The rs4430796 SNP of the HNF1β gene associates with type 2 diabetes in older adults

Complex forms of diabetes are the ultimate common pathway involving multiple genetic variations and multiple environmental factors. Type 2 diabetes (T2DM) is classified as complex diabetes. Varying degrees of insulin deficiency and tissue insulin resistance are two key links to T2DM. The islet β cell dysfunction plays a crucial role in the pathogenesis of T2DM. The decompensation of the islet β cell to insulin resistance is a common mechanism leading to the pathogenesis of T2DM. Available data show that genetic factors mainly affect cell function. At present, a number of susceptibility genes related to T2DM have been reported at home and abroad. In this study, the diabetes-related genes in the case of early-onset diabetes with a significant family history were examined, and our results showed the presence of the intron mutations of catalase (CAT) gene and hepatocyte nuclear factor 1β (HNF1β) gene. The patient enrolled in this study was observed and analyzed, thus, increasing further understanding of the genes associated with diabetes and exploring the pathogenesis of diabetes from the molecular level. This is significant for guiding the prevention, treatment, and prognosis evaluation of diabetes.

show abstract

Identification of Gene Signature Associated with Type 2 Diabetes Mellitus by Integrating Mutation and Expression Data

Zhu

Han

Liang

2021

CGT

View full text Add to dashboard Cite

: Type 2 diabetes mellitus (T2DM) is a chronic disease. The molecular diagnosis should be helpful for the treatment of T2DM patients. With the development of sequencing technology, a large number of differentially expressed genes were identified from expression data. However, the method of machine learning can only identify the local optimal solution as the signature. The mutation information obtained by inheritance can better reflect the relationship between genes and diseases. Therefore, we need to integrate mutation information to more accurately identify the signature. To this end, we integrated genome-wide association study (GWAS) data and expression data, combined with expression quantitative trait loci (eQTL) technology to get T2DM predictive signature (T2DMSig-10). Firstly, we used GWAS data to obtain a list of T2DM susceptible loci. Then, we used eQTL technology to obtain risk single nucleotide polymorphisms (SNPs), and combined with the pancreatic β-cells gene expression data to obtain 10 protein-coding genes. Next, we combined these genes with equal weights. After receiver operating characteristic (ROC), single-gene removal and increase method, gene ontology function enrichment and protein-protein interaction network were used to verify the results that showed that T2DMSig-10 had an excellent predictive effect on T2DM (AUC=0.99), and was highly robust. In short, we obtained the predictive signature of T2DM, and further verified it.

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

hi@scite.ai

334 Leonard St

Brooklyn, NY 11211

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

The rs4430796 SNP of the HNF1β gene associates with type 2 diabetes in older adults

Cited by 3 publications

References 15 publications

Systems biology and bioinformatics approach to identify gene signatures, pathways and therapeutic targets of Alzheimer's disease

Systems biology and bioinformatics approach to identify gene signatures, pathways and therapeutic targets of Alzheimer's disease

A case report of CAT gene and HNF1β gene variations in a patient with early-onset diabetes

Identification of Gene Signature Associated with Type 2 Diabetes Mellitus by Integrating Mutation and Expression Data

Contact Info

Product

Resources

About