Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis.

ABSTRACT:

Objective

Osteoarthritis (OA) has a strong genetic component but the success of previous genome-wide association studies (GWAS) has been restricted due to insufficient sample sizes and phenotype heterogeneity. Our aim was to examine the effect of clinically relevant endophenotyping according to site of maximal joint space narrowing (maxJSN) and bone remodelling response on GWAS signal detection in hip OA.

Methods

A stratified GWAS meta-analysis was conducted in 2118 radiographically defined hip OA cases and 6500 population-based controls. Signals were followed up by analysing differential expression of proximal genes for bone remodelling endophenotypes in 33 pairs of macroscopically intact and OA-affected cartilage.

Results

We report suggestive evidence (p<5×10^-6

SUBMITTER: Panoutsopoulou K 

PROVIDER: S-EPMC5530347 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature