INCIDENCE OF ALLELIC POLYMORPHISMS I337V, E23K OF KCNJ11 GENE AND S1369A OF ABCC8 GENE ENCODING KATP-CHANNELS, IN PATIENTS WITH MYOCARDIAL INFARCTION, ARTERIAL HYPERTENSION AND HEART FAILURE
R.B. Strutynskyi1, O.M. Parkhomenko2, L.G. Voronkov2, M.V. Khaitovych3, L.I. Misiura4, I.D. Mazur2, V.E. Dosenko1
- O.O. Bogomoletz Institute of Physiology National Academy
of Science of Ukraine, Kyiv, Ukraine
- State Institution «National scientific center «M.D.Strazhesko Institute of Cardiology» National Аcademy of Medical Sciences of Ukraine, Kyiv, Ukraine
- O.O. Bogomoletz National Medical University, Kyiv, Ukraine
- Children’s Clinical Hospital №6, Kyiv, Ukraine
DOI: https://doi.org/10.15407/fz65.04.012
Abstract
ATP-sensitive potassium channels (KATP-channels) have an
exclusive cardioprotective role in endogenous heart protection
from ischemic damage and regulate vascular tone.
KCNJ11 (Kir6.2) polymorphisms I337V (rs5215) and G23L
(rs5219, E23K), and ABCC8 (SUR1) polymorphisms S1369A
(rs757110) was genotyped in 529 patients with myocardial
infarction, acute and chronic heart failure, in adolescents
with primary hypertension, and as control group in clinically
healthy subjects of Ukraine population by the real-time
polymerase chain reaction (RT-PCR). It was shown that the
frequency of genotypes Glu/Glu, Glu/Lys and Lys/Lys of
polymorphism E23K, and genotypes Ser/Ser, Ser/Ala and
Ala/Ala of polymorphism S1369A was as follows: in 107
patients with myocardial infarction - 40.2, 43.9 and 15.9%; in
96 patients with acute heart failure - 41.7, 42.7 and 15.6%; in
99 patients with chronic heart failure - 43.4, 44.4 and 12.1%;
in 104 adolescents with primary hypertension - 41.4, 46.2
and 12.5% respectively. The distribution of these genotypes
in the control group in 98 clinically healthy people was 37.8,
46.9 and 15.3% respectively. Inheritance of SNPs E23K and
S1369A were linked. The frequency of genotypes Ile/Ile,
Ile/Val and Val/Val of polymorphism I337V was as follows:
in 102 patients with myocardial infarction - 32.4, 51.0 and
16.7%; in 93 patients with acute heart failure - 37,6, 43,0 and
19,4%; in 98 patients with chronic heart failure - 40,8, 44,9 and
14,3%; in 90 clinically healthy people - 35.6, 45.6 and 18.9%
respectively. Incidence of allelic polymorphisms I337V, E23K
and S1369A corresponds to Hardy-Weinberg principle. By
criterion χ2, no significant differences were found between the
groups. Thus, the frequency of allele polymorphisms I337V,
E23K, and S1369A in patients with myocardial infarction,
acute and chronic heart failure, and primary hypertension in
adolescents was determined, and it has been shown that it does
not significantly differ from the frequency in clinically healthy
residents of Ukraine.
Keywords:
allelic polymorphisms; KCNJ11; ABCC8; I337V; E23K; S1369A; KATP channels; myocardial infarction; heart failure; arterial hypertension
References
- Nichols CG. KATP channels as molecular sensors of cellular metabolism. Nature. 2006; 440(7083): 470-476.
CrossRef
PubMed
- Strutynskyi RB. Protective properties of opening ATPsensitive potassium channels. Fiziol Zh. 2019;65(3):. [Ukrainian].
- Olson TM, Terzic A. Human KATP channelopathies: diseases of metabolic homeostasis. Pflugers Arch. 2010 Jul;460(2):295-306.
- Reyes S, Park S, Johnson BD, Terzic A, Olson TM. KATP channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired exercise stress response. Hum Genet. 2009 Dec;126(6):779-89.
CrossRef
PubMed PubMedCentral
- Schwanstecher C, Meyer U, Schwanstecher M. Kir6.2 polymorphism predisposes to type 2 diabetes by inducing overactivity of pancreatic ß-cell ATP-sensitive K+ channels. Diabetes. 2002;51(3):875-879.
CrossRef
PubMed
- Li L, Shi Y, Wang X, Shi W, Jiang C. Single nucleotide polymorphisms in K(ATP) channels: muscular impact on type 2 diabetes. Diabetes. 2005;54:1592-1597.
CrossRef
PubMed
- Riedel MJ, Steckley DC, Light PE. Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes. Hum Genet. 2005;116:133-145.
CrossRef
PubMed
- Riedel MJ, Boora P, Steckley D, de Vries G, Light PE. Kir6.2 polymorphisms sensitize beta-cell ATP-sensitive potassium channels to activation by acyl CoAs: a possible cellular mechanism for increased susceptibility to type 2 diabetes? Diabetes. 2003;52(10):2630-2635.
CrossRef
PubMed
- Bienengraeber M, Olson TM, Selivanov VA, Kathmann EC, O'Cochlain F, Gao F, Karger AB, Ballew JD, Hodgson DM, Zingman LV, Pang YP, Alekseev AE, Terzic A. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet. 2004 Apr;36(4):382-7.
CrossRef
PubMed PubMedCentral
- Olson TM, Alekseev AE, Moreau C, Liu XK, Zingman LV, Miki T, Seino S, Asirvatham SJ, Jahangir A, Terzic A. KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. Nat Clin Pract Cardiovasc Med. 2007 Feb;4(2):110-6.
- Olson TM, Terzic A. Human KATP channelopathies: diseases of metabolic homeostasis. Pflugers Arch. 2010 Jul;460(2):295-306.
CrossRef
PubMed PubMedCentral
- Smith KJ, Chadburn AJ, Adomaviciene A, Minoretti P, Vignali L, Emanuele E, Tammaro P. Coronary spasm and acute myocardial infarction due to a mutation (V734I) in the nucleotide binding domain 1 of ABCC9. Int J Cardiol. 2013; 168(4):3506-13.
CrossRef
PubMed
- Tester DJ, Tan BH, Medeiros-Domingo A, Song C, Makielski JC, Ackerman MJ. Loss-of-function mutations in the KCNJ8-encoded Kir6.1 K(ATP) channel and sudden infant death syndrome. Circ Cardiovasc Genet. 2011 Oct;4(5):510-5.
CrossRef
PubMed PubMedCentral
- Strutynskyi RB, Voronkov LG, Nagibin VS, Mazur ID, Stroy D, Dosenko VE. Changes of the echocardiographic parameters in chronic heart failure patients with Ile337val, Glu23lys, and Ser1369Ala polymorphisms of genes encoding the ATP-sensitive potassium channels subunits in the Ukrainian population. Ann Hum Genet. 2018 Sep;82(5):272-279.
CrossRef
PubMed
- Zhuang L, Zhao Y, Zhao W, Li M, Yu M, Lu M, Zhang R, Ge X, Zheng T, Li C, Yin J, Yin J, Bao Y, Liu L, Jia W, Liu Y. The E23K and A190A variations of the KCNJ11 gene are associated with early-onset type 2 diabetes and blood pressure in the Chinese population. Mol Cell Biochem. 2015 Jun;404(1-2):133-41.
- Mazur I, Voronkov L, Dosenko V, Strutynskyi R, Gorovenko N. Impact of KCNJ11 gene polymorphisms of ATP-sensitive potassium channel on left ventricular end-diastolic volume and mass in chronic systolic heart failure . Europ J Heart Failure. 2016;18 (1):284.
- Bertrand ME, Simoons ML, Fox KA, et al. Management of acute coronary syndromes in patients presenting without persistent ST-segment elevation. The task force on the management of acute coronary syndromes of the European society of cardiology. Eur Heart J. 2002;23:1809-1840.
CrossRef
PubMed
- Braunwald E, Antman EM, Brooks NH, et al. ACC/AHA guidelines for the management of patients with unstable angina and non ST-elevation myocardial infarction: executive summary and recommendations. A report of the american college of cardiology. American Heart Association task force on practice guidelines (committee on management of patients with unstable angina). Circulation. 2000;102:1193-1209.
CrossRef
PubMed
- Strutynskyi RB, Rovenets RA, Svarychevskyi OV, Dosenko VE. Incidence of allelic polymorphisms of genes encoding subunits ATP-sensitive potassium channels (Ile337→Val and Glu23→Lys KCNJ11 gene, and Ser1369→Ala ABCC8 gene) in the ukrainian population. Fiziol Zh. 2017;63(3):3-8. [Ukrainian].
CrossRef
- Tinker A, Aziz Q, Li Y. Specterman MATP-Sensitive Potassium Channels and Their Physiological and Pathophysiological Roles. Compr Physiol. 2018 Sep 14;8(4):1463-1511.
CrossRef
PubMed
- Strutyns'kyĭ RB, Neshcheret OP, Tumanovs'ka LV, Rovenets' RA, Moĭbenko OO. Cardioprotective effects of flokalin in experiments in vivo: influence on hemodynamic and myocardial lesions in ischemia-reperfusion. Fiziol Zh. 2009;55(5):9-16. [Ukrainian].
- Strutyns'kyĭ RB, Kotsiuruba AV, Neshcheret OP, Rovenets' RA, Moĭbenko OO. The changes of metabolism in myocardium at ischemia-reperfusion and activating of the ATP-sensitive potassium channels. Fiziol Zh. 2012;58(1):13-26. [Ukrainian].
- Strutyns'kyĭ RB, Kotsiuruba AV, Rovenets' RA, Strutyns'ka NA, Iagupols'kyĭ IuL, Sagach VF, Moĭbenko OO. Biochemical mechanisms of the cardioprotective effect of the K(ATP) channels opener flocalin (medicinal form) in ischemia-reperfusion of myocardium. Fiziol Zh. 2013;59(4):16-27. [Ukrainian].
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