ZBTB17 Gene rs10927875 Polymorphism in Slovak Patients with Dilated Cardiomyopathy
Dilated cardiomyopathy (DCM) is a severe cardiovascular disorder characterized by progressive systolic dysfunction due to cardiac chamber dilatation and inefficient myocardial contractility often leading to chronic heart failure. Recently, a genome-wide association studies (GWASs) on DCM indicate that the ZBTB17 gene rs10927875 single nucleotide polymorphism is associated with DCM. The aim of the study was to identify the distribution of ZBTB17 gene rs10927875 polymorphism in 50 Slovak patients with DCM and 80 healthy control subjects using the Custom Taqman®SNP Genotyping assays. Risk factors detected at baseline in each group included age, sex, body mass index, smoking status, diabetes and blood pressure. The mean age of patients with DCM was 52.9±6.3 years; the mean age of individuals in control group was 50.3±8.9 years. The distribution of investigated genotypes of rs10927875 polymorphism within ZBTB17 gene in the cohort of Slovak patients with DCM was as follows: CC (38.8%), CT (55.1%), TT (6.1%), in controls: CC (43.8%), CT (51.2%), TT (5.0%). The risk allele T was more common among the patients with dilated cardiomyopathy than in normal controls (33.7% versus 30.6%). The differences in genotype or allele frequencies of ZBTB17 gene rs10927875 polymorphism were not statistically significant (p=0.6908; p=0.6098). The results of this study suggest that ZBTB17 gene rs10927875 polymorphism may be a risk factor for susceptibility to DCM in Slovak patients with DCM. Studies of numerous files and additional functional investigations are needed to fully understand the roles of genetic associations.
Digital Object Identifier (DOI): doi.org/10.5281/zenodo.1095987Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 1782
 M.K. Baig, J.H. Goldman, A.L. Caforio et al. "Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease". In J Am Coll Cardiol, 1998, 31:195–201.
 L. Dellefave and M.E. McNally "The genetics of dilated cardiomyopathy". In Curr Opin Cardiol, 2010, 25:198–204.
 P. Elliott, B. Andersson, E. Arbustini et al. "Classification of the cardiomyopathies: a position statement from the European society of cardiology working group on myocardial and pericardial diseases". In European Heart Journal, 2008, 29, 270–276.
 S. Herold, M. Wanzel, V. Beuger, C. Frohme, D. Beul, T. Hillukkala, J. Syvaoja, H.P. Saluz, F. Haenel, M. Eilers, ˝Negative regulation of the mammalian UV response by Myc through association with Miz-1", In Mol. Cell., 2002, vol. 10, pp. 509–521.
 B.J. Maron, J.A. Towbin, G. Thiene, C. Antzelevitch, D. Corrado, D. Arnett, A.J. Moss, C.E. Seidman, J.B. Young. "Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; quality of care and outcomes research and functional genomics and translational biology interdisciplinary working groups; and council on epidemiology and prevention. In Circulation, 2006, 113:1807–1816.
 L. Mestroni, C. Rocco, D. Gregori, G. Sinagra, A. DiLenarda, S. Miocic, M. Vatta, B. Pinamonti, F. Muntoni et al. "Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity”. In J Am Coll Cardiol, 1999; 34: 181–190.
 V.V. Michels, T.M. Olson, F.A. Miller, K.V. Ballman, A.G. Rosales et al. ˝Frequency of development of idiopathic dilated cardiomyopathy among relatives of patients with idiopathic dilated cardiomyopathy". In Am. J. Cardiol., 2003, vol. 91, pp. 1389–1392.
 K.J. Osterziel, A. Perrot „Dilated cardiomyopathy: more genes means more phenotypes". In Eur. Heart. J., 2005; vol. 26, pp. 751–4.
 P. Staller, K. Peuker, A. Kiermaier, J. Seoane, J. Lukas, H. Karsunky, T. Möröy, J. Bartek, J. Massagué, F. Hänel, M. Eilers, "Repression of p15INK4b expression by Myc through association with Miz-1". In Nat. Cell. Biol., 2001, vol. 3, pp. 392–399.
 E. Villard, C. Perret, F. Gary, C. Proust, G. Dilanian, C. Hengstenberg, V. Ruppert, E. Arbustini, T. Wichter et al. "A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy". In Eur. Heart. J., 2011, vol. 32, pp. 1065–1076.
 M.J. Vos, B. Kanon, H.H. Kampinga "HSPB7 is a SC35 speckle resident small heat shock protein "In Biochim. Biophys. Acta, 2009, vol. 1793, pp. 1343–1353.