Combined analysis of whole‐exon sequencing and lncRNA sequencing in type 2 diabetes mellitus patients with obesity

Abstract

This study sought to find more exon mutation sites and lncRNA candidates associated with type 2 diabetes mellitus (T2DM) patients with obesity (O‐T2DM). We used O‐T2DM patients and healthy individuals to detect mutations in their peripheral blood by whole‐exon sequencing. And changes in lncRNA expression caused by mutation sites were studied at the RNA level. Then, we performed GO analysis and KEGG pathway analysis. We found a total of 277 377 mutation sites between O‐T2DM and healthy individuals. Then, we performed a DNA‐RNA joint analysis. Based on the screening of harmful sites, 30 mutant genes shared in O‐T2DM patients were screened. At the RNA level, mutations of 106 differentially expressed genes were displayed. Finally, a consensus mutation site and differential expression consensus gene screening were performed. In the current study, the results revealed significant differences in exon sites in peripheral blood between O‐T2DM and healthy individuals, which may play an important role in the pathogenesis of O‐T2DM by affecting the expression of the corresponding lncRNA. This study provides clues to the molecular mechanisms of metabolic disorders in O‐T2DM patients at the DNA and RNA levels, as well as biomarkers of the risk of these disorders.

Long non‐coding RNA screening and identification of potential biomarkers for type 2 diabetes

“…Genes perform their biological functions through coordination. This is especially true for complex diseases, such as T2D, which may be the result of a phenotypic difference caused by mutations in multiple genes 17 …”

“…This is especially true for complex diseases, such as T2D, which may be the result of a phenotypic difference caused by mutations in multiple genes. 17 To investigate enriched genes in biological processes (BP), cellular components (CC), and molecular functions (MF), GO analysis was performed with the differentially expressed mRNAs. The top five most significant GO terms for each module based on the FDR ≤ 0.05 (Bonferroni correction) and P ‐value are listed in Figure 2A .…”

Identification of a Multi-Messenger RNA Signature as Type 2 Diabetes Mellitus Candidate Genes Involved in Crosstalk between Inflammation and Insulin Resistance

“…Consistent with our results, An.,T. et al, in 2020, performed a whole exons sequencing for obese patients with T2DM, and the DDX58 gene was one of the mutated genes that was differentially expressed in the T2DM patients [ 41 ]. On the other hand, another study found that DDX58 (RIG1) deficiency promotes insulin resistance induced by a high-fat diet in mice [ 42 ].…”