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ISSN 2522-9028 (Print)
ISSN 2522-9036 (Online)
DOI: https://doi.org/10.15407/fz

Fiziologichnyi Zhurnal

is a scientific journal issued by the

Bogomoletz Institute of Physiology
National Academy of Sciences of Ukraine

Editor-in-chief: V.F. Sagach

The journal was founded in 1955 as
1955 – 1977 "Fiziolohichnyi zhurnal" (ISSN 0015 – 3311)
1978 – 1993 "Fiziologicheskii zhurnal" (ISSN 0201 – 8489)
1994 – 2016 "Fiziolohichnyi zhurnal" (ISSN 0201 – 8489)
2017 – "Fiziolohichnyi zhurnal" (ISSN 2522-9028)

Fiziol. Zh. 2017; 63(3): 3-8

INCIDENCE OF ALLELIC POLYMORPHISMS OF GENES ENCODING SUBUNITS ATPSENSITIVE POTASSIUM CHANNELS (ILE337→VAL AND GLU23→LYS KCNJ11 GENE, AND SER1369→ALA ABCC8 GENE) IN THE UKRAINIAN POPULATION

R.B. Strutynskyi, R.A. Rovenets , О.V. Svarychevskyi, V.E. Dosenko

    O.O. Bogomoletz Institute of Physiology National Academy of Science of Ukraine, Kyiv.
DOI: https://doi.org/10.15407/fz63.03.003


Abstract

Polymorphisms of genes encoding ATP-sensitive potassium channels as risk factors for cardiovascular disease attracted the attention of researchers recently. KCNJ11 (Kir6.2) polymorphisms Ile337→Val and Glu23→Lys, and ABCC8 (SUR1) polymorphisms Ser1369→Ala was genotyped 529 volunteers in Ukrainian population by polymerase chain reaction (RTPCR) and restriction fragment length polymorphism analysis. Ile337→Val polymorphism has the next genotype distribution among 383 Ukrainian habitants: Ile/Ile in 140 persons (36.6 %), Ile/Val in 177 persons (46.2 %) and Val/Val in 66 persons (17.2 %). The frequency of genotypes Glu/Glu, Glu/Lys and Lys/Lys of polymorphism Glu23→Lys, and Ser/Ser, Ser/Ala and Ala/Ala of polymorphism Ser1369→Ala in 504 persons was 40.9 (206 subjects), 44.8 (226 subjects) and 14.3% (72 subjects) correspondingly. Inheritance of SNPs Glu23→Lys and Ser1369→Ala were linked. Thus, distribution of SNPs Ser1369→Ala and Glu23→Lys showed that it is similar to the European and close to Asian populations. The frequency of homozygote allele Ile/Ile and heterozygote allele Ile/Val of polymorphism Ile337→Val in Ukrainian population is intermediate between residents of the two aforementioned populations. However, in Ukrainian population there is a slight increase genotype Val/Val.

Keywords: allelic polymorphisms; KCNJ11; ABCC8; Ile337→Val; Glu23→Lys; Ser1369→Ala; KATP-channels

Full text: (PDF, in Ukrainian)

