¹Tashkent Medical Academy; ²Research Institute for Hematology and Blood Transfusion; ³The Republican Specialized Scientific-Practical Medical Centre of Therapy and Medical Rehabilitation; Tashkent, Uzbekistan
*Corresponding author: Umida K. Kamilova, PhD, ScD. The Republican Specialized Scientific - Practical Medical Centre of Therapy and Medical Rehabilitation; Tashkent, Uzbekistan. E-mail: firstname.lastname@example.org
This study aimed to evaluate the role of endothelial nitric oxide synthase (eNOS, type 3, NOS3) T-786C (rs2070744) gene polymorphism in chronic heart failure (CHF) manifestation in Uzbek patients. The study involved 81 CHF male patients, Uzbeks, aged from 41 to 70 years. The control group comprised 75 healthy, age-matched, randomly selected male persons. Genomic DNA was isolated and SNP genotyping was performed by using a polymerase chain reaction with specific primers followed by restriction fragment length polymorphism analysis. In CHF patients, the observed frequency of genotypes was as follows: TT = 0.556; CT = 0.432; CC = 0.012; the expected frequency of genotypes was as follows: TT = 0.595; CT = 0.352; CC = 0.052 (χ2=4.14, P=0.04). Deviation from Hardy–Weinberg equilibrium was noted due to an excess of heterozygosity. The results of our study have shown a significant association between CT genotype of NOS-3 T-786C gene polymorphism and CHF manifestation in patients of Uzbek nationality.
- Kitsios G, Zintzaras E. Genetic variation associated with ischemic heart failure: a HuGE review and meta-analysis. Am J Epidemiol 2007; 166(6):619–633.
- Snyder EM, Olson TP, Johnson BD. Genetics and pharmacogenetics in heart failure. Curr Heart Fail Rep 2007; 4(3):139–44.
- Khamidullaeva GA, Kevorkov AG, Eliseyeva MR. Genetic aspects of endothelial dysfunction in Uzbek hypertensive patients. Medical and Health Science Journal 2010; 4:30-36.
- Yang Z, Ming XF. Recent advances in understanding endothelial dysfunction in atherosclerosis. Clin Med Res 2006; 4(1):53-65.
- Horn P, Cortese-Krott MM, Amabile N, Hundsdörfer C, Kröncke KD, Kelm M, et al. Circulating microparticles carry a functional endothelial nitric oxide synthase that is decreased in patients with endothelial dysfunction. J Am Heart Assoc 2012; 2(1):e003764.
- Tsutsui H, Kinugawa S, Matsushima S. Mitochondrial oxidative stress and dysfunction in myocardial remodelling. Cardiovasc Res 2009; 81(3):449-56.
- Marti CN, Gheorghiade M, Kalogeropoulos AP, Georgiopoulou VV, Quyyumi AA, Butler J. Endothelial dysfunction, arterial stiffness, and heart failure. J Am Coll Cardiol 2012; 60(16):1455-69.
- Matsa LS, Rangaraju A, Vengaldas V, Latifi M, Jahromi HM, Ananthapur V, et al. Haplotypes of NOS3 gene polymorphisms in dilated cardiomyopathy. PLoS One 2013; 8(7): e70523.
- Bauersachs J, Widder JD. Endothelial dysfunction in heart failure. Pharmacol Rep 2008; 60(1):119-26.
- Belenkov YuN, Privalov E, Danilogorskaya YA. Oxidative stress in chronic heart failure. Possibilities of pharmacological correction. Cardiol Cardiovas Surg 2009; 1:4–8. [Article in Russian].
- Kamilova UK, Abdullaeva ChA. Evalution of parameters of endothelial disfunction and oxidative stress in patients with chronic heart failure. Eurasian J Inter Med 2014; 1:41-4. [Article in Russian].
- Palatkina LO, Korneev O, Drapkina M. Oxidative stress: role in the pathogenesis of chronic heart failure, correction capabilities. Cardiovas Ther Preven 2012; 11(6):91–4. [Article in Russian].
- Fairchild TA, Fulton D, Fontana JT, Gratton JP, McCabe TJ, Sessa WC. Acidic hydrolysis as a mechanism for the cleavage of the Glu298>Asp variant of human endothelial nitric-oxide synthase. J Biol Chem 2001; 276(28):26674–9.
- Lembo G, De Luca N, Battagli C, Iovino G, Aretini A, Musicco M, et al. A common variant of endothelial nitric oxide synthase (Glu298Asp) is an independent risk factor for carotid atherosclerosis. Stroke 2001; 32(3):735–740.
- Tepliakov AT, Shilov SN, Berezikova EN, Iakovleva NF, Maianskaia SD, Popova AA, et al. Polymorphism of eNOS and iNOS Genes and Chronic Heart Failure in Patients With Ischemic Heart Disease. Kardiologia 2010; 50(4):23-30. [Article in Russian].
- Salimi S, Firoozrai M, Zand H, Nakhaee A, Shafiee SM, Tavilani H, et al. Endothelial nitric oxide synthase gene Glu298Asp polymorphism in patients with coronary artery disease. Ann Saudi Med 2010; 30(1):33-7.
- Doshi AA, Ziolo MT, Wang H, Burke E, Lesinski A, et al. A promoter polymorphism of the endothelial nitric oxide synthase gene is associated with reduced mRNA and protein expression in failing human myocardium. J Card Fail 2010; 16(4):314–9.
- Ezzidi I, Mtiraoui N, Mohamed MB, Mahjoub T, Kacem M, Almawi WY. Association of endothelial nitric oxide synthase Glu298Asp, 4b/a, and -786T>C gene variants with diabetic nephropathy. J Diabetes Complications 2008; 22(5):331–8.
- Miyamoto Y, Saito Y, Kajiyama N, Yoshimura M, Shimasaki Y, Nakayama M, et al. Endothelial nitric oxide synthase gene is positively associated with essential hypertension. Hypertension 1998; 32:3–8.
- Hyndman ME, Parsons HG, Verma S, Bridge PJ, Edworthy S, Jones C, et al. The T-786-->C mutation in endothelial nitric oxide synthase is associated with hypertension. Hypertension. 2002; 39(4):919–22.
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IJBM 2014; 4(4) Suppl 1:S12-S14. © 2014 International Medical Research and Development Corporation. All rights reserved.