Journal
CURRENT OPINION IN RHEUMATOLOGY
Volume 27, Issue 3, Pages 284-288Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/BOR.0000000000000171
Keywords
ALDH1A2; DNA methylation; genetic association; NCOA3; single-nucleotide polymorphism
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Funding
- Arthritis Research UK
- UK Medical Research Council
- Dr William Harker Foundation
- NIHR Newcastle Biomedical Research Centre
- European Union [305815]
- Versus Arthritis [20028, 19953, 19824] Funding Source: researchfish
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Purpose of review Powerful association studies have identified a number of genetic signals that can be confidently judged as associated with osteoarthritis. Efforts have continued to discover new loci, whilst functional studies are being applied to assess which genes are the likely targets of the risk-conferring alleles. The study of epigenetics has highlighted an interaction between osteoarthritis genetics and DNA methylation. This review will summarize some of the recent key studies in osteoarthritis genetics, including functional and epigenetic analyses. Recent findings Several novel osteoarthritis susceptibility loci have been reported recently, including the regulatory genes NCOA3 and ALDH1A2. Functional analyses of these genes and of others reported previously support earlier suggestions that osteoarthritis susceptibility is principally mediated by modulations to gene expression. DNA methylation analyses provide additional insights into the osteoarthritis disease process, at both a genome-wide level and when investigating direct interactions with risk-conferring alleles. Summary Osteoarthritis genetic risk predominantly acts by modulating gene expression, an effect typically mediated via transcriptional regulation. Effects on various pathways have been detected, including cell differentiation and cartilage homeostasis. The continued identification of risk loci, their functional study, and the unification of genetic and epigenetic analyses will be key themes in the future.
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