ArticleArthritis & rheumatology (Hoboken, N.J.)2015
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.
Article in Arthritis & rheumatology (Hoboken, N.J.), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Monoallelic Gene Expression: Stochastic or Clonal? From Detection to Mechanisms and Clinical Significance.International journal of molecular sciences · 2026Review
- Interplay between AIB1 genotypes and radiotherapy in a Swedish population-based breast cancer cohort.Discover oncology · 2026Article
- A MGMT Enhancer Variant is Associated with Glioma Susceptibility and Progression.Cellular and molecular neurobiology · 2025Article
- Protective role of circRNA CCND1 in ulcerative colitis via miR-142-5p/NCOA3 axis.BMC gastroenterology · 2023Article
- Genetics of osteoarthritis.Osteoarthritis and cartilage · 2022Review
- Inhibition of nuclear receptor RORα attenuates cartilage damage in osteoarthritis by modulating IL-6/STAT3 pathway.Cell death & disease · 2021Article
- NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.Human molecular genetics · 2021Article
- Multi-tissue epigenetic analysis of the osteoarthritis susceptibility locus mapping to the plectin gene PLEC.Osteoarthritis and cartilage · 2020Article
- A novel variant near LSP1P3 is associated with knee osteoarthritis in the Chinese population.Clinical rheumatology · 2020Article
- Interplay between genetics and epigenetics in osteoarthritis.Nature reviews. Rheumatology · 2020Review
- Expression analysis of the osteoarthritis genetic susceptibility mapping to the matrix Gla protein gene MGP.Arthritis research & therapy · 2019Article
- Functional testing of thousands of osteoarthritis-associated variants for regulatory activity.Nature communications · 2019Article
- Annotating Transcriptional Effects of Genetic Variants in Disease-Relevant Tissue: Transcriptome-Wide Allelic Imbalance in Osteoarthritic Cartilage.Arthritis & rheumatology (Hoboken, N.J.) · 2019Article
- Functional Characterization of the Osteoarthritis Genetic Risk Residing at ALDH1A