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Role of polymorphic variants of angiotensin-converting gene (ACE) in heart failure development

https://doi.org/10.1234/XXXX-XXXX-2016-6-11-18

Abstract

Chronic heart failure (CHF) is one of the high-end causes of populations disability and mortality. Considering the fundamental role of neurohormonal systems in CHF development, the current approach is the study of genes, what expression products take part in formation of different types for myocardial remodeling and CHF progression. Three polymorphic loci in ACE gene- rs4343 (2350 G>А) , rs4291 (240A>T), rs4340 (I/D) in 271 patient of CHF (functional class II-IV) with different types of the left ventricle (LV) remodeling and 194 conditionally healthy men and women of corresponding age, also their haplotypes were studied. Homozygous genotypes *G*G locus rs4343 and *D*D locus rs4340 , also haplotype, based on these two loci, *DG gene ACE , are significant for CHF developing and remodeling LV, considering different types. By revising haplotypes for all three polymorphic loci of ACE gene (rs4291 , rs4340 and rs4343 ), the predominance of haplotype *TDG was statistically significant for patients with marked hypertrophy LV and moderate hypertrophy LV.

About the Authors

A. E. Pushkareva
Bachkir State Medical University; Institute of Biochemistry and Genetics of Ufa Sciense Centre RAS
Russian Federation


R. I. Khusainova
Institute of Biochemistry and Genetics of Ufa Sciense Centre RAS
Russian Federation


R. R. Valiev
Institute of Biochemistry and Genetics of Ufa Sciense Centre RAS
Russian Federation


G. P. Arutyunov
Pirogov Russian National Research Medical University
Russian Federation


E. K. Khusnutdinova
Institute of Biochemistry and Genetics of Ufa Sciense Centre RAS
Russian Federation


References

1. Greenberg B. An ACE in the hole: Alternative Pathways of the Renin Angiotensin System and Their Potential Role in Cardiac Remodeling // J. Am. Coll. Cardiol. - 2008. - Vol. 52. - P. 755-757.

2. Der Sarkissan S., Huentelman M.J., Sterwart J., Katovich M.J., Raizada M.K. ACE2: A novel therapeutic target for cardiovascular diseases // Prog. Biophys. Mol. Biol. - 2006. - May-Jun. - Vol. 91(1-2). - P. 163-198.

3. Wang Yazhu, Li Ying, Fan Jinqi et al. Association study of the angiotensin-converting enzyme (ACE) gene rs4340 and rs4343 polymorphism with atrial fibrillation // Heart. - 2011. - Vol. 97. - A57 doi:10.1136/heartjnl-2011-300867.168.

4. Liza U Ljungberg, Carl Johan Ostgren, Fredrik H Nystrom et al. Associations of genetic polymorphisms in the renin-angiotensin system with central aortic and ambulatory blood pressure in type 2 diabetic patients. Journal of Renin-Angiotensin-Aldosteron System published online 28 January 2013. http://jra.sagepub.com/content/early/2013/ 01/28/1470320312474052

5. Rudnicki M., Mayer G. Significance of genetic polymorphisms of the renin-angiotensin-aldosterone system in cardiovascular and renal disease // Pharmacogenomics. - 2009. - 10. - P. 463-476.

6. Fatini Cinzia MD, PhD; Sticchi, Elena BS, Marcucci, Rossalla MD, PhD et al. ACE Insertion/Deletion, but not -240A>T polymorphism, modulate the severity in heart failure // Journal of Investigative Medicine. - 2008. - December. - Vol. 56. - Issue 8. - P. 1004-1010.

7. Marcin Zakrzewski-Jakubiak, Simon de Denus, Marie-Pierre Dube et al. Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Cacausian patients with heart failure // Br. J. Clin. Pharmacol. - 2008. - 65:5. - P. 742-751.

8. En-Zhi Jia, Zhen-Xia Xu, Chang-Yan Guo et al. Renin-angiotensin-aldosterone polymorphisms and coronary artery disease: detection of gene-gene and gene-environment interactions // Cell Physiology and Biochemistry. - 2012. - Vol. 29. - P. 443-452.

9. QIU Chunguang, HAN Zhanying, LU Wenjie, ZHANG Cuntai. Association of polymorphisms in angiotensin-converting enzyme and type1 angiotensinII receptor genes with coronary heart disease and severity of coronary artery stenosis // Journal of Huazhong University and Techology. - 2007. - Vol. 27(6). - P. 660-663.

