ПОЛИМОРФИЗМ ГЕНА ЭНДОТЕЛИАЛЬНОЙ СИНТАЗЫ МОНООКСИДА АЗОТА. ЧАСТЬ 2. ПОЛИМОРФНЫЕ ВАРИАНТЫ T786C, 4A/B

  • В. В. Зинчук УО "Гродненский государственный медицинский университет"
  • Д. Д. Жадько УО "Гродненский государственный медицинский университет"
Ключевые слова: эндотелиальная синтаза монооксида азота, генетический полиморфизм

Аннотация

Введение. Полиморфизм T786C, а также полиморфизм переменного числа тандемных повторов в 4-м интроне (4a/b) гена эндотелиальной синтазы монооксида азота имеют важное значение в процессах образования NO в организме.
Цель. Провести анализ литературы и собственных данных по распределению частот аллелей и генотипов, а также физиологических и патогенетических особенностей олиморфизмов Т786С и 4a/b.
Материал и методы. Для проведения анализа литературы была отобрана 41 научная публикация (2 отечественных и 39 зарубежных) за период с 2009 по 2016 гг.
Результаты. Полиморфные варианты Т786С и 4a/b гена эндотелиальной синтазы монооксида связаны с развитием ряда патологий и проявлением физиологических функций в организме.
Выводы. Определенное распределение частот аллелей и генотипов полиморфизмов T786C и 4a/b лежит в основе развития ряда заболеваний. Изучение особенностей полиморфных вариантов T786C и 4a/b важно для понимания механизмов, формирующих кислородный гомеостаз в организме.

Литература

Cruz-Gonzalez I, Corral E, Sanchez-Ledesma M, Sanchez- Rodriguez A, Martin-Luengo C, Gonzalez-Sarmiento R. Association between -T786C NOS3 polymorphism and resistant hypertension: a prospective cohort study BMC Cardiovasc. Disord. 2009;9:35. doi: 10.1186/1471-2261- 9-35.

Singh R, Ghoshal UC, Misra A, Mittal B. Achalasia Is Associated With eNOS4a4a, iNOS22GA, and nNOS29TT Genotypes: A Case-control Study. J. Neurogastroenterol. Motil. 2015;21(3):380-389. doi:10.5056/jnm14123.

Gu Z, Zhang Y, Qiu G. Promoter polymorphism T-786C, 894G→T at exon 7 of endothelial nitric oxide synthase gene are associated with risk of osteoporosis in Sichuan region male residents. Int. J. Clin. Exp. Pathol. 2015;8(11):15270-15274.

Krishnaveni D, Amar Chand B, Shravan Kumar P, Uma Devi M, Ramanna M, Jyothy A, Pratibha N, Balakrishna N, Venkateshwari A. Association of endothelial nitric oxide synthase gene T-786C promoter polymorphism with gastric cancer. World J. Gastrointest. Oncol. 2015;7(7):87- 94. doi: 10.4251/wjgo.v7.i7.87.

Zhadko DD, Stepuro TL. Vstrechaemost chastot alleley i genotipov polimorfizma T786C gena endotelialnoy sintazyi oksida azota u muzhchin. [CD-ROM]. In: Zinchuk VV, editor. Kislorod i svobodnyie radikalyi: sbornik materialov Mezhdunarodnoy nauchno-prakticheskoy konferentsii, [g. Grodno], 19-20 maja 2016 g. Grodno: GrGMU; 2016. p. 57-59. 1 CD-ROM.

Zinchuk VV, Zhadko DD, Stepuro TL, Hlutkina NV. Raspredelenie chastot alleley i genotipov polimorfnyih variantov G894T i T786C gena endotelialnoy sintazyi oksida azota u muzhchin [The allele and genotype frequency distribution of endothelial nitric oxide synthase gene G894T and T786C polymorphisms in men]. Novosti medikobiologicheskih nauk [News оf Вiomеdical Sciences]. 2016;4(3):17-21.

Jira M, Zavodna E, Honzikova N, Novakova Z, Vasku A, Izakovicova Holla L, Fiser B. Association of eNOS gene polymorphisms T-786C and G894T with blood pressure variability in man. Physiol. Res. 2011;60(1):193-197.

Salimi S, Naghavi A, Firoozrai M, Zand H, Tavilani H, Nakhaee A, Mohebbi A. Association of plasma nitric oxide concentration and endothelial nitric oxide synthase T-786C gene polymorphism in coronary artery disease. Pathophysiology. 2012;19(3):157-162. doi: 10.1016/j. pathophys.2012.04.003.

Liu R, Geng P, Ma M, Yu S, Wang X, Zhang W, Di H. Association between endothelial nitric oxide synthase gene polymorphism (T-786C) and ischemic stroke susceptibility: a meta-analysis. Int. J. Neurosci. 2014;124(9):642- 651. doi: 10.3109/00207454.2013.873978.

Hashimoto M, Miyai N, Hattori S, Iwahara A, Utsumi M, Arita M, Takeshita T. Age and gender differences in the influences of eNOS T-786C polymorphism on arteriosclerotic parameters in general population in Japan. Environ. Health Prev. Med. 2016;21(4):274-282. doi: 10.1007/ s12199-016-0527-1.

Zago AS, Kokubun E, Fenty-Stewart N, Park JY, Attipoe S, Hagberg J, Brown M. Effect of physical activity and t-786C polymorphism in blood pressure and blood flow in the elderly. Arq. Bras. Cardiol. 2010;95(4):510-516.

Popov AF, Henker C, Schmitto JD, Wiese CH, Coskun KO, Moerer O, Danner BC, Schoendube FA, Quintel M, Hinz J. Clinical relevance of eNOS T-786C polymorphism for hospital mortality and morbidity in cardiac surgical patients. J. Cardiovasc. Surg. 2010;51(2):265-272.

Han Y, Xu W, Zhang W, Liu N, Ji Y. T-786C polymorphism in the endothelial nitric oxide synthase gene is associated with increased risk of coronary artery disease in a Chinese population. Pharmacology. 2010;85(4):211-216. doi: 10.1159/000275135.

Song P, Zou S, Chen T, Chen J, Wang Y, Yang J, Song Z, Jiang H, Shi H, Huang Y, Li Z, Shi Y, Hu H. Endothelial nitric oxide synthase (eNOS) T-786C, 4a4b, and G894T polymorphisms and male infertility: study for idiopathic asthenozoospermia and meta-analysis. Biol. Reprod. 2015;92(2):38-46. doi: 10.1095/biolreprod.114.123240.

Safarinejad MR, Safarinejad S, Shafiei N, Safarinejad S. Effects of the T-786C, G894T, and Intron 4 VNTR (4a/b) polymorphisms of the endothelial nitric oxide synthase gene on the risk of prostate cancer. Urol. Oncol. 2013;31(7):1132-1140. doi: 10.1016/j.urolonc. 2012.01.002.

Safarinejad MR, Khoshdel A, Shekarchi B, Taghva A, Safarinejad S. Association of the T-786C, G894T and 4a/4b polymorphisms of the endothelial nitric oxide synthase gene with vasculogenic erectile dysfunction in Iranian subjects. BJU Int. 2011;107(12):1994-2001.

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. doi: 10.1002/mrd.21210.

Liu L, Huang X, Cai Y, Du J, Feng K, Lu H. [Association of G-894T and T-786C polymorphisms of endothelial nitric oxide synthase gene with sporadic intracranial aneurysms]. Nan Fang Yi Ke Da Xue Xue Bao [Journal of Southern Medical University]. 2013;33(12):1733-1737.

Löffers C, Heilig B, Hecker M. T-786C single nucleotide polymorphism of the endothelial nitric oxide synthase gene as a risk factor for endothelial dysfunction in polymyalgia rheumatica. Clin. Exp. Rheumatol. 2015;33(5):726-730.

Stepanovа Ye, Kolpakov I, Kondrashovа V, Vdovenko V, Lytvynets О, Skvarska A, Zygalo V. Polіmorfіzm genіv NO-sintazi, jak faktor riziku v rozvitku endotelіal’noї disfunkcії, funkcіonal’nih rozladіv sistemi dihannja ta vegetativoї nervovoї sistemi u dіtej-meshkancіv radіoaktivno zabrudnenih teritorіj [NO-synthase gene polymorphism as a risk factor for the development of endothelial dysfunction, functional disorders of the respiratory and autonomic nervous system in children dwelling in contaminated territories]. In: Voronenko Ju, editor. Zbіrnik naukovih prac’ spіvrobіtnikіv NMAPO іm. P.L. Shupika [Collection of scientific works of staff member of P. L. Shupyk NMAPE]. Kyiv; 2015;24(3):354-364.

Rahimi Z, Aghaei A, Rahimi Z, Vaisi-Raygani A. Endothelial Nitric Oxide Synthase (eNOS) 4a/b and G894T Polymorphisms and Susceptibility to Preeclampsia. J. Reprod. Infertil. 2013;14(4):184-189.

Polat F, Diler SB, Azazi I, Oden A. T-786C, G894T, and intron 4 VNTR (4a/b) polymorphisms of the endothelial nitric oxide synthase gene in bladder cancer cases. Asian Pac. J. Cancer. Prev. 2015;16(6):2199-2202.

Sivri N, Unlu A, Palabiyik O, Budak M, Kacmaz Y, Yalta K, Sipahi T. Endothelial nitric oxide synthase intron 4a/b polymorphism in coronary artery disease in Thrace region of Turkey. Biotechnol. Biotechnol. Equip. 2014;28(6):1115-1120.

Zhang L, Chen LM, Wang MN, Chen XJ, Li N, Huang YD, Chen M. The G894t, T-786С and 4b/a polymorphisms in Enos gene and cancer risk: a meta-analysis. J. Evid. Based Med. 2014;7(4):263-269. doi: 10.1111/jebm.12126.

Ramirez-Patino R, Figuera LE, Puebla-Perez AM, Delgado-Saucedo JI, Legazpi-Macias MM, Mariaud- Schmidt RP, Ramos-Silva A, Gutierrez-Hurtado IA, Gomez Flores-Ramos L, Zuniga-Gonzalez GM, Gallegos-Arreola MP. Intron 4 VNTR (4a/b) polymorphism of the endothelial nitric oxide synthase gene is associated with breast cancer in Mexican women. J. Korean Med. Sci. 2013;28(11):1587-1594. doi: 10.3346/jkms.2013.28.11.1587.

Gao X, Wang J, Wang W, Wang M, Zhang J. ENOS Genetic Polymorphisms and Cancer Risk: A Meta-Analysis and a Case-Control Study of Breast Cancer. Medicine (Baltimore). 2015;94(26):e972

Nikolic ZZ, Pavicevic DL, Romac SP, Brajuskovic GN. Genetic variants within endothelial nitric oxide synthase gene and prostate cancer: a meta-analysis. Clin. Transl. Sci. 2015;8(1):23-31. doi: 10.1111/cts.12203.

Yousry SM, Ellithy HN, Shahin GH. Endothelial nitric oxide synthase gene polymorphisms and the risk of vasculopathy in sickle cell disease. Hematology.2016;

(6):359- 367.doi: 10.1080/10245332.2016.1142710.

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):2571-2583. doi: 10.1007/s11033-014-3115-8.

Wei LK, Au A, Menon S, Gan SH, Griffiths LR. Clinical Relevance of MTHFR, eNOS, ACE, and ApoE Gene Polymorphisms and Serum Vitamin Profile among Malay Patients with Ischemic Stroke. J. Stroke Cerebrovasc. Dis. 2015;24(9):2017-2025. doi: 10.1016/j.jstrokecerebrovasdis. 2015.04.011

Ekmekci A, Ozcan KS, Güngör B, Abaci N, Osmonov D, Zencirci A, Toprak E, Dönmez C, Ustek D, Gülec C, Eren M. The relationship between endothelial nitric oxide synthase 4a/4b gene polymorphism and premature coronary artery disease. Acta Cardiol. 2013;68(5):464-468.

