Allelic expression imbalance in articular cartilage and subchondral bone refined genome-wide association signals in osteoarthritis.

ABSTRACT:

Objectives

To present an unbiased approach to identify positional transcript single nucleotide polymorphisms (SNPs) of osteoarthritis (OA) risk loci by allelic expression imbalance (AEI) analyses using RNA sequencing of articular cartilage and subchondral bone from OA patients.

Methods

RNA sequencing from 65 articular cartilage and 24 subchondral bone from OA patients was used for AEI analysis. AEI was determined for all genes present in the 100 regions reported by the genome-wide association studies (GWAS) catalog that were also expressed in cartilage or bone. The count fraction of the alternative allele (φ) was calculated for each heterozygous individual with the risk SNP or with the SNP in linkage disequilibrium (LD) with it (r2 > 0.6). Furthermore, a meta-analysis was pe

SUBMITTER: Coutinho de Almeida R 

PROVIDER: S-EPMC10070069 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature