Article
Identification of TMEM129, encoding a ubiquitin-protein ligase, as an effector gene of osteoarthritis genetic risk.
Arthritis research & therapy - 8 Aug 2022
Brumwell Abby, Aubourg Guillaume, Hussain Juhel, Parker Eleanor, Deehan David J, Rice Sarah J, Loughlin John
Abstract excerpt
BACKGROUND: Osteoarthritis is highly heritable and genome-wide studies have identified single nucleotide polymorphisms (SNPs) associated with the disease. One such locus is marked by SNP rs11732213 (T > C). Genotype at rs11732213 correlates with the methylation levels of nearby CpG dinucleotides (CpGs), forming a methylation quantitative trait locus (mQTL). This study investigated the regulatory activity of the...
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