Ekmekci A, Güngör B, Ozcan KS, Abaci N, Ilhan E, Ekmekci SS, Kemaloglu T, Osmonov D, Ustek D, Eren M. Evaluation of coronary microvascular function and nitric oxide synthase intron 4a/b polymorphism in patients with coronary slow flow. Coron. Artery Dis. 2013;24(6):461- 467. doi: 10.1097/MCA.0b013e328363258c.

Zheng L, Wang W, Ni J, Li Z, Xiao T. The association of eNOS gene polymorphism with avascular necrosis of femoral head. PLoS One. 2014;9(2):e87583. doi: 10.1371/ journal.pone.0087583.

Gagala J, Buraczynska M, Mazurkiewicz T, Ksiazek A. Endothelial nitric oxide synthase gene intron 4 polymorphism in non-traumatic osteonecrosis of the femoral head. Int. Orthop. 2013;37(7):1381-1385. doi: 10.1007/s00264- 013-1892-7

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):465-475. doi: 10.1016/j.orcp.2015.04.008.

Şener EF, Emiroğulları ÖN, Serhatlıoğlu F, Özkul Y. The role of endothelial nitric oxide synthase gene G894T and intron 4 VNTR polymorphisms in hemodialysis patients with vascular access thrombosis. Anatol. J. of Cardiol. 2014;14(3):239-243. doi: 10.5152/akd.2013.4779.

Sinici I, Kalyoncu U, Karahan S, Kiraz S, Atalar E.Endothelial nitric oxide gene polymorphism and risk of systemic sclerosis: predisposition effect of T-786C promoter and protective effect of 27 bp repeats in Intron 4. Clin. Exp. Rheumatol. 2010;28(2):169-175.

Bunjevacki V, Maksimovic N, Jekic B, Milic V, Lukovic L, Novakovic I, Damjanov N, Radunovic G, Damnjanovic T. Polymorphisms of the eNOS gene are associated with disease activity in rheumatoid arthritis. Rheumatol. Int. 2016;36(4):597-602. doi: 10.1007/s00296-015-3401-3.

Zhao S, Li T, Zheng B, Zheng Z. Nitric oxide synthase 3 (NOS3) 4b/a, T-786C and G894T polymorphisms in association with diabetic retinopathy susceptibility: a metaanalysis. Ophthalmic. Genet. 2012;33(4):200-207. doi: 10.3109/13816810.2012.675398.

She C, Yang X, Gu H, Deng Y, Xu J, Ma K, Liu N. [The association of variable number of tandem repeats polymorphism in the endothelial nitric oxide synthase gene and diabetic retinopathy]. Zhonghua Yan Ke Za Zhi [Chinese journal of ophthalmology]. 2015;51(5):338-343.

Vallance P, Hingorani A. Endothelial nitric oxide in humans in health and disease. Int. J. Exp. Pathol. 1999;80(6):291- 303. doi: 10.1046/j.1365-2613.1999.00137.x.




Загрузок PDF: 170
Опубликован
2017-09-07
Как цитировать
1.
Зинчук ВВ, Жадько ДД. ПОЛИМОРФИЗМ ГЕНА ЭНДОТЕЛИАЛЬНОЙ СИНТАЗЫ МОНООКСИДА АЗОТА. ЧАСТЬ 2. ПОЛИМОРФНЫЕ ВАРИАНТЫ T786C, 4A/B. Журнал ГрГМУ (Journal GrSMU) [Интернет]. 7 сентябрь 2017 г. [цитируется по 3 декабрь 2022 г.];15(3):267-74. доступно на: http://journal-grsmu.by/index.php/ojs/article/view/2122