Abstract
Purpose: Genome wide association studies (GWAS) have identified over 100 single nucleotide polymorphisms (SNP) linked to osteoarthritis (OA). Many such SNPs contribute to disease risk by affecting the expression of their target genes, acting as expression quantitative trait loci (eQTL), or by affecting DNA methylation (DNAm), marking methylation QTLs (mQTL). Detection of these QTLs helps to uncover the mechanisms driving the genetic predisposition to OA. A recent GWAS reported a novel OA-risk signal marked by rs1046934 (A>C, minor allele frequency 0.34), located within TSEN15 (tRNA Splicing Endonuclease Subunit 15).
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