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J Cell Mol Med ; 24(4): 2451-2463, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31957265

RESUMO

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.


Assuntos
Diabetes Mellitus Tipo 2/genética , Obesidade/genética , RNA Longo não Codificante/genética , Adulto , Estudos de Casos e Controles , DNA/genética , Éxons , Feminino , Expressão Gênica/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , RNA/genética , Sequenciamento do Exoma/métodos
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