Common Polymorphisms Identified In Patients with Type ۲ Diabetes Mellitus Revealed From Next-Generation Sequencing Analysis

Objective: Type ۲ diabetes mellitus (T۲DM) is a multifactorial genetic condition caused by the combination of genes and environmental factors. Several variations linked to T۲DM have been discovered in recent genetic investigations, particularly genome-wide association studies (GWAS). This study aimed to investigate genes involved in T۲DM, focusing on the NGS analysis and studying the genetic basis of T۲DM to improve diagnosis, prevention, and treatment. Materials and Methods: We selected ۵ families based on the diagnosis of diabetes at the age of ۳۰ years or earlier in at least ۳ consecutive generations for NGS analyses. Results: For each of the ۵ participants tested thus far, a mean of ۱۱ to ۲۱ variants of clinical significance were detected. These variants were located in different genes, which indicate the association of these genes with susceptibility to diabetes. WFS۱ and INS gene mutations were present in all five diabetic patients analyzed. Specifically, mutations in WFS۱, KCNJ۱۱, ABCC۸, HNF۱B, INS, GCKR, HNF۱A and PCSK۱N account for ۲۵%, ۱۳%, ۸%, ۷%, ۷%, ۶%, ۶% and ۶% of patients, respectively. Conclusion: WFS۱ is the most often altered gene in our participants with putative alterations, according to our findings (۲۵%). WFS۱ mutations were discovered in all of the probands.

Keywords:

diabetes mellitus , Type ۲ , Next generation sequencing