10. Frank G.A. De Bakker, Peter Groenewegen, Frank Den Hond. A Bibliometric Analysis of 30 Years of Research and Theory on Corporate Social Responsibility and Corporate Social Performance // Business & Society. - 2005. - Vol. 44(3). - P. 283-317.

11. Crawford D.C., Akey D.T., Nickersson D.A. The patterns of natural variation in human genes // Annu Rev Genomics Hum Genet. - 2005. - 6. - P. 287-312.

12. Bin Zhang and Steve Horvath. Statistical applications in genetics and molecular biology. Volume 4, Issue 1. 2005. Article 17. Department of Human Genetics and Biostatistcs, University of California at Los Angeles.

13. Slatkin M. Linkage disequilibrium- understanding the evolutionary past and mapping the medical future // Nat. Rev. Genet. - 2008. - Jun. - 9(6). - P. 477-485.

14. Levenstein M.A., Ott J., Gordon D. Are molecular haplotypes worth the time and expense? A cost-effective method for applying molecular haplotypes // PLoS Genet. - 2006. - 2.

15. Мареев В.Ю., Агеев Ф.Т., Арутюнов Г.П. и др. Национальные рекомендации ВНОК и ОССН по диагностике и лечению ХСН (III пересмотр) // Сердечная недостаточность. - 2010. - №1(57).

16. Функциональная диагностика в кардиологии: клиническая интерпретация: Учебное пособие / Под ред. Васюка Ю.А. - М.: Практическая медицина, 2009. - 312 с.

17. Hsieh Y.Y., Chang C.C., Tsai F.J., Hsu C.M., Lin C.C., Tsai C.H. Angiotensin I-converting enzyme ACE2350*G and ACE-240*T-related genotypes and alleles are associated with higher susceptibility to endometriosis // Mol. Hum. Reprod. - 2005. - Jan;(1). - P. 11-14.

18. Iwai N., Ohmichi N., Nakamura Y., Kinoshita M. DD genotype of the angiotensin-converting enzyme gene is a risk factor for left ventricular hypertrophy // Circulation. - 1994. - Dec. - Vol. 90(6). - P. 2622-2628.

19. Barrett J.C., Fry B., Maller J., Daly M.J. Haploview: analysis and visualization of LD and haplotype maps // Bioinformatics. - 2005. - 21(2). - P. 263-265.

20. McNamara D.M. Pharmocogenetics in Heart Failure: Genomic markers of endothelial and neurohumoral function // Congestive Heart Failure. - 2004. - 10. - P. 302-308.

21. Marzia Rigolli, Mariantonietta Cicoira, Corinna Bergamini et al. Progression of left ventricular dysfunction and remodelling under optimal medical therapy in CHF patients: role of individual genetic background // Cardiology Research and Practice. - 2011. - Vol. 2011; Article ID 798658

22. Haixin Lei, Ian N.M. Day, Igor Vorechovsky. Exonization of AluYa5 in human ACE gene requires mutations in both 3/ and 5/ splice sites and it facilitated by a conserved splicing enhancer // Nucleic Acids Res. - 2005. - Vol. 33(12). - P. 3897-3906.

23. Воевода М.И., Степанов В.А., Ромащенко А.Т., Максимов В.Н. Этногенетические особенности подверженности атеросклерозу в этнических группах Сибири на примере аполипопротеина Е // Бюллетень СО РАМН. - 2006. - №2(120). - С. 63-72.

24. Ana I Freitas, Isabel Mendonca, Maria Brion et al. RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in Portuguese population // BMC Cardiovascular Disordes. - 2008. - 8. - 15.

25. Nancy Martinez-Rodriquez, Carios Posadas-Romero, Teresa Villarreal-Molina et al. Single Nucleotide Polymorphisms of the angiotensin-converting enzyme (ACE) gene are associated with essential hypertension and increased ACE enzyme levels in Mexican individuals // PloS One. - 2013. - 8(5). - e65700.

26. Paolo Catarsi, Roberto Ravazzolo, Francesco Emma et al. Angiotensin-converting enzyme (ACE) haplotypes and cydosporine A(CsA) response: a model of the complex relationship between ACE quantitave trait locus and pathological phenotypes // Hum. Mol. Genet. 2005. - Aug 7. - Vol. 14(16). - P. 2357-2367.


Review

For citations:


Pushkareva A.E., Khusainova R.I., Valiev R.R., Arutyunov G.P., Khusnutdinova E.K. Role of polymorphic variants of angiotensin-converting gene (ACE) in heart failure development. Medical Genetics. 2016;15(6):11-18. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-6-11-18

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