Cárdenas A, Flores-Ocampo JA, Alejos-Mex R, Herrera-Sánchez LF, González-Herrera LJ. G894T (NOS3) and G1958A (MTHFD1) gene polymorphisms and risk of ischemic heart disease in Yucatan, Mexico. Clíne Investig Arterioscler. 2015; 27( 2): 64-73.
[47]
Guo X. Endothelial nitric oxide (eNOS) gene G894T and VNTR polymorphisms are closely associated with the risk of ischemic stroke development for Asians: meta-analysis of epidemiological studies. Mol Biol Rep. 2014;41(4):2571-83.
[48]
Liu J, Wang L, Liu Y, Wang Z, Li M, Zhang B, Wang H, Liu K, Wen S. The association between endothelial nitric oxide synthase gene G894T polymorphism and hypertension in Han Chinese: a case-control study and an updated meta-analysis. Ann Hum Biol. 2015;42(2):184-94.
[49]
Wrzosek M, Sokal M, Sawicka A, Wlodarczyk M, Glowala M, Wrzosek M, Kosior M, Talalaj M, Biecek P, Nowicka G. Impact of obesity and nitric oxide synthase gene G894T polymorphism on essential hypertension. J Physiol Pharmacol. 2015;66(5):681-9.
[50]
Nasr HB, Dimassi S, M'hadhbi R, Debbabi H, Kortas M, Tabka Z, Chahed K. Functional G894T (rs1799983) polymorphism and intron-4 VNTR variant of nitric oxide synthase (NOS3) gene are susceptibility biomarkers of obesity among Tunisians. Obes Res Clin Pract. 2016;10(4):465-75.
[51]
Kravchenko NA, Iarmysh NV. [Regulation of endothelial NO-synthase expression and vascular endothelium dysfunction in cardiovascular pathology]. Tsitol Genet. 2008;42(4):69-81.
[52]
Fatini C, Sofi F, Sticchi E, Gensini F, Gori AM, Fedi S, Lapini I, Rostagno C, Comeglio M, Brogi D, Gensini G, Abbate R. 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):516-21.
[53]
Tong Y, Yin X, Wang Z, Zhan F, Zhang Y, Ye J, Hou S, Geng Y, Li Y, Guan X, Jiang Y, Zhang L, Dai J, Mason KA, Liu J, Lu Z, Cheng J. A tailed primers protocol to identify the association of eNOS gene variable number of tandem repeats polymorphism with ischemic stroke in Chinese Han population by capillary electrophoresis. Gene. 2013;517(2):218-23.
[54]
Rossi GP, Taddei S, Virdis A, Cavallin M, Ghiadoni L, Favilla S, Versari D, Sudano I, Pessina AC, Salvetti A. The T-786C and Glu298Asp polymorphisms of the endothelial nitric oxide gene affect the forearm blood flow responses of Caucasian hypertensive patients. J Am Coll Cardiol. 2003;41(6):938-45.
[55]
Naber ChK, Frey UH, Oldenburg O, Brauck K, Eggebrecht H, Schmermund A, Baumgart D, Erbel R, Siffert W, Heusch G. Relevance of the NOS3 T-786C and G894T variants for cholinergic and adrenergic coronary vasomotor responses in man. Basic Res Cardiol. 2005;100(5):453-60.
[56]
Gomma AH, Elrayess MA, Knight CJ, Hawe E, Fox KM, Humphries SE. The endothelial nitric oxide synthase (Glu298Asp and -786T>C) gene polymorphisms are associated with coronary in-stent restenosis. Eur Heart J. 2002;23(24):1955-62.
[57]
Degaeva TA, Radajkina OG, Usanova AA, Goncharova LN, Antipova VN, Fazlova IH, Guranova NN. Polimorfizm gena jendotelial'noj sintazy oksida azota-3 u bol'nyh arterial'noj gipertoniej i saharnym diabetom II tipa, prozhivajushhih na territorii respubliki Mordovija. Mordovia University Bulletin. 2013; 1-2: 53-6.
[58]
Bebjakova NA, Hromova AV, Feliksova OM. Vzaimosvjaz' perifericheskoj vazokonstrikcii s polimorfizmom T-786S gena jendotelial'noj sintazy oksida azota. Fundamental'nye issledovanija. 2013; 12(2); 176-9.
[59]
Casas JP, Cavalleri GL, Bautista LE, Smeeth L, Humphries SE, Hingorani AD. Endothelial nitric oxide synthase gene polymorphisms and cardiovascular disease: a HuGE review. Am J Epidemiol. 2006;164(10):921-35.
[60]
Hyndman ME, Parsons HG, Verma S, Bridge PJ, Edworthy S, Jones C, Lonn E, Charbonneau F, Anderson TJ. The T-786-->C mutation in endothelial nitric oxide synthase is associated with hypertension. Hypertension. 2002;39(4):919-22.
[61]
Liu CS, Huang RJ, Sung FC, Lin CC, Yeh CC. Association between endothelial nitric oxide synthase polymorphisms and risk of metabolic syndrome. Dis Markers. 2013;34(3):187-97.
[62]
Bressler J, Pankow JS, Coresh J, Boerwinkle E. Interaction between the NOS3 gene and obesity as a determinant of risk of type 2 diabetes: the Atherosclerosis Risk in Communities study. PLoS One. 2013;8(11):e79466.
[63]
Colombo MG, Paradossi U, Andreassi MG, Botto N, Manfredi S, Masetti S, Biagini A, Clerico A. Endothelial nitric oxide synthase gene polymorphisms and risk of coronary artery disease. Clin Chem. 2003;49(3):389-95.
[64]
Vecchione C, Villa F, Carrizzo A, Spinelli CC, Damato A, Ambrosio M, Ferrario A, Madonna M, Uccellatore A, Lupini S, Maciag A, Ryskalin L, Milanesi L, Frati G, Sciarretta S, Bellazzi R, Genovese S, Ceriello A, Auricchio A, Malovini A, Puca AA. A rare genetic variant of BPIFB4 predisposes to high blood pressure via impairment of nitric oxide signaling. Sci Rep. 2017;7(1):9706.
[65]
Akilzhanova A, Kozhamkulov U, Kairov U, Rakhimova S, Akhmetova A, Yerezhepov D, Molkenov A, Abilova1 Z, Zhumadilov Z. Determination of genetic variants associated with hypertension, obesity and diabetes in Kazakh population to study interaction of genetic variants and metabolome. Meditsina i Zdravoohranenie. 2016; 5: 30-42.
[66]
Kim YK, Hwang MY, Kim YJ, Moon S, Han S, Kim BJ. Evaluation of pleiotropic effects among common genetic loci identified for cardio-metabolic traits in a Korean population. Cardiovasc Diabetol. 2016;15:20.