References

  1. Moybenko OO, Strutynskyi RB, Yagupolskii LM, Mohort MA, Shalamai AS. Organization of industrial production of Flokalin - new myotropic spasmolytic and cardioprotector. Nauka i innovacii (Science and Innovation). 2009; 5(1):80–4. [Ukrainian].
    2.  
  2. Grover GJ, Garlid KD. ATP-sensitive potassium channels: a review of their cardioprotective pharmacology. J Mol Cell Cardiol. 2000; 32:677–95. CrossRef PubMed
    3.  
  3. 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]. PubMed
    4.  
  4. McCully JD, Levitsky S. Mitochondrial ATP-sensitive potassium channels in surgical cardioprotection. Arch Biochem Biophys. 2003; 420:237–45. CrossRef  
  5. Suryapranata H. Coronary haemodynamics and vasodilatory profile of a potassium channel opener in patients with coronary artery disease. Eur Heart J. 1993; 14:16–21. CrossRef PubMed
    6.  
  6. Dick GM, Tune JD. Role of potassium channels in coronary vasodilation. Exp Biol Med (Maywood). 2010; 235(1):10–22. CrossRef PubMed
    7.  
  7. 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
    8.  
  8. Strutyns'kyĭ RB, Pyvovar SM, Tumanovs'ka LV, Moĭbenko OO. Cardioprotective effects of flokalin: relative role of activation of sarcolemmal and mitochondrial adenosine triphosphate-dependent potassium channels. Fiziol Zh. 2008; 54(6):15–23. [Ukrainian]. PubMed
    9.  
  9. Haïssaguerre M, Chatel S, Sacher F, Weerasooriya R, Probst V, Loussouarn G, Horlitz M, Liersch R, Schulze- Bahr E, Wilde A, Kääb S, Koster J, Rudy Y, Le Marec H, Schott JJ. Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/ KATP channel. J Cardiovasc Electrophysiol. 2009 Jan; 20(1):93–8. CrossRef PubMed
    10.  
  10. 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]. PubMed
    11.  
  11. Das B, Sarkar C. Mitochondrial KATP channel activation is important in the antiarrhythmic and cardioprotective effects of non-hypotensive doses of nicorandil and cromakalim during ischemia/reperfusion: a study in an intact anesthetized rabbit model. Pharmacol Res. 2003; 47: 447–61. CrossRef  
  12. Xi HL, Liu JF, Li L, Wan J. Relationship between dilated cardiomyopathy and the E23K and I337V polymorphisms in the Kir6.2 subunit of the KATP channel. Genet Mol Res. 2013 Oct 10;12(4):4383–92. CrossRef PubMed
    13.  
  13. Yamada S, Kane GC, Behfar A, Liu XK, Dyer RB, Faustino RS, Miki T, Seino S, Terzic A. Protection conferred by myocardial ATP-sensitive K+ channels in pressure overload-induced congestive heart failure revealed in KCNJ11 Kir6.2-null mutant. J Physiol. 2006 Dec 15;577(Pt 3):1053–65. CrossRef PubMed PubMedCentral
    14.  
  14. 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
    15.  
  15. Riedel MJ, Steckley DC, Light PE. Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes. Hum Genet. 2005 Feb;116(3):133–45. CrossRef PubMed
    16.  
  16. 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 Mar;51(3):875–9. CrossRef PubMed
    17.  
  17. Medeiros-Domingo A, Tan BH, Crotti L, Tester DJ, Eckhardt L, Cuoretti A, Kroboth SL, Song C, Zhou Q, Kopp D, Schwartz PJ, Makielski JC, Ackerman MJ. Gain-offunction mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for Jwave syndromes. Heart Rhythm. 2010 Oct;7(10):1466–71. CrossRef PubMed PubMedCentral
    18.  
  18. 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
    19.  
  19. 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. CrossRef PubMed PubMedCentral
    20.  
  20. Olson TM, Terzic A. Human KATP channelopathies: diseases of metabolic homeostasis. Pflugers Arch. 2010 Jul;460(2):295–306. CrossRef PubMed PubMedCentral
    21.  
  21. 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
    22.  
  22. Reyes S, Terzic A, Mahoney DW, Redfield MM, Rodeheffer RJ, Olson TM. K(ATP) channel polymorphism is associated with left ventricular size in hypertensive individuals: a large-scale community-based study. Hum Genet. 2008 Jul;123(6):665–7. CrossRef PubMed PubMedCentral
    23.  
  23. 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 Oct; 52(10):2630–2635. CrossRef PubMed
    24.  
  24. NCBI, Reference SNP (refSNP) Cluster Report_rs5219.
    25.  
  25. NCBI, Reference SNP (refSNP) Cluster Report_rs5215.
    26.  
  26. Chutkow WA, Simon MC, Le Beau MM, Burant CF. Cloning, tissue expression, and chromosomal localization of SUR2, the putative drug-binding subunit of cardiac, skeletal muscle, and vascular KATP channels. Diabetes. 1996 Oct;45(10):1439–45. CrossRef PubMed
    27.  
  27. Qin LJ, Lv Y, Huang QY. Meta-analysis of association of common variants in the KCNJ11-ABCC8 region with type 2 diabetes. Genet Mol Res. 2013 Aug 20;12(3):2990–3002. CrossRef PubMed
    28.  
  28. NCBI, Reference SNP (refSNP) Cluster Report_rs757110.
    29.  

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