From association to mechanism in complex disease genetics: the role of the 3D genome.

ABSTRACT: Genome-wide association studies (GWAS) and fine mapping studies in autoimmune diseases have identified thousands of genetic variants, the majority of which are located in non-protein-coding enhancer regions. Enhancers function within the context of the three-dimensional (3D) genome to form long-range DNA looping events with target gene promoters that spatially and temporally regulate gene expression. Investigating the functional significance of GWAS variants in the context of the 3D genome is essential for mechanistic understanding of these variants and how they influence disease pathology by altering DNA looping between enhancers and the target gene promoters they regulate. In this review, we discuss the functional complexity of the 3D genome and the technological approaches used to chara

SUBMITTER: Fu Y 

PROVIDER: S-EPMC6162955 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature