STUDY OF GENETIC ASSOCIATION BETWEEN the rs1799817 POLYMORPHISM OF THE INSULIN RECEPTOR GENE and THE DEVELOPMENT OF TYPE 2 DIABETES MELLITUS
Authors
Saatov Talat Saatovich, Toshtemirov Abdunabi Eshboyevich, Ibragimova Elvira Akhmedovna, Abdurakhimov Sunnatillla, Ibragimov Zafar Zokirjonovich
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Type 2 diabetes mellitus (T2DM) is a chronic metabolic disease characterized by elevated blood glucose levels due to defects in insulin secretion or its signaling pathway. This disease develops as a result of the complex interaction between genetic, metabolic, and environmental factors. In this study, we investigated the association between the rs1799817 (C>T) polymorphism in exon 17 of the insulin receptor (INSR) gene and the risk of T2DM. A total of 144 participants were included in the study, with 66 diagnosed with T2DM and 78 healthy individuals as controls. Genetic analysis was performed by isolating DNA from peripheral blood samples and detecting the rs1799817 polymorphism using PCR and PmlI restriction enzyme digestion. Genotyping results showed no deviation from Hardy-Weinberg equilibrium in both groups. Although the overall genotype distribution did not reach statistical significance (χ² = 5.35, p = 0.069), allelic analysis revealed a significant association. The C allele was less frequent in T2DM patients (54.5%) compared to controls (67.3%), while the T allele was more frequent in T2DM patients (45.5% vs 32.7%, p = 0.028). The C allele was associated with a protective effect against T2DM (OR = 0.58, 95% CI: 0.36–0.94). Further analysis using dominant and recessive models showed a trend toward reduced disease risk in carriers of the CC genotype (OR = 0.53, 95% CI: 0.28–1.00, p = 0.05), whereas the TT genotype did not show a significant association (OR = 1.69, 95% CI: 0.71–3.99, p > 0.05). These findings suggest that the rs1799817 polymorphism may influence susceptibility to T2DM, with the C allele potentially offering a protective effect. Further studies with larger sample sizes and mechanistic investigations are needed to validate these results and explore the biological mechanisms underlying this association.
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Authors
Saatov Talat Saatovich, Toshtemirov Abdunabi Eshboyevich, Ibragimova Elvira Akhmedovna, Abdurakhimov Sunnatillla, Ibragimov Zafar Zokirjonovich
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References:
Khokhar, P. B., Pentangelo, V., Palomba, F., Gravino, C. Towards Reliable and Transparent Diabetes Diagnosis with an Explainable Ensemble Framework for Clinical Decision Support //2025 International Conference on Artificial Intelligence, Computer, Data Sciences and Applications (ACDSA). – IEEE, 2025. – С. 1-8.
Młynarska, E., Czarnik, W., Dzieża, N., Jędraszak, W., Majchrowicz, G., Prusinowski, F., Franczyk, B. Type 2 diabetes mellitus: new pathogenetic mechanisms, treatment and the most important complications //International journal of molecular sciences. – 2025. – Т. 26. – №. 3. – С. 1094.
Gao, W., Deng, Z., Gong, Z., Jiang, Z., & Ma, L. AI-driven Prediction of Insulin Resistance in Normal Populations: Comparing Models and Criteria //arXiv preprint arXiv:2503.05119. – 2025.
Mekuria, A. N., Ayele, Y., Tola, A., & Mishore, K. M. Monotherapy with Metformin versus Sulfonylureas and Risk of Cancer in Type 2 Diabetic Patients: A Systematic Review and Meta‐Analysis //Journal of Diabetes Research. – 2019. – Т. 2019. – №. 1. – С. 7676909.
Irgam, K., Reddy, B. S., Hari, S. G., Banapuram, S., Reddy, B. M. The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad //BMC Medical Genomics. – 2021. – Т. 14. – №. 1. – С. 272.
Payankaulam, S., Raicu, A. M., Arnosti, D. N. Transcriptional regulation of INSR, the insulin receptor gene //Genes. – 2019. – Т. 10. – №. 12. – С. 984.
Park, M., Kim, J. S., Park, Y. A., Lee, D. H., Choi, S. A., Chang, Y., Yee, J. Association between insulin‐associated gene polymorphisms and new‐onset diabetes mellitus in statin‐treated patients //European Journal of Clinical Investigation. – 2025. – Т. 55. – №. 4. – С. e14366.
Hubbard S. R. Insulin meets its receptor //Nature. – 2013. – Т. 493. – №. 7431. – С. 171-172.
Feng, C., Lv, P. P., Yu, T. T., Jin, M., Shen, J. M., Wang, X., Jiang, S. W. The association between polymorphism of INSR and polycystic ovary syndrome: a meta-analysis //International journal of molecular sciences. – 2015. – Т. 16. – №. 2. – С. 2403-2425.
Daghestani M. H. Rs1799817 in INSR associates with susceptibility to polycystic ovary syndrome //Journal of medical biochemistry. – 2020. – Т. 39. – №. 2. – С. 149.
Chandrasekaran, P., Weiskirchen, R. Cellular and molecular mechanisms of insulin resistance //Current Tissue Microenvironment Reports. – 2024. – Т. 5. – №. 3. – С. 79-90.
Zerón H. M., Maldonado A. N., Sánchez M. M. Hyperglycemia, an abnormality that results from a breakdown of normal glucose control processes is also the result of molecular mechanisms to protect the insulin receptor? A hypothesis //Ibom Medical Journal. – 2025. – Т. 18. – №. 1. – С. 30-39.
Adam, A. R., Ozbakir, B., Ozay, A. C., Tulay, P. Investigation of allele frequencies of polymorphic variants in genes that are related to polycystic ovary syndrome //Revista da Associação Médica Brasileira. – 2022. – Т. 68. – №. 11. – С. 1558-1564.
https://www.snpedia.com/index.php/Rs1799817
De Meyts P. The insulin receptor and its signal transduction network //Endotext [Internet]. – 2016.
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