Links between melanoma germline risk loci, driver genes and comorbidities: insight from a tissue-specific multi-omic analysis.

ABSTRACT: Genome-wide association studies (GWAS) have associated 76 loci with the risk of developing melanoma. However, understanding the molecular basis of such associations has remained a challenge because most of these loci are in non-coding regions of the genome. Here, we integrated data on epigenomic markers, three-dimensional (3D) genome organization, and expression quantitative trait loci (eQTL) from melanoma-relevant tissues and cell types to gain novel insights into the mechanisms underlying melanoma risk. This integrative approach revealed a total of 151 target genes, both near and far away from the risk loci in linear sequence, with known and novel roles in the etiology of melanoma. Using protein-protein interaction networks, we identified proteins that interact-directly or indirectly-wit

SUBMITTER: Pudjihartono M 

PROVIDER: S-EPMC10994230 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature