Overview of MYH9 Gene Polymorphism SNP RS3752462 in Chronic Kidney Disease (CKD) Patients with Diabetic Nephropathy
DOI:
10.29303/jbt.v26i2.11712Published:
2026-05-02Downloads
Abstract
Diabetic nephropathy is a major cause of chronic kidney disease and is influenced by both environmental and genetic factors. One of the genes implicated in the pathogenesis of diabetic nephropathy is MYH9, particularly the Single Nucleotide Polymorphism (SNP) rs3752462. This study aimed to describe the polymorphism of the MYH9 gene SNP rs3752462 in patients with chronic kidney disease associated with diabetic nephropathy. A descriptive study design was applied, involving five patients who met the inclusion criteria. Blood samples were analyzed using the Polymerase Chain Reaction–Restriction Fragment Length Polymorphism (PCR-RFLP) method with the RsaI restriction enzyme. The Results showed that the DNA band patterns observed in all samples did not form consistent combinations and did not correspond to the expected genotype classification standards. In addition, extra bands outside the target fragment sizes and variations in band intensity among samples were observed. Based on these findings, the resulting band patterns could not be reliably used to accurately determine genotypes, and therefore did not adequately represent the polymorphism of the MYH9 gene SNP rs3752462 in the studied samples. Accordingly, further optimization of the PCR-RFLP method is required, along with validation using more accurate approaches, such as DNA sequencing, and a larger sample size to obtain more reliable results.
Keywords:
Chronic kidney disease Diabetic nephropathy MYH9 PCR-RFLP SNP rs3752462References
Alicic, R. Z., Rooney, M. T., & Tuttle, K. R. (2020). Diabetic kidney disease: Challenges, progress, and possibilities. Clinical Journal of the American Society of Nephrology, 15(1), 121–132.
https://doi.org/10.2215/CJN.11491119
Alqaysi, S. A., Juda, T. M., Mohammed, S. B., Ali, Z. A., & Behayaa, H. R. (2020). Genetics risk factors and progression of renal failure. Indian Journal of Forensic Medicine & Toxicology, 14(2), 1949–1955. https://doi.org/10.37506/ijfmt.v14i2.3223
Colares, V. S., Titan, S. M. O., Pereira, A. C., Malafronte, P., Cardena, M. M., Santos, S., … Woronik, V. (2014). MYH9 and APOL1 gene polymorphisms and the risk of CKD in patients with lupus nephritis from an admixture population. PLoS ONE, 9(3), e87716. https://doi.org/10.1371/journal.pone.0087716
Cooke, J. N., Bostrom, M. A., Hicks, P. J., Ng, M. C. Y., Hellwege, J. N., Comeau, M. E., Divers, J., Langefeld, C. D., Freedman, B. I., & Bowden, D. W. (2012). Polymorphisms in MYH9 are associated with diabetic nephropathy in European Americans. Nephrology Dialysis Transplantation, 27(4), 1505–1511. https://doi.org/10.1093/ndt/gfr522
Farhanah, A., Ashar, J. R., Hamzah, P., & Aggun, I. (2021). Optimization of The DNA Isolation and Purification Using CTAB Buffer (Cetyl Trimethyl Ammonium Bromide) In Passion Fruit Plants (Passiflora sp.) On Lowland of Jeneponto District. 17, 31–39. Jurnal Agroteknologi, 17(1), 31–39. https://doi.org/10.52625/j-agr.v17i1.191
Freedman, B. I., Kopp, J. B., Winkler, C. A., Nelson, G. W., Rao, D. C., Eckfeldt, J. H., Leppert, M. F., Hicks, P. J., Divers, J., Langefeld, C. D., & Hunt, S. C. (2009). Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with albuminuria in hypertensive African Americans: The HyperGEN study. American Journal of Nephrology, 29(6), 626–632. https://doi.org/10.1159/000194791
Gaal, S. van, Scholte, H. S., Lamme, V. A. F., Fahrenfort, J. J., & Ridderinkhof, K. R. (2009). Pre-supplementary motor area involvement in inhibitory control: A transcranial magnetic stimulation study. Journal of Cognitive Neuroscience, 21(5), 1020–1031. https://doi.org/10.1162/jocn.2009.21070
Gonzalez, R. M., Vallera, A. C., Calzetta, M., Pichler, V., Love, R. R., Guelbeogo, M. W., … Besansky, N. J. (2021). A PCR-RFLP method for genotyping of inversion 2Rc in Anopheles coluzzii. Parasites & Vectors, 14, 1–10. https://doi.org/10.1186/s13071-021-04657-x
Green, M. R., & Sambrook, J. (2021). Molecular cloning: A laboratory manual (4th ed.). Cold Spring Harbor Laboratory Press.
