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INTERNATIONAL CONGRESS OF

PharmacoGenetics

• Investigation of Common Mutations related to Pharmacotherapy (pharmacogenetics) in Chronic Kidney Disease (CKD) patients using Next-Generation Sequencing (NGS) Technique

• Delaram Hassani,^1,* Maryam Eslami,² Ahmad Ebrahimi,³ Hanieh Mirtalebi,⁴ Tahereh Malakoutian,⁵ Honaz Akbari,⁶
  1. Department of Cellular and Molecular Biology, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran / Applied Biotechnology Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran
  2. International Faculty, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran / Department of Genetics, Faculty of Advanced Science and technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
  3. Kowsar Human Genetics Research Institute, Yas medical Genetics Lab, Tehran, Iran.
  4. Cellular and Developmental Biology, Department of Biology, Islamic Azad University, Parand Branch, Tehran, Iran
  5. Department of Nephrology, Hasheminejad Kidney Center, Iran University of Medical Sciences, Tehran, Iran.
  6. Department of Internal Medicine, Firouzgar Hospital, Iran University of Medical Sciences, Tehran, Iran
  
  
  
• Introduction: Chronic kidney disease (CKD) patients frequently show diverse responses to medications,which can be attributed to underlying genetic mutations affecting drug metabolism and efficacy. Pharmacogenetic profiling is essential for tailoring treatments to individual genetic profiles, thus enhancing therapeutic outcomes. This study employs next generation sequencing ( NGS ) to identify and analyze common mutations in CKD patients, providing insights fir more personalized and effective pharmacotherapy.
• Methods: This cross-sectional study was conducted in 2022 at the Department of Nephrology of Hashemi Nezhad in Tehran,Iran,and included 60 participants, Comprising 20 patients with CKD and 40 controls selected from marriage screening . Eligible CKD patients underwent clinical tests confirming their diagnosis,after which blood samples were collected for genetic analysis using NGS. DNA extraction was performed via the salting out method,Ultimately comparing clinical data between the patients and control groups.
• Results: Patients,Matching the initial findings with the patient's clinical and preparing the final reports of each patient and extracting and analyzing data related to the design variables and statistical analysis based on the pharmacogenetics of the patients.The molecular diagnosis and genetic confirmation of the disease was done with aim of classification and then by analyzing the genetic finding related to drug metabolism, We achieved interesting results in terms of the extent and variety of mutations and the heterogeneity of the changes. The must mutations were detected for the genes of Atorvastatin ,Losartan ,Mycophenolate and Tacrolimus, which can be expected to disrupt the response process to the above drugs.For Belatacept,Zidovudine,Sirolimus, Hydrochlorothiazide,Sandimmone,Carvedilol and Allopurinol, The patagenic effect of mutation and drug resistance was not observed in patients with CKD. The clinical data were compatible with the genotype.
• Conclusion: This study demonstrates that investigating common mutations related to drug treatment in patients with CKD using next generation sequencing can serve as a valuable public health approach to prevent CKD development , Progression and complications. Further research is essential to address key issues and validate these findings, While urgent action is needed to collect data on the efficacy, Effectiveness , and costs associated with CKD management.
• Keywords: Chronic Kidney Disease , CKD, Next generation sequencing ( NGS ) technique , Pharmacogenetics