The effect of Angiotensin-Converting Enzyme gene variants on Heart Failure
Main Article Content
Keywords
Angiotensin-converting enzyme, genetic variations, DD genotype, left ventricular hypertrophy, heart failure
Abstract
Polymorphism in the angiotensin-converting enzyme (ACE) gene has been identified as a potential contributor to the pathophysiology of heart failure (HF). Several studies have demonstrated a link between genetic variations in the ACE gene and an increased risk of HF, even in individuals with otherwise low risk factors. This review aims to examine the effect of the ACE gene Insertion-Deletion (I/D) polymorphism on the development of HF. While the ACE genetic variations do not appear to significantly contribute to the development of hypertension, they may affect the mass of the left ventricles by altering the production of angiotensin II, a potent coronary vasoconstrictor. This is evident in individuals who also have other cardiovascular conditions such as hypertension and cardiomyopathy. From a therapeutic perspective, the connection between the ACE gene and angiotensin II type-1 receptors may have clinical implications for the management and prevention of HF. Screening for genetic risk may be beneficial if drugs such as ACE inhibitors and angiotensin II receptor blockers (ARB) can counteract the effects of the ACE gene and its connection to angiotensin II type-1 receptors. The effects of angiotensin II on HF are complex, as it serves both as a cellular growth modulator and vasoactive agent, thus its impact on HF can be analysed at various stages of the disease. Future studies may confirm genotypic associations and facilitate the classification of patients into groups at risk for developing HF.
References
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2. Lopez-Sublet M, Caratti di Lanzacco L, Danser AHJ, Lambert M, Elourimi G, Persu A. Focus on increased serum angiotensin-converting enzyme level: From granulomatous diseases to genetic mutations. Clin Biochem. 2018;59:1-8.
3. Lifton RP. Molecular genetics of human blood pressure variation. Science. 1996;272(5262):676-80.
4. Fyhrquist F, Eriksson A, Saijonmaa O, Nordestgaard BG, Kontula K, de Faire U, et al. Telomere length is associated with ACE I/D polymorphism in hypertensive patients with left ventricular hypertrophy. Journal of the Renin-Angiotensin-Aldosterone System. 2012;14(3):227-34.
5. Amara A, Mrad M, Sayeh A, Lahideb D, Layouni S, Haggui A, et al. The Effect of ACE I/D Polymorphisms Alone and With Concomitant Risk Factors on Coronary Artery Disease. Clin Appl Thromb Hemost. 2018;24(1):157-63.
6. Chen YH, Liu JM, Hsu RJ, Hu SC, Harn HJ, Chen SP, et al. Angiotensin converting enzyme DD genotype is associated with acute coronary syndrome severity and sudden cardiac death in Taiwan: a case-control emergency room study. BMC Cardiovasc Disord. 2012;12:6.
7. Choudhury I, Jothimalar R, Patra AK. Angiotensin Converting Enzyme Gene Polymorphism and its Association with Hypertension in South Indian Population. Indian J Clin Biochem. 2012;27(3):265-9.
8. Birhan TA, Molla MD, Abdulkadir M, Tesfa KH. Association of angiotensin-converting enzyme gene insertion/deletion polymorphisms with risk of hypertension among the Ethiopian population. PLoS One. 2022;17(11):e0276021.
9. Ajala AR, Almeida SS, Rangel M, Palomino Z, Strufaldi MW, Puccini RF, et al. Association of ACE gene insertion/deletion polymorphism with birth weight, blood pressure levels, and ACE activity in healthy children. Am J Hypertens. 2012;25(7):827-32.
10. Hadian B, Zafarmohtashami A, Chaghervand Z, Nouryazdan N. Angiotensin-converting enzyme gene insertion/deletion polymorphism and hypertension disease. Arch Physiol Biochem. 2022;128(5):1165-9.
11. Oscanoa TJ, Cieza EC, Lizaraso-Soto FA, Guevara ML, Fujita RM, Parodi JF, et al. Lack of association between angiotensin-converting enzyme genotype and muscle strength in Peruvian older people. Adv Gerontol. 2020;33(4):686-90.
12. Harrap SB, Tzourio C, Cambien F, Poirier O, Raoux S, Chalmers J, et al. The ACE gene I/D polymorphism is not associated with the blood pressure and cardiovascular benefits of ACE inhibition. Hypertension. 2003;42(3):297-303.
13. Rana G, Yadav S, Joshi S, Saraswathy KN. Association of DD genotype of angiotensin-converting enzyme gene (I/D) polymorphismwith hypertension among a North Indian population. J Community Genet. 2018;9(1):51-5.
14. Dhar S, Ray S, Dutta A, Sengupta B, Chakrabarti S. Polymorphism of ACE gene as the genetic predisposition of coronary artery disease in Eastern India. Indian Heart J. 2012;64(6):576-81.
15. Al-Serri A, Ismael FG, Al-Bustan SA, Al-Rashdan I. Association of the insertion allele of the common ACE gene polymorphism with type 2 diabetes mellitus among Kuwaiti cardiovascular disease patients. J Renin Angiotensin Aldosterone Syst. 2015;16(4):910-6.
16. Banhegyi V, Enyedi A, Fulop GA, Olah A, Siket IM, Varadi C, et al. Human Tissue Angiotensin Converting Enzyme (ACE) Activity Is Regulated by Genetic Polymorphisms, Posttranslational Modifications, Endogenous Inhibitors and Secretion in the Serum, Lungs and Heart. Cells. 2021;10(7).
17. Yusof HA, Aziz AR, Muhamed AMC. The influence of angiotensin I-converting enzyme (ACE) I/D gene polymorphism on cardiovascular and muscular adaptations following 8 weeks of isometric handgrip training (IHG) in untrained normotensive males. Biol Sport. 2019;36(1):81-94.
18. Zhang Y, Yang T, Zhou W, Huang Y. A meta-analysis on the association of genetic polymorphism of the angiotensin-converting enzyme and coronary artery disease in the chinese population. Rev Assoc Med Bras (1992). 2019;65(6):923-9.
19. Sakhteh M, Poopak B, Amirizadeh N, Shamshiri A, Bagheri A, Faranoush M. Polymorphism and synergism of angiotensin-converting enzyme (ACE) and plasminogen activator inhibitor-1 (PAI-1) genes in coronary artery disease. J Renin Angiotensin Aldosterone Syst. 2015;16(4):1168-74.
20. Abd El-Aziz TA, Hussein YM, Mohamed RH, Shalaby SM. Renin-angiotensin system genes polymorphism in Egyptians with premature coronary artery disease. Gene. 2012;498(2):270-5.
21. Chalghoum A, Noichri Y, Chkioua L, Gammoudi I, Dandana A, Chahed H, et al. [Study of the intronic polymorphism of the angiotensin 1 converting enzyme among coronary Tunisians]. Ann Cardiol Angeiol (Paris). 2011;60(3):135-40.
22. Al-Hazzani A, Daoud MS, Ataya FS, Fouad D, Al-Jafari AA. Renin-angiotensin system gene polymorphisms among Saudi patients with coronary artery disease. J Biol Res (Thessalon). 2014;21(1):8.
23. Zintzaras E, Raman G, Kitsios G, Lau J. Angiotensin-Converting Enzyme Insertion/Deletion Gene Polymorphic Variant as a Marker of Coronary Artery Disease: A Meta-analysis. Archives of Internal Medicine. 2008;168(10):1077-89.
24. Jehpsson L, Sun J, Nilsson PM, Edsfeldt A, Sward P. Serum Renin Levels Increase With Age in Boys Resulting in Higher Renin Levels in Young Men Compared to Young Women, and Soluble Angiotensin-Converting Enzyme 2 Correlates With Renin and Body Mass Index. Front Physiol. 2020;11:622179.
