Iranian Journal of Diabetes and Obesity

en Common Polymorphisms Identified In Patients with Type 2 Diabetes Mellitus Revealed From Next-Generation Sequencing Analysis تخصصي Special پژوهشي Research Objective: Type 2 diabetes mellitus (T2DM) is a multifactorial genetic condition caused by the combination of genes and environmental factors. Several variations linked to T2DM have been discovered in recent genetic investigations, particularly genome-wide association studies (GWAS). This study aimed to investigate genes involved in T2DM, focusing on the NGS analysis and studying the genetic basis of T2DM to improve diagnosis, prevention, and treatment. Materials and Methods: We selected 5 families based on the diagnosis of diabetes at the age of 30 years or earlier in at least 3 consecutive generations for NGS analyses. Results: For each of the 5 participants tested thus far, a mean of 11 to 21 variants of clinical significance were detected. These variants were located in different genes, which indicate the association of these genes with susceptibility to diabetes. WFS1 and INS gene mutations were present in all five diabetic patients analyzed. Specifically, mutations in WFS1, KCNJ11, ABCC8, HNF1B, INS, GCKR, HNF1A and PCSK1N account for 25%, 13%, 8%, 7%, 7%, 6%, 6% and 6% of patients, respectively. Conclusion: WFS1 is the most often altered gene in our participants with putative alterations, according to our findings (25%). WFS1 mutations were discovered in all of the probands.   diabetes mellitus, Type 2, Next generation sequencing 73 80 http://ijdo.ssu.ac.ir/browse.php?a_code=A-10-30-375&slc_lang=en&sid=1 Fateme Sefid 0000-0003-0867-9305 No Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. Ghasem Azamirad 0000-0001-9323-1294 No Department of Mechanical Engineering, Yazd University, Yazd, Iran. Samira Asadollahi 0000-0002-6712-0504 No Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. Seyed Mehdi Kalantar 0000-0002-6994-6449 No Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. Research and Clinical Center for Infertility, Reproduction Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. Meybod Genetics Research Center, Welfare Organization, Meybod, Yazd, Iran. Saeed Hosein Khalilzade 0000-0001-5016-9291 No Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. Mohammad Yahya Vahidi Mehrjardi 0000-0003-0535-1590 Yes Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.