摘要
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 genelevel 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.
Type 2 diabetes(T2 D) 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 T2 D. Recent advances in the application of sequencing technologies to T2 D research include, but are not limited to:(1) Fine mapping of causal rare and common genetic variants;(2) Identification of confident genelevel 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 T2 D. In this work we review these advances in application of next-generation sequencing methods for elucidation of T2 D pathogenesis, as well as progress and challenges in implementation of this new knowledge about T2 D genetics in diagnosis,prevention, and treatment of the disease.
基金
Supported by D.O.Ott Research Institute of Obstetrics,Gynaecology and Reproductology,project 558-2019-0012(АААА-А19-119021290033-1)of FSBSI