25. Cox R, Bouzekri N, Martin S, Southam L, Hugill A, Golamaully M, et al. Angiotensin-1-converting enzyme (ACE) plasma concentration is influenced by multiple ACE-linked quantitative trait nucleotides. Hum Mol Genet. 2002;11(23):2969-77.
26. Lew RA, Warner FJ, Hanchapola I, Yarski MA, Ramchand J, Burrell LM, et al. Angiotensin-converting enzyme 2 catalytic activity in human plasma is masked by an endogenous inhibitor. Exp Physiol. 2008;93(5):685-93.
27. Schrom E, Huber M, Aneja M, Dohmen C, Emrich D, Geiger J, et al. Translation of Angiotensin-Converting Enzyme 2 upon Liver- and Lung-Targeted Delivery of Optimized Chemically Modified mRNA. Mol Ther Nucleic Acids. 2017;7:350-65.
28. Sayed-Tabatabaei FA, Oostra BA, Isaacs A, van Duijn CM, Witteman JC. ACE polymorphisms. Circ Res. 2006;98(9):1123-33.
29. Coppo M, Boddi M, Bandinelli M, Degl'innocenti D, Ramazzotti M, Marra F, et al. Angiotensin II upregulates renin-angiotensin system in human isolated T lymphocytes. Regul Pept. 2008;151(1-3):1-6.
30. Gintoni I, Adamopoulou M, Yapijakis C. The Impact of ACE and ACE2 Gene Polymorphisms in Pulmonary Diseases Including COVID-19. In Vivo. 2022;36(1):13-29.
31. Liu M, Yi J, Tang W. Association between angiotensin converting enzyme gene polymorphism and essential hypertension: A systematic review and meta-analysis. J Renin Angiotensin Aldosterone Syst. 2021;22(1):1470320321995074.
32. Soubrier F, Alhenc-Gelas F, Hubert C, Allegrini J, John M, Tregear G, et al. Two putative active centers in human angiotensin I-converting enzyme revealed by molecular cloning. Proc Natl Acad Sci U S A. 1988;85(24):9386-90.
33. Martinez E, Puras A, Escribano J, Sanchis C, Carrion L, Artigao M, et al. Angiotensin-converting enzyme (ACE) gene polymorphisms, serum ACE activity and blood pressure in a Spanish-Mediterranean population. J Hum Hypertens. 2000;14(2):131-5.
34. Lindpaintner K, Pfeffer MA, Kreutz R, Stampfer MJ, Grodstein F, LaMotte F, et al. A prospective evaluation of an angiotensin-converting-enzyme gene polymorphism and the risk of ischemic heart disease. N Engl J Med. 1995;332(11):706-11.
35. Merkus D, Haitsma DB, Sorop O, Boomsma F, de Beer VJ, Lamers JM, et al. Coronaryvasoconstrictor influence of angiotensin II is reduced in remodeled myocardium after myocardial infarction. Am J Physiol Heart Circ Physiol. 2006;291(5):H2082-9.
36. Franzen KF, Meusel M, Engel J, Rocker T, Dromann D, Sayk F. Differential Effects of Angiotensin-II Compared to Phenylephrine on Arterial Stiffness and Hemodynamics: A Placebo-Controlled Study in Healthy Humans. Cells. 2021;10(5).
37. Mehta PK, Griendling KK. Angiotensin II cell signaling: physiological and pathological effects in the cardiovascular system. Am J Physiol Cell Physiol. 2007;292(1):C82-97.
38. Witherow FN, Helmy A, Webb DJ, Fox KA, Newby DE. Bradykinin contributes to the vasodilator effects of chronic angiotensin-converting enzyme inhibition in patients with heart failure. Circulation. 2001;104(18):2177-81.
39. Nasution SA. The use of ACE inhibitor in cardiovascular disease. Acta Med Indones. 2006;38(1):60-4.
40. Schunkert H, Hense HW, Holmer SR, Stender M, Perz S, Keil U, et al. Association between a deletion polymorphism of the angiotensin-converting-enzyme gene and left ventricular hypertrophy. N Engl J Med. 1994;330(23):1634-8.
41. Zhang Y, Matkovich SJ, Duan X, Gold JI, Koch WJ, Dorn GW, 2nd. Nuclear effects of G-protein receptor kinase 5 on histone deacetylase 5-regulated gene transcription in heart failure. Circ Heart Fail. 2011;4(5):659-68.
42. Bruck H, Leineweber K, Temme T, Weber M, Heusch G, Philipp T, et al. The Arg389Gly beta1-adrenoceptor polymorphism and catecholamine effects on plasma-renin activity. J Am Coll Cardiol. 2005;46(11):2111-5.
43. Rochais F, Vilardaga JP, Nikolaev VO, Bunemann M, Lohse MJ, Engelhardt S. Real-time optical recording of beta1-adrenergic receptor activation reveals supersensitivity of the Arg389 variant to carvedilol. J Clin Invest. 2007;117(1):229-35.
44. Cappola TP, Matkovich SJ, Wang W, van Booven D, Li M, Wang X, et al. Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation. Proc Natl Acad Sci U S A. 2011;108(6):2456-61.
45. Pogue J, Yusuf S. Data Monitoring in the Randomized Evaluation of Strategies for Left Ventricular Dysfunction Pilot Study: When Reasonable People Disagree. In: DeMets DL, Furberg CD, Friedman LM, editors. Data Monitoring in Clinical Trials: A Case Studies Approach. New York, NY: Springer US; 2006. p. 330-6.
46. Yaqoob I, Tramboo NA, Bhat IA, Pandith A, Beig JR, Hafeez I, et al. Insertion/deletion polymorphism of ACE gene in females with peripartum cardiomyopathy: A case-control study. Indian Heart J. 2018;70(1):66-70.
47. Amrani A, Baba Hamed MB, Mesli Talebbendiab F. Association study between some renin-angiotensin system gene variants and essential hypertension in a sample of Algerian population: case control study. Ann Biol Clin (Paris). 2015;73(5):557-63.
48. Ramachandran V, Ismail P, Stanslas J, Shamsudin N, Moin S, Mohd Jas R. Association of insertion/deletion polymorphism of angiotensin-converting enzyme gene with essential hypertension and type 2 diabetes mellitus in Malaysian subjects. J Renin Angiotensin Aldosterone Syst. 2008;9(4):208-14.
49. Demirel S, Akkaya V, Cine N, Oflaz H, Yekeler E, Ozturk S, et al. Genetic polymorphisms and endothelial dysfunction in patients with essential hypertension: a cross-sectional case-control study. Neth Heart J. 2005;13(4):126-31.
50. Fu Y, Katsuya T, Asai T, Fukuda M, Inamoto N, Iwashima Y, et al. Lack of correlation between Mbo I restriction fragment length polymorphism of renin gene and essential hypertension in Japanese. Hypertens Res. 2001;24(3):295-8.
51. Zhu X, Bouzekri N, Southam L, Cooper RS, Adeyemo A, McKenzie CA, et al. Linkage and association analysis of angiotensin I-converting enzyme (ACE)-gene polymorphisms with ACE concentration and blood pressure. Am J Hum Genet. 2001;68(5):1139-48.
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Jun 20, 2023
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Rawaz D. Tawfeeq, Ava T. Ismael, Mohammed H. Alwan, Badraldin K. Hamad, & Aram Sardar Ibrahim. (2023). The effect of Angiotensin-Converting Enzyme gene variants on Heart Failure. Journal of Population Therapeutics and Clinical Pharmacology, 30(15), 1-10. https://doi.org/10.47750/jptcp.2023.30.15.001
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All articles published in JPTCP are licensed under Copyright Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
Rawaz D. Tawfeeq, Ava T. Ismael, Mohammed H. Alwan, Badraldin K. Hamad, & Aram Sardar Ibrahim. (2023). The effect of Angiotensin-Converting Enzyme gene variants on Heart Failure. Journal of Population Therapeutics and Clinical Pharmacology, 30(15), 1-10. https://doi.org/10.47750/jptcp.2023.30.15.001