MOLECULAR GENETIC AND EPIGENETIC ANALYSIS IDENTIFIES WWP2 AS AN EFFECTOR GENE OF THE OA ASSOCIATION MARKED BY SNP RS34195470

Purpose: Genome-wide association studies (GWAS) have identified over 100 independent single nucleotide polymorphisms (SNPs) which significantly associate with osteoarthritis (OA). Such risk SNPs frequently correlate with differential DNA methylation (DNAm) at CpG dinucleotides (CpGs), known as methylation quantitative trait loci (mQTLs). This change in DNAm can, in turn, exert a functional impact upon expression of target genes at the loci. A GWAS meta-analysis using UK Biobank and Icelandic deCODE datasets reported an OA risk signal on chromosome 16q22.1 marked by the SNP rs34195470 (G>A).