Multi-tissue epigenetic analysis of the osteoarthritis susceptibility locus mapping to the plectin gene PLEC

Osteoarthritis (OA) associated single nucleotide polymorphism (SNP) rs11780978 correlates with differential expression of PLEC, and methylation quantitative trait loci (mQTLs) at PLEC CpGs in cartilage. This implies that methylation links chondrocyte genotype and phenotype, thus driving the functional effect. PLEC encodes plectin, a cytoskeletal protein that enables tissues to respond to mechanical forces. We sought to assess whether PLEC functional effects were cartilage specific.
Source: Osteoarthritis and Cartilage - Category: Rheumatology Authors: Source Type: research