Green, M. R., & Sambrook, J. (2020). Restriction endonucleases. Cold Spring Harbor Protocols, 2020(9), https://doi.org/10.1101/pdb.top100545
Iyengar, S. K., Sedor, J. R., Freedman, B. I., Kao, W. H. L., Kretzler, M., Keller, B. J., … Langefeld, C. D. (2015). Genome-wide association and trans-ethnic meta-analysis for advanced diabetic kidney disease. PLOS Genetics, 11(8), e1005352. https://doi.org/10.1371/journal.pgen.1005352
Kautt, A. F., Machado-Schiaffino, G., Meyer, A., & Torres-Dowdall, J. (2022). Applications of PCR-RFLP genotyping in SNP detection and molecular ecology studies. Molecular Ecology Resources, 22(3), 1023–1035. https://doi.org/10.1111/1755-0998.13545
Khaira, A., Achyar, A., Atifah, Y., & Putri, D. H. (2023). Primer design and optimization of annealing temperature for analysis of glutathione reductase gene expression in rice (Oryza sativa L.). Bioscience Research, 5(1), 142–148. https://doi.org/10.5614/3bio.2023.5.1.3
Kratochwil, C. F., Kautt, A. F., Rometsch, S. J., & Meyer, A. (2022). Benefits and limitations of a new genome-based PCR-RFLP genotyping assay. Ecology and Evolution, 12(3), e8751. https://doi.org/10.1002/ece3.8751
Li, Q., Wen, F., Wang, Y., Li, S., Lin, S., Qi, C., … Wang, W. (2021). Diabetic kidney disease benefits from intensive low-protein diet: Updated systematic review and meta-analysis. Diabetes Therapy, 12(1), 21–36. https://doi.org/10.1007/s13300-020-00952-5
Lucena-Aguilar, G., Marí, A., Barberá, C., Carrillo-Ávila, J. A., & López-Guerrero, J. A. (2016). DNA source selection for downstream applications based on DNA quality indicators analysis. Biopreservation and Biobanking, 14(4), 264–270. https://doi.org/10.1089/bio.2015.0064
Owiredu, W. K. B. A., Appiah, M., Obirikorang, C., Adu, E. A., Boima, V., Amos-Abanyie, E. K., … Acheampong, E. (2020). Association of MYH9 rs3752462 polymorphism with chronic kidney disease. Clinical Hypertension, 26(1), 1–9. https://doi.org/10.1186/s40885-020-00148-w
Pingoud, A., Wilson, G. G., & Wende, W. (2020). Type II restriction endonucleases—A historical perspective and more. Nucleic Acids Research, 48(14), 7577–7598. https://doi.org/10.1093/nar/gkaa476
Roberts, R. J., Vincze, T., Posfai, J., & Macelis, D. (2021). REBASE: A database for DNA restriction and modification—Enzymes, genes and genomes. Nucleic Acids Research, 49(D1), D344–D349. https://doi.org/10.1093/nar/gkaa1046
Sinha, R., et al. (2020). PCR-RFLP: A tool for molecular genetic analysis. Molecular Biology Reports, 47(2), 1–10. https://doi.org/10.1007/s11033-019-05169-0
Suherman, Sopiah, P., & Ridwan, H. (2023). Literature review: Hubungan diabetes melitus dengan kejadian gagal ginjal kronik. Jurnal Ilmiah Keperawatan, 9(5), 639–644. https://doi.org/10.33023/jikep.v9i5.1634
Syurma, A., Ismail, S., & Bukhari, A. (2021). Terapi nutrisi pada nefropati diabetik. Indonesian Journal of Clinical Nutrition Physician, 4(1), 45–50. https://doi.org/10.54773/ijcnp.v4i1.55
Tarach, P. (2021). Application of polymerase chain reaction–restriction fragment length polymorphism (RFLP-PCR) in the analysis of single nucleotide polymorphisms (SNPs). Acta Universitatis Lodziensis. Folia Biologica et Oecologica, 17, 48–53. https://doi.org/10.18778/1730-2366.16.14
Tavira, B., Coto, E., Gómez, J., Tranche, S., Miguélez, K., & Ortega, F. (2013). Association between a MYH9 polymorphism and renal function. Gene, 520(1), 73–76. https://doi.org/10.1016/j.gene.2013.02.024
Thomas, M. C., Brownlee, M., Susztak, K., et al. (2021). Diabetic kidney disease. Nature Reviews Disease Primers, 7, 1–22.
https://doi.org/10.1038/s41572-021-00259-0
Tuttle, K. R., et al. (2022). Diabetic kidney disease: A report from the ADA consensus conference. Diabetes Care, 45(12), 3075–3090. https://doi.org/10.2337/dci22-0022
Wittmeier, P., & Hummel, S. (2022). Benchmark agarose gel electrophoresis to assess PCR product yield. BioTechniques, 72(4), 8–11. https://doi.org/10.2144/btn-2021-0094
Wilson, K., & Walker, J. (2010). Principles and techniques of biochemistry and molecular biology (7th ed.). Cambridge University Press. https://doi.org/10.1017/CBO9780511841477
License
Copyright (c) 2026 Ahmad Akmal Maulana, Muhammad Taufiq Qurrohman

This work is licensed under a Creative Commons Attribution 4.0 International License.

Jurnal Biologi Tropis is licensed under a Creative Commons Attribution 4.0 International License.
The copyright of the received article shall be assigned to the author as the owner of the paper. The intended copyright includes the right to publish the article in various forms (including reprints). The journal maintains the publishing rights to the published articles.
Authors are permitted to disseminate published articles by sharing the link/DOI of the article at the journal. Authors are allowed to use their articles for any legal purposes deemed necessary without written permission from the journal with an acknowledgment of initial publication to this journal.























