Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets.

ABSTRACT: Genome-wide association studies (GWASs) of melanoma risk have identified 68 independent signals at 54 loci. For most loci, specific functional variants and their respective target genes remain to be established. Capture-HiC is an assay that links fine-mapped risk variants to candidate target genes by comprehensively mapping chromatin interactions. We performed a melanoma GWAS region-focused capture-HiC assay in human primary melanocytes to identify physical interactions between fine-mapped risk variants and potential causal melanoma-susceptibility genes. Overall, chromatin-interaction data alone nominated potential causal genes for 61 of the 68 melanoma risk signals, identifying many candidates beyond those reported by previous studies. We further integrated these data with epigenomic (chr

SUBMITTER: Thakur R 

PROVIDER: S-EPMC12256899 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature