IDENTIFIKASI VARIAN GENETIK TERKAIT KEJADIAN INFARK MIOKARD MELALUI PENDEKATAN BIOINFORMATIK

Rafiastiana Capritasari, Muhammad Irham, Fara Azzahra, Davit Nugraha, Anna Lesmanasari Yusuf, Febriana Astuti, Zulkifli Zulkifli, Anggoro Wicaksono, Andhika Nor Hendryawan, Tiyas Putri Nurgraheni, Kusmini Kusmini, Ilham Alifiar, Dona Suzana

Abstract


Faktor risiko terjadinya penyakit kardiovaskuler selain faktor risiko konvensional (perokok, hipertensi, dislipidemia, diabetes militus dan obesitas) terdapat juga faktor genetik serta faktor risiko non-konvensional seperti kecemasan, stres dan depresi. Tujuan dari penelitian ini yaitu mengidentifikasi variasi genetik yang terkait dengan patogenesis infark miokard pada berbagai populasi dengan menggunakan basis data genom dan pendekatan bioinformatika. Hasil terdapat tiga varian genetik  yaitu gen APOE, ZC3HC1 dan ALDH2  yang memiliki potensi kerusakan terhadap protein DNA sehingga dapat menyebabkan kejadian infark miokard. SNP dengan kode rs7412, rs11556924 dan rs671 merupakan SNP yang paling kuat dikaitkan dengan kejadian infark miokard sehingga dapat direkomendasikan sebagai risiko genetik.


Keywords


Faktor Genetik,Infark Miokard, Single-Nucleotide Polymorphism, Varian Genetik

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References


Amit V. Khera, M.D, Connor A. Emdin, I sabel Drake, Pradeep Natarajan Alexander G. Bick, Nancy R. Cook, D. I. C., Usman Baber, M.D, Roxana Mehran, Daniel J. Rader, V. F., Eric Boerwinkle, Olle Melander, Marju Orho-Melander, P., & M Ridker, S. K. (2016). Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. Physiology & Behavior, 176(12), 139–148. https://doi.org/10.1056/NEJMoa1605086.Genetic

Dayem Ullah, A. Z., Oscanoa, J., Wang, J., Nagano, A., Lemoine, N. R., & Chelala, C. (2018). SNPnexus: Assessing the functional relevance of genetic variation to facilitate the promise of precision medicine. Nucleic Acids Research, 46(W1), W109–W113. https://doi.org/10.1093/nar/gky399

Fadista, J., Manning, A. K., Florez, J. C., & Groop, L. (2016). The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants. European Journal of Human Genetics, 24(8), 1202–1205. https://doi.org/10.1038/ejhg.2015.269

Ibanez, B., James, S., Agewall, S., Antunes, M. J., Bucciarelli-Ducci, C., Bueno, H., Caforio, A. L. P., Crea, F., Goudevenos, J. A., Halvorsen, S., Hindricks, G., Kastrati, A., Lenzen, M. J., Prescott, E., Roffi, M., Valgimigli, M., Varenhorst, C., Vranckx, P., Widimský, P., … Gale, C. P. (2018). Guidelines for the management of acute myocardial infarction in patients presenting with ST-segment elevation. European Heart Journal, 39(2), 119–177. https://doi.org/10.1093/eurheartj/ehx393

Istifara, A., Tualeka, A. R., & Sillehu, S. (2023). Literature Review: Pengaruh Enzim ALDH2 dalam Detoksifikasi Alkohol terhadap Sirosis Hati. Media Gizi Kesmas, 12(2), 1125–1132. https://doi.org/10.20473/mgk.v12i2.2023.1125-1132

Jones, P. D., Kaiser, M. A., Najafabadi, M. G., McVey, D. G., Beveridge, A. J., Schofield, C. L., Samani, N. J., & Webb, T. R. (2016). The coronary artery disease-associated coding variant in zinc finger C3HC-type containing 1 (ZC3HC1) affects cell cycle regulation. Journal of Biological Chemistry, 291(31), 16318–16327. https://doi.org/10.1074/jbc.M116.734020

Lumsden, A. L., Mulugeta, A., Zhou, A., & Hyppönen, E. (2020). Apolipoprotein E (APOE) genotype-associated disease risks: a phenome-wide, registry-based, case-control study utilising the UK Biobank. EBioMedicine, 59. https://doi.org/10.1016/j.ebiom.2020.102954

Ma, H., He, Y., Bai, M., Zhu, L., He, X., Wang, L., & Jin, T. (2019). The genetic polymorphisms of ZC3HC1 and SMARCA4 are associated with hypertension risk. Molecular Genetics and Genomic Medicine, 7(11), 1–7. https://doi.org/10.1002/mgg3.942

Martinelli, N., Girelli, D., Lunghi, B., Pinotti, M., Marchetti, G., Malerba, G., Pignatti, P. F., Corrocher, R., Olivieri, O., & Bernardi, F. (2010). Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile. Blood, 116(25), 5688–5697. https://doi.org/10.1182/blood-2010-03-277079

Semaev, S., Shakhtshneider, E., Shcherbakova, L., Orlov, P., Ivanoshchuk, D., Malyutina, S., Gafarov, V., Voevoda, M., & Ragino, Y. (2023). Association of Common Variants of APOE, CETP, and the 9p21.3 Chromosomal Region with the Risk of Myocardial Infarction: A Prospective Study. International Journal of Molecular Sciences, 24(13). https://doi.org/10.3390/ijms241310908

Shao, A., Shi, J., Liang, Z., Pan, L., Zhu, W., Liu, S., Xu, J., Guo, Y., Cheng, Y., & Qiao, Y. (2022). Meta-analysis of the association between Apolipoprotein E polymorphism and risks of myocardial infarction. BMC Cardiovascular Disorders, 22(1), 1–12. https://doi.org/10.1186/s12872-022-02566-0

Soldner, F., Laganière, J., Cheng, A. W., Hockemeyer, D., Gao, Q., Alagappan, R., Khurana, V., Golbe, L. I., Myers, R. H., Lindquist, S., Zhang, L., Guschin, D., Fong, L. K., Vu, B. J., Meng, X., Urnov, F. D., Rebar, E. J., Gregory, P. D., Zhang, H. S., & Jaenisch, R. (2011). Generation of isogenic pluripotent stem cells differing exclusively at two early onset parkinson point mutations. Cell, 146(2), 318–331. https://doi.org/10.1016/j.cell.2011.06.019

Tada, H., Melander, O., Louie, J. Z., Catanese, J. J., Rowland, C. M., Devlin, J. J., Kathiresan, S., & Shiffman, D. (2016). Risk prediction by genetic risk scores for coronary heart disease is independent of self-reported family history. European Heart Journal, 37(6), 561–567. https://doi.org/10.1093/eurheartj/ehv462

Yu, C., Guo, Y., Bian, Z., Yang, L., Millwood, I. Y., Walters, R. G., Chen, Y., Chen, Y., Zhang, X., Lei, Y., Chen, J., Chen, Z., Lv, J., & Li, L. (2018). Association of low-activity ALDH2 and alcohol consumption with risk of esophageal cancer in Chinese adults: A population-based cohort study. International Journal of Cancer, 143(7), 1652–1661. https://doi.org/10.1002/ijc.31566

Yudhani, R. D., Pakha, D. N., Suyatmi, S., & Irham, L. M. (2023). Identifying pathogenic variants related to systemic lupus erythematosus by integrating genomic databases and a bioinformatic approach. Genomics and Informatics, 21(3), 1–11. https://doi.org/10.5808/gi.23002




DOI: http://dx.doi.org/10.36465/jkbth.v23i1.1307

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