Next Article in Journal
Blueprints for Biosensors: Design, Limitations, and Applications
Next Article in Special Issue
Profiling DNA Methylation Based on Next-Generation Sequencing Approaches: New Insights and Clinical Applications
Previous Article in Journal
Insights into Avian Incomplete Dosage Compensation: Sex-Biased Gene Expression Coevolves with Sex Chromosome Degeneration in the Common Whitethroat
Previous Article in Special Issue
Decoding the Heart through Next Generation Sequencing Approaches
Article Menu
Issue 8 (August) cover image

Export Article

Open AccessReview
Genes 2018, 9(8), 374;

High-Throughput Approaches onto Uncover (Epi)Genomic Architecture of Type 2 Diabetes

Laboratory of Cell Signaling and Metabolic Disorders, Nencki Institute of Experimental Biology of Polish Academy of Sciences, 02-093 Warsaw, Poland
These authors contributed equally to this work.
Author to whom correspondence should be addressed.
Received: 27 May 2018 / Revised: 20 July 2018 / Accepted: 23 July 2018 / Published: 26 July 2018
(This article belongs to the Special Issue Emerging Applications for Next Generation Sequencing)
Full-Text   |   PDF [832 KB, uploaded 26 July 2018]   |  


Type 2 diabetes (T2D) is a complex disorder that is caused by a combination of genetic, epigenetic, and environmental factors. High-throughput approaches have opened a new avenue toward a better understanding of the molecular bases of T2D. A genome-wide association studies (GWASs) identified a group of the most common susceptibility genes for T2D (i.e., TCF7L2, PPARG, KCNJ1, HNF1A, PTPN1, and CDKAL1) and illuminated novel disease-causing pathways. Next-generation sequencing (NGS)-based techniques have shed light on rare-coding genetic variants that account for an appreciable fraction of T2D heritability (KCNQ1 and ADRA2A) and population risk of T2D (SLC16A11, TPCN2, PAM, and CCND2). Moreover, single-cell sequencing of human pancreatic islets identified gene signatures that are exclusive to α-cells (GCG, IRX2, and IGFBP2) and β-cells (INS, ADCYAP1, INS-IGF2, and MAFA). Ongoing epigenome-wide association studies (EWASs) have progressively defined links between epigenetic markers and the transcriptional activity of T2D target genes. Differentially methylated regions were found in TCF7L2, THADA, KCNQ1, TXNIP, SOCS3, SREBF1, and KLF14 loci that are related to T2D. Additionally, chromatin state maps in pancreatic islets were provided and several non-coding RNAs (ncRNA) that are key to T2D pathogenesis were identified (i.e., miR-375). The present review summarizes major progress that has been made in mapping the (epi)genomic landscape of T2D within the last few years. View Full-Text
Keywords: type 2 diabetes; NGS; epigenetics; GWAS; beta-cell failure; insulin resistance type 2 diabetes; NGS; epigenetics; GWAS; beta-cell failure; insulin resistance

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

Share & Cite This Article

MDPI and ACS Style

Dziewulska, A.; Dobosz, A.M.; Dobrzyn, A. High-Throughput Approaches onto Uncover (Epi)Genomic Architecture of Type 2 Diabetes. Genes 2018, 9, 374.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics



[Return to top]
Genes EISSN 2073-4425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top