Contribution of 3D genome topological domains to genetic risk of cancers: a genome-wide computational study.

ABSTRACT:

Background

Genome-wide association studies have identified statistical associations between various diseases, including cancers, and a large number of single-nucleotide polymorphisms (SNPs). However, they provide no direct explanation of the mechanisms underlying the association. Based on the recent discovery that changes in three-dimensional genome organization may have functional consequences on gene regulation favoring diseases, we investigated systematically the genome-wide distribution of disease-associated SNPs with respect to a specific feature of 3D genome organization: topologically associating domains (TADs) and their borders.

Results

For each of 449 diseases, we tested whether the associated SNPs are present in TAD borders more often than observed by chance, where

SUBMITTER: Jablonski KP 

PROVIDER: S-EPMC8753905 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature