Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus.

ABSTRACT: Type 1 diabetes mellitus (T1DM) is defined as an autoimmune disorder and has enormous complexity and heterogeneity. Although its precise pathogenic mechanisms are obscure, this disease is widely acknowledged to be precipitated by environmental factors in individuals with genetic susceptibility. To date, the known susceptibility loci, which have mostly been identified by genome-wide association studies, can explain 80%-85% of the heritability of T1DM. Researchers believe that at least a part of its missing genetic component is caused by undetected rare and low-frequency variants. Most common variants have only small to modest effect sizes, which increases the difficulty of dissecting their functions and restricts their potential clinical application. Intriguingly, many studies have indicate

SUBMITTER: Pang H 

PROVIDER: S-EPMC8086251 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature