Potassium Inwardly Rectifying Channel Subfamily J Member 11 (KCNJ11) RS5219 Gene Polymorphism as a Risk Factor for Type 2 Diabetes Mellitus in Indonesia: A Case Control Study
DOI:
https://doi.org/10.35898/ghmj-81s1160Keywords:
KCNJ11 gene, rs5219 polymorphism, Type 2 diabetes mellitusAbstract
Background: Diabetes Mellitus (DM) is a chronic metabolic disease caused by the failure of the pancreas to produce the hormone insulin or ineffective use of the hormone insulin. It is estimated that 537 million adults aged 20-79 years worldwide suffer from DM. Genetics is one of the risk factors involved in the pathophysiology of type 2 DM. The KCNJ11 gene encodes the Kir6.2 protein that is responsible for adenosine triphosphate-sensitive potassium ion channels (kATP) synthesis in pancreatic beta cells plasma membrane.
Aims: This study aims to examine the KCNJ11 rs5219 gene polymorphism as a risk factor for type 2 diabetes mellitus in Cirebon population.
Methods: This case control study involved 29 cases of type 2 diabetes mellitus and 29 healthy controls with purposive sampling technique. Sample data was obtained through the examination of blood sugar, DNA extraction, PCR-RFLP with Eco24I restriction enzyme, then visualization of the results with Gel Electrophoresis.
Results: The frequency of G allele was found more in the case group (70%) while the frequency of A allele was found more in the control group (38%). The frequency of heterozygous GA genotype was found more in the control group (48.3%) and the frequency of homozygous mutant AA genotype was more in the case group (17.2%) compared to the control group (13.8%). Chi-Square Test results obtained p-value 0.115, OR value 2.318.
Conclusion: This study showed no significant association between Potassium Inwardly Rectifying Channel Subfamily J Member 11 (KCNJ11) rs5219 gene polymorphism and the incidence of Type 2 Diabetes Mellitus in Cirebon population.
Downloads
References
Aka, T. Das, Saha, U., Shati, S. A., Aziz, M. A., Begum, M., Hussain, M. S., Millat, M. S., Uddin, M. S., & Islam, M. S. (2021). Risk of type 2 diabetes mellitus and cardiovascular complications in KCNJ11, HHEX and SLC30A8 genetic polymorphisms carriers: A case-control study. Heliyon, 7(11). https://doi.org/10.1016/j.heliyon.2021.e08376
Alqadri, N. (2022). Independent case-control study in KCNJ11 gene polymorphism with Type 2 diabetes Mellitus. Saudi Journal of Biological Sciences, 29(4), 2794–2799. https://doi.org/10.1016/j.sjbs.2022.01.008
Gallardo-Blanco, H. L., Villarreal-Perez, J. Z., Cerda-Flores, R. M., Figueroa, A., Sanchez-Dominguez, C. N., Gutierrez-Valverde, J. M., Torres-Muñoz, I. C., Lavalle-Gonzalez, F. J., Gallegos-Cabriales, E. C., & Martinez-Garza, L. E. (2017). Genetic variants in KCNJ11, TCF7L2 and HNF4A are associated with type 2 diabetes, BMI and dyslipidemia in families of northeastern Mexico: A pilot study. Experimental and Therapeutic Medicine, 13(2), 523–529. https://doi.org/10.3892/etm.2016.3990
Haghvirdizadeh, P., Mohamed, Z., Abdullah, N. A., Haghvirdizadeh, P., Haerian, M. S., & Haerian, B. S. (2015). KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus. Journal of Diabetes Research, 2015. https://doi.org/10.1155/2015/908152
Keshavarz, P., Habibipour, R., Ghasemi, M., Kazemnezhad, E., Alizadeh, M., & Omami, M. H. H. (2014). Lack of genetic susceptibility of KCNJ11 E23K polymorphism with risk of type 2 diabetes in an Iranian population. Endocrine Research, 39(3), 120–125. https://doi.org/10.3109/07435800.2013.860607
Li, Y., Shen, K., Li, C., Yang, Y., Yang, M., Tao, W., He, S., Shi, L., & Yao, Y. (2020). Identifying the association between single nucleotide polymorphisms in kcnq1, arap1, and kcnj11 and type 2 diabetes mellitus in a chinese population. International Journal of Medical Sciences, 17(15), 2379–2386. https://doi.org/10.7150/ijms.48072
Makhzoom, O., Kabalan, Y., & Al-Quobaili, F. (2019). Association of KCNJ11 rs5219 gene polymorphism with type 2 diabetes mellitus in a population of Syria: A case-control study. BMC Medical Genetics, 20(1). https://doi.org/10.1186/s12881-019-0846-3
Moazzam-Jazi, M., Najd-Hassan-Bonab, L., Masjoudi, S., Tohidi, M., Hedayati, M., Azizi, F., & Daneshpour, M. S. (2022). Risk of type 2 diabetes and KCNJ11 gene polymorphisms: a nested case–control study and meta-analysis. Scientific Reports, 12(1). https://doi.org/10.1038/s41598-022-24931-x
Phani, N. M., Guddattu, V., Bellampalli, R., Seenappa, V., Adhikari, P., Nagri, S. K., D’Souza, S. C., Mundyat, G. P., Satyamoorthy, K., & Rai, P. S. (2014). Population specific impact of genetic variants in KCNJ11 gene to type 2 diabetes: A case-control and meta-analysis study. PLoS ONE, 9(9). https://doi.org/10.1371/journal.pone.0107021
Downloads
Published
Issue
Section
Categories
License
Copyright (c) 2025 Annisa Septiani Putri, S.Ked., dr. Tiar Masykuroh Pratamawati, M.M., M.Biomed, Donny Nauphar, M.Si.Med.
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
GHMJ (Global Health Management Journal) conforms fully to The Budapest Open Access Initiative (BOAI) and DOAJ Open Access Definition. Authors, readers, and reviewers are free to Share ” copy and redistribute the material in any medium or format, and Adapt ” remix, transform, and build upon the material. Author(s) retain unrestricted copyrights and publishing rights of their work. The licensor cannot revoke these freedoms as long as you follow the license terms. Learn the details at the License policy.
How to Cite
