Abstract
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.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.