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  1. 1
    “…OBJECTIVE: The aim of this study was to characterize the genome-wide DNA methylation profile of chondrocytes from knee and hip cartilage obtained from patients with osteoarthritis (OA) and hip cartilage obtained from patients with femoral neck fracture, providing the first comparison of DNA methylation between OA and non-OA hip cartilage, and between OA hip and OA knee cartilage. …”
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    Characterization of the Cartilage DNA Methylome in Knee and Hip Osteoarthritis
  2. 2
    “…Osteoarthritis (OA) is a polygenic disease of older people resulting in the breakdown of cartilage within articular joints. …”
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    Genetic risk of osteoarthritis operates during human skeletogenesis
  3. 3
    “…BACKGROUND: Despite recent advances in the understanding of the genetic architecture of osteoarthritis (OA), only two genetic loci have been identified for OA of the hand, in part explained by the complexity of the different hand joints and heterogeneity of OA pathology. …”
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    Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene
  4. 4
    “…METHODS: OA patients and controls from three European populations (Greece, Spain and the UK) adding up to 1003 patients (716 women, 287 men) that had undergone total knee joint replacement (TKR) due to severe primary OA and 1543 controls (758 women, 785 men) lacking clinical signs or symptoms of OA were genotyped for the D6S1276 microsatellite in intron 1 of BMP5. …”
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    Association of a BMP5 microsatellite with knee osteoarthritis: case-control study
  5. 5
    “…Osteoarthritis (OA) is a common, multifactorial and polygenic skeletal disease that, in its severest form, requires joint replacement surgery to restore mobility and to relieve chronic pain. …”
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    Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk
  6. 6
    “…RESULTS: We identified 4 novel OA mQTLs. The most significant mQTL contained 9 CpG sites where methylation correlated with OA risk genotype, with 5 of the CpG sites having P values <1 × 10(−10). …”
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    Prioritization of PLEC and GRINA as Osteoarthritis Risk Genes Through the Identification and Characterization of Novel Methylation Quantitative Trait Loci
  7. 7
    “…Osteoarthritis (OA) is a common, painful and debilitating disease of articulating joints resulting from the age-associated loss of cartilage. …”
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    Methylation quantitative trait locus analysis of osteoarthritis links epigenetics with genetic risk
  8. 8
    “…We were keen therefore to assess whether the effect that rs1676486 has on COL11A1 expression in LDH is also observed in OA and whether the rs2615977 association to OA also marked AEI. …”
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    Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues
  9. 9
    “…In both instances, expression of the OA‐associated allele was reduced. In addition, there was reduced enhancer activity of the OA‐associated allele of rs116855380, a SNP in perfect LD with rs6094710 in luciferase assays (P < 0.001). …”
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    Correlation of the Osteoarthritis Susceptibility Variants That Map to Chromosome 20q13 With an Expression Quantitative Trait Locus Operating on NCOA3 and With Functional Variation at the Polymorphism rs116855380
  10. 10
    “…Osteoarthritis (OA) is a common joint disease characterised by the focal loss of the protective cartilage layer at the ends of the bones. …”
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    A consistent and potentially exploitable response during chondrogenesis of mesenchymal stem cells from osteoarthritis patients to the protein encoded by the susceptibility gene GDF5
  11. 11
    “…Osteoarthritis (OA) accounts for more disability among the elderly than any other disease and is associated with an increased mortality rate. …”
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    Translation of clinical problems in osteoarthritis into pathophysiological research goals
  12. 12
    “…We sought to characterise this signal to assess whether the association of rs9350591 with OA is mediated by modulating gene expression. METHODS: Total RNA was extracted from hip or knee cartilage of 161 OA patients and from hip cartilage of 29 non-OA patients who had undergone hip replacements as a result of neck-of-femur (NOF) fractures. …”
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    Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591
  13. 13
    por Reynard, Louise N., Loughlin, John
    Publicado 2013
    “…Epigenetic mechanisms such as DNA methylation also influence OA risk, and integration of genetic, transcriptomic and epigenetic data will allow us to use the genetic discoveries for informed development of new OA biological treatments.…”
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    The genetics and functional analysis of primary osteoarthritis susceptibility
  14. 14
    “…OBJECTIVES: Osteoarthritis (OA) patients with a neuropathic pain (NP) component may represent a specific phenotype. …”
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    Neuropathic pain in the IMI-APPROACH knee osteoarthritis cohort: prevalence and phenotyping
  15. 15
    “…Haplotype analysis and analysis of knee- and hand OA did not give additional information. With the replication studies, the meta-analysis did not show a significant effect of this SNP on hip OA in the total population (OR 1.06, 95% CI 0.99-1.15, p = 0.10). …”
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    Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis
  16. 16
    “…OBJECTIVES: We have previously shown that the cartilage DNA methylome delineates two clusters of osteoarthritic (OA) hip patients, characterised by differential methylation of inflammatory genes, while others have demonstrated a link between zinc homeostasis and inflammation in OA. …”
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    Differential DNA methylation and expression of inflammatory and zinc transporter genes defines subgroups of osteoarthritic hip patients
  17. 17
    por Rodriguez-Fontenla, Cristina, Calaza, Manuel, Evangelou, Evangelos, Valdes, Ana M, Arden, Nigel, Blanco, Francisco J, Carr, Andrew, Chapman, Kay, Deloukas, Panos, Doherty, Michael, Esko, Tõnu, Garcés Aletá, Carlos M, Gomez-Reino Carnota, Juan J, Helgadottir, Hafdis, Hofman, Albert, Jonsdottir, Ingileif, Kerkhof, Hanneke J M, Kloppenburg, Margreet, McCaskie, Andrew, Ntzani, Evangelia E, Ollier, William E R, Oreiro, Natividad, Panoutsopoulou, Kalliope, Ralston, Stuart H, Ramos, Yolande F, Riancho, Jose A, Rivadeneira, Fernando, Slagboom, P Eline, Styrkarsdottir, Unnur, Thorsteinsdottir, Unnur, Thorleifsson, Gudmar, Tsezou, Aspasia, Uitterlinden, André G, Wallis, Gillian A, Wilkinson, J Mark, Zhai, Guangju, Zhu, Yanyan, Felson, David T, Ioannidis, John P A, Loughlin, John, Metspalu, Andres, Meulenbelt, Ingrid, Stefansson, Kari, van Meurs, Joyce B, Zeggini, Eleftheria, Spector, Timothy D, Gonzalez, Antonio
    Publicado 2014
    “…OBJECTIVE: To assess candidate genes for association with osteoarthritis (OA) and identify promising genetic factors and, secondarily, to assess the candidate gene approach in OA. …”
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    Assessment of Osteoarthritis Candidate Genes in a Meta-Analysis of Nine Genome-Wide Association Studies
  18. 18
    “…We observed demethylation of the GDF5 5ʹUTR in OA knee cartilage relative to both OA (p = 0.009) and non-OA (p = 0.001) hip cartilage, with the most significant demethylation observed at the highly conserved +37 CpG site located 4 bp upstream of rs143383. …”
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    CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383
  19. 19
    “…BACKGROUND: Osteoarthritis (OA) is a painful, debilitating disease characterised by loss of articular cartilage with concurrent changes in other tissues of the synovial joint. …”
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    Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874
  20. 20
    “…All 3 SNPs had previously been associated with hip OA. CONCLUSION: These de novo findings suggest that rs4836732, rs6976, and rs5009270 may contribute to hip OA susceptibility by altering proximal femur shape.…”
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    Investigation of Association Between Hip Osteoarthritis Susceptibility Loci and Radiographic Proximal Femur Shape
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