Identification of candidate susceptibility genes for cutaneous malignant melanoma through integrated multi-method analysis.

ABSTRACT:

Background

Cutaneous malignant melanoma (CMM) is a deadly skin cancer with genetic basis. Although genome-wide association studies (GWAS) have identified various risk loci, their functional consequences remain largely undefined. This study aims to uncover novel CMM-associated genes and investigate their potential biological mechanisms by integrating large-scale genetic and transcriptomic datasets.

Methods

We combined CMM GWAS summary statistics with gene expression data from GTEx v8 and conducted transcriptome-wide association studies (TWAS) across multiple tissues. Key genes were further examined using MAGMA-based gene-level analysis, Bayesian fine-mapping, Mendelian randomization (MR), and colocalization to infer potential causality. Functional associations were explored v

SUBMITTER: Zhou P 

PROVIDER: S-EPMC12748432 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature