Polimorfisme Gen Angiotensin Converting Enzyme pada Hipertensi
DOI:
https://doi.org/10.54259/sehatrakyat.v5i2.6897Keywords:
Hypertension, ACE Gene Polymorphism, ACE I/D, Genetic Factors, Renin Angiotensin Aldosterone SystemAbstract
Hypertension is a multifactorial disease with a significant contribution to global cardiovascular morbidity and mortality. In addition to environmental factors, genetic aspects are known to play an important role in the pathogenesis of essential hypertension. One of the most extensively studied candidate genes is the angiotensin-converting enzyme (ACE) gene, particularly the insertion/deletion (I/ccD) polymorphism in intron 16. This article aims to systematically review the scientific evidence regarding the association between ACE gene polymorphism and the occurrence of hypertension. A literature search was conducted through various international scientific publications addressing the biological mechanisms of ACE, the distribution of I/D genotypes, and their association with hypertension risk across different populations. The review findings indicate that the deletion (D) allele is associated with increased plasma and tissue ACE activity, leading to elevated production of angiotensin II and enhanced degradation of bradykinin, thereby contributing to vasoconstriction and increased blood pressure. Several observational studies and meta-analyses report that the DD genotype or the presence of the D allele is associated with an increased risk of essential hypertension in various ethnic groups, although inconsistencies in results across populations have been observed. Differences in genetic background, environmental factors, and research methodologies are thought to influence these variations. Overall, ACE gene polymorphism, particularly the I/D variant, plays an important role in the pathophysiology of hypertension and has the potential to serve as a basis for the development of genetic-based predictive and therapeutic approaches in the future.
Downloads
References
Arshad, M. I., & Jamal, S. F. (2022). Essential Hypertension. In StatPearls. https://www.ncbi.nlm.nih.gov/books/NBK539859/
Bakris, G. L., & Sorrentino, M. J. (2018). Hypertension: A Companion to Braunwald’s Heart Disease (3 (ed.)).
Barghash, A., Al-Gharabli, S. I., Jweihan, M., Tanbouz, M., AlBarahmieh, E., Hamad, E., & Tahtamouni, L. H. (2020). Angiotensin Converting Enzyme (ACE) Gene Polymorphism in Jordanian Type-1 and Type-2 Diabetic Patients. Jordan Journal of Biological Sciences, 13(2).
Chandra, V. A., Siregar, Y., & Arina, C. A. (2020). Correlation of ACE Gene Polymorphism and Hypertension in Stroke Ischemic Patients. Sumatran Medical Journal, 3, 41–47.
Drago, J., Williams, G. H., & Lilly, L. S. (2016). Hypertension. In 6 (Ed.), Pathophysiology of Heart Disease (pp. 311–322).
Hall, J. E., do Carmo, J. M., Silva, A. A., Wang, Z., & Hall, M. E. (2015). Obesity-induced hypertension: interaction of neurohumoral and renal mechanisms. Circulation Research, 116(6), 991–1006.
Hubert, C., Houot, A. M., Corvol, P., & Soubrier, F. (1991). Structure of the angiotensin I-converting enzyme gene. Two alternate promoters correspond to evolutionary steps of a duplicated gene. Journal of Biological Chemistry, 266, 15377–15383.
Indonesia, K. K. R. (2018). Riset Kesehatan Dasar 2018. Badan Penelitian dan Pengembangan Kesehatan.
Karki, R., Pandya, D., Elston, R. C., & Ferlini, C. (2015). Defining mutation and polymorphism in the era of personal genomics. BMC Medical Genomics, 8, 37.
Kementrian Kesehatan Republik Indonesia. (2020). Profil-Kesehatan-Indonesia-2019. Katalog Dalam Terbitan. Kementerian Kesehatan RI, 1–486.
Krishnan, R., Sekar, D., Karunanithy, S., & Subramanium, S. (2016). Association of angiotensin converting enzyme gene insertion/deletion polymorphism with essential hypertension in south Indian population. Genes & Diseases, 3, 159–163.
Li, C., Sun, D., Liu, J., Li, M., Zhang, B., & Liu, Y. (2019). A prediction model of essential hypertension based on genetic and environmental risk factors in northern Han Chinese. International Journal of Medical Sciences, 16(6), 793–799.
