Bridging the variant-to-function gap in type 2 diabetes: advances and challenges.

ABSTRACT: Type 2 diabetes is a polygenic, heterogeneous disease affecting over 530 million individuals worldwide, a number projected to rise to 1.3 billion by 2050. Genome-wide association studies have identified over 1200 loci associated with type 2 diabetes, yet only a modest proportion of disease heritability has been explained, and most risk variants lie in non-coding regions, complicating biological interpretation. This review synthesises how recent advances in variant-to-function (V2F) strategies, including fine-mapping, chromatin profiling, single-cell multi-omics, scalable CRISPR-based perturbation strategies and machine learning tools, have begun to link non-coding variants to effector genes, tissues and molecular mechanisms. We highlight examples of V2F resolution across key type 2 diabete

SUBMITTER: Maynard AG 

PROVIDER: S-EPMC12779665 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature