Genetic contribution to osteoarthritis development: current state of evidence

Current Opinion in Rheumatology
John Loughlin

Abstract

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. 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. Osteoarthritis genetic risk predominantly acts by modulating gene expression, an effect typically mediated via transcriptional regulation. Effects on various pathways have been detected, ...Continue Reading

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Citations

Jun 30, 2016·Orphanet Journal of Rare Diseases·Beth G Gibson, Michael D Briggs
Nov 4, 2016·Annals of Biomedical Engineering·Ryan T Lewinson, Darren J Stefanyshyn
Mar 21, 2017·Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society·Alan J MuellerPeter D Clegg
Jun 2, 2017·Nature Reviews. Rheumatology·Stephen EyreJane Worthington
Feb 8, 2018·Post Reproductive Health·Fiona E Watt
Jan 10, 2018·Annals of the Rheumatic Diseases·Steven K PregizerTerence D Capellini
Jun 2, 2018·Connective Tissue Research·Javier Fernández-TorresYessica Zamudio-Cuevas
Sep 28, 2018·Expert Review of Endocrinology & Metabolism·Fabio MainoMaria Grazia Castagna
Apr 17, 2018·Human Molecular Genetics·Michael J JurynecDavid Jonah Grunwald
Aug 23, 2019·Der Orthopäde·Mark Tauber, Frank Martetschläger
Jul 15, 2020·Scandinavian Journal of Surgery : SJS : Official Organ for the Finnish Surgical Society and the Scandinavian Surgical Society·Thomas IbounigMika Paavola
Aug 16, 2019·Tissue Engineering and Regenerative Medicine·Yun-Rak ChoiFarshid Guilak
Oct 18, 2016·Current Opinion in Rheumatology·Yolande F M Ramos, Ingrid Meulenbelt
Oct 13, 2017·Journal of Orthopaedic Surgery and Research·Ruoxi LiuShibi Lu
Jan 19, 2019·Advances in Rheumatology·Norma Celia González-HuertaAntonio Miranda-Duarte
Jan 5, 2020·BMC Medical Genomics·Xiaozong LinLimei Wang
Jan 15, 2020·Scientific Reports·Karolina KaniaCosimo De Bari
May 29, 2019·Journal of Functional Morphology and Kinesiology·Silvia RavalliGiuseppe Musumeci
May 1, 2021·International Journal of Molecular Sciences·Virginia Veronica ViscontiAnnalisa Botta
Apr 27, 2019·ACS Applied Materials & Interfaces·Huijun YeGeorge W Greene

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