Identification and validation of novel risk genes for intervertebral disc disorder by integrating large-scale multi-omics analyses and experimental studies.

ABSTRACT:

Introduction

Although genome-wide association studies (GWAS) have identified multiple genetic loci linked to intervertebral disc disorder (IDD), their functional characterization remains largely unelucidated. We aim to leverage an integrative analytical pipeline to identify novel IDD risk genes from genetic associations and experimentally validate their functional roles.

Methods

We integrated transcriptome-wide association studies (TWAS), proteome-wide association studies (PWAS), expression and protein quantitative trait loci (eQTL and pQTL) colocalization analyses to identify potential causal genes for IDD. Enrichment analysis, expression profiling, protein-protein interaction (PPI) network construction, and druggability evaluation were also performed for the prioritized ca

SUBMITTER: Zhang Z 

PROVIDER: S-EPMC12612748 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature