Published online Jul 15, 2019. doi: 10.4239/wjd.v10.i7.376
Peer-review started: February 22, 2019
First decision: May 8, 2019
Revised: May 23, 2019
Accepted: June 11, 2019
Article in press: June 11, 2019
Published online: July 15, 2019
Type 2 diabetes (T2D) mellitus is a common complex disease that currently affects more than 400 million people worldwide and has become a global health problem. High-throughput sequencing technologies such as whole-genome and whole-exome sequencing approaches have provided numerous new insights into the molecular bases of T2D. Recent advances in the application of sequencing technologies to T2D research include, but are not limited to: (1) Fine mapping of causal rare and common genetic variants; (2) Identification of confident gene-level associations; (3) Identification of novel candidate genes by specific scoring approaches; (4) Interrogation of disease-relevant genes and pathways by transcriptional profiling and epigenome mapping techniques; and (5) Investigation of microbial community alterations in patients with T2D. In this work we review these advances in application of next-generation sequencing methods for elucidation of T2D pathogenesis, as well as progress and challenges in implementation of this new knowledge about T2D genetics in diagnosis, prevention, and treatment of the disease.
Core tip: Next-generation sequencing (NGS) technologies have a broad range of applications in studying the genetic causes of type 2 diabetes (T2D), such as: (1) Identification of rare and common genetic variants, associated with disease; (2) Functional studies for describing role of genes in disease pathogenesis; and (3) Evaluation of environmental contribution to the disease by using microbiome profiling methods. This review of NGS application to the genetic research of T2D presents the advances and challenges related with sequencing analysis-based studies and implementation of this knowledge in clinical practice.