Liu, M., Yi, J., & Tang, W. (2021). Association between angiotensin converting enzyme gene polymorphism and essential hypertension: A systematic review and meta-analysis. Journal of Renin-Angiotensin-Aldosterone System, 22, 147032032199507.
Lukito, A. A., Harmeiwaty, E., Situmorang, T. D., Hustrini, N. M., Kuncoro, A. S., Barack, R., & Yulianti, E. D. (2021). Konsensus Penatalaksanaan Hipertensi 2021: Update Konsensus PERHI 2019. Perhimpunan Dokter Hipertensi Indonesia.
Mancia, G., Rosei, E. A., Azizi, M., Burnier, M., Clement, D. L., & Coca, A. (2018). 2018 ESC/ESH Guidelines for the management of arterial hypertension. European Heart Journal.
Mengesha, H. G., Petrucka, P., Spence, C., & Tafesse, T. B. (2019). Effects of angiotensin converting enzyme gene polymorphism on hypertension in Africa: A meta-analysis and systematic review. PLoS ONE, 14, e0211054.
Pathak, I., & Bordoni, B. (2023). Genetics, Chromosomes. In StatPearls. https://www.ncbi.nlm.nih.gov/books/NBK557784/
Rahimi, Z. (2012). ACE insertion/deletion (I/D) polymorphism and diabetic nephropathy. Journal of Nephropathology, 1, 143–151.
Riordan, J. F. (2003). Angiotensin-I-converting enzyme and its relatives. Genome Biology.
Sabir, J. S., Omri, A. E., Khan, I. A., Banaganapalli, B., Hajrah, N. H., & Zrelli, H. (2019). ACE insertion/deletion genetic polymorphism, serum ACE levels and high dietary salt intake influence the risk of obesity development among the Saudi adult population. Journal of Renin-Angiotensin-Aldosterone System, 20, 147032031987094.
Santos, P. C. J. L., Krieger, J. E., & Pereira, A. C. (2012). Renin–Angiotensin System, Hypertension, and Chronic Kidney Disease: Pharmacogenetic Implications. Journal of Pharmacological Sciences, 120, 77–88.
Sayed-Tabatabaei, F. A., Oostra, B. A., Isaacs, A., van Duijn, C. M., & Witteman, J. C. M. (2006). ACE Polymorphisms. Circulation Research, 98, 1123–1133.
Tortora, G. J., & Derrickson, B. (2017). Principles of Anatomy & Physiology (15 (ed.)). Wiley.
Unger, T., Borghi, C., Charchar, F., Khan, N. A., Poulter, N. R., & Prabhakaran, D. (2020). 2020 International Society of Hypertension Global Hypertension Practice Guidelines. Hypertension.
Wang, L., Zheng, B., Zhao, H., Du, P., & Sun, A. (2014). α-Adducin gene G614T polymorphisms in essential hypertension patients with high low density lipoprotein (LDL) levels. Indian Journal of Medical Research, 139(2), 273–278.
Yannoutsos, A., Levy, B. I., Safar, M. E., Slama, G., & Blacher, J. (2014). Pathophysiology of hypertension: interactions between macro- and microvascular alterations through endothelial dysfunction. Journal of Hypertension, 32(2), 26–34.
Zhang, X., Wang, Y., Zheng, Y., Yuan, J., Tong, J., & Xu, J. (2022). Effect of ACE, ACE2 and CYP11B2 gene polymorphisms and noise on essential hypertension among steelworkers in China: a case–control study. BMC Medical Genomics, 15, 22.
Zuraw, B. (2001). Bradykinin in protection against left ventricular hypertrophy. The Lancet, 358, 1116–1118.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2026 Atika Indah Sari
This work is licensed under a Creative Commons Attribution 4.0 International License.
Hak cipta pada setiap artikel adalah milik penulis.
Penulis mengakui bahwa SEHATRAKYAT (Jurnal Kesehatan Masyarakat) sebagai publisher yang mempublikasikan pertama kali dengan lisensi Creative Commons Attribution 4.0 International License.
Penulis dapat memasukan tulisan secara terpisah, mengatur distribusi non-ekskulif dari naskah yang telah terbit di jurnal ini kedalam versi yang lain, seperti: dikirim ke respository institusi penulis, publikasi kedalam buku, dan lain-lain. Dengan mengakui bahwa naskah telah terbit pertama kali pada SEHATRAKYAT (Jurnal Kesehatan Masyarakat).
