Jahrom University of Medical Sciences Pars Journal of Medical Sciences 2717-0284 21 3 2024 01 21 Study on the correlation between single nucleotide polymorphism frequency in TYK2 gene with COVID-19 disease Study on the correlation between single nucleotide polymorphism frequency in TYK2 gene with COVID-19 disease 64 72 710171 10.22034/pjms.2024.710171 FA Hediyeh Tamimi Department of Genetics, Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran 0000-0002-8637-5908 Flora Forouzesh Department of Genetics, Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran Pooneh Rahimi Department of Hepatitis and AIDS and Blood Transmitted Diseases, Pasteur Institute of Iran, Tehran, Iran 0000-0001-8829-5373 Journal Article 2023 11 29 Introduction: The diversity in outcomes of COVID-19 infection and understanding its underlying reasons have led to<br />a global health challenge. Genetic features, especially variations in immune system genes, are considered as crucial factors contributing to the clinical diversity resulting from infections with viruses such as SARS-CoV-2.<br />Materials and Methods: In this study, DNA was extracted from blood samples of 220 COVID-19 patients. The PCR-RFLP<br />method was employed to identify single nucleotide polymorphisms in the Tyrosine Kinase 2 (TYK2) gene. After PCR amplification, the PCR products were enzymatically digested with AluI enzyme, and the resulting fragments were separated using gel electrophoresis. Phenotypes of each patient were determined by analyzing the created fragments, and for final confirmation, some samples were sent for sequencing.<br />Results: The study population included 102 recovered patients with mild COVID-19 and 118 deceased patients with severe disease. The frequency of the rs11085727 polymorphism in the TYK2 gene was statistically examined in both patient groups, revealing a significantly higher frequency in the deceased group compared to the recovered group <br />(p< 0.05).<br />Conclusion: Examining genetic factors and their variations, especially investigating single nucleotide polymorphisms in genes related to the innate immune system, can play a significant role in predicting susceptibility to COVID-19 and adopting personalized therapeutic approaches based on patients' genetics. According to the results obtained in this research, the rs11085727 polymorphism in the TYK2 gene is likely associated with the severity of COVID-19. Introduction: The diversity in outcomes of COVID-19 infection and understanding its underlying reasons have led to<br />a global health challenge. Genetic features, especially variations in immune system genes, are considered as crucial factors contributing to the clinical diversity resulting from infections with viruses such as SARS-CoV-2.<br />Materials and Methods: In this study, DNA was extracted from blood samples of 220 COVID-19 patients. The PCR-RFLP<br />method was employed to identify single nucleotide polymorphisms in the Tyrosine Kinase 2 (TYK2) gene. After PCR amplification, the PCR products were enzymatically digested with AluI enzyme, and the resulting fragments were separated using gel electrophoresis. Phenotypes of each patient were determined by analyzing the created fragments, and for final confirmation, some samples were sent for sequencing.<br />Results: The study population included 102 recovered patients with mild COVID-19 and 118 deceased patients with severe disease. The frequency of the rs11085727 polymorphism in the TYK2 gene was statistically examined in both patient groups, revealing a significantly higher frequency in the deceased group compared to the recovered group <br />(p< 0.05).<br />Conclusion: Examining genetic factors and their variations, especially investigating single nucleotide polymorphisms in genes related to the innate immune system, can play a significant role in predicting susceptibility to COVID-19 and adopting personalized therapeutic approaches based on patients' genetics. According to the results obtained in this research, the rs11085727 polymorphism in the TYK2 gene is likely associated with the severity of COVID-19. https://jmj.jums.ac.ir/article_710171_89d8f8a646d2cd41613041511e8de64f.pdf