Genetic transcriptional regulation profiling of cartilage reveals pathogenesis of osteoarthritis.

ABSTRACT:

Background

Genome-wide association studies (GWAS) have identified more than one hundred risk loci for osteoarthritis (OA). Identifying the effector genes and deciphering the underlying regulatory mechanisms are of great importance but remains challenging due to limited availability of OA-related tissue data. This study aims to address this issue by generating a cartilage expression quantitative trait loci (eQTLs) and a functional fine-mapping resource.

Methods

We performed cis-eQTL analysis using genomics and cartilage transcriptomics data from 204 patients with OA (largest sample size to date). Cell type-interaction eQTL analysis (ci-eQTL) was conducted to explore the chondrocyte subtype dependency of eQTL effects. Co-localization analysis was used to nominate effector gene

SUBMITTER: Tian W 

PROVIDER: S-EPMC12278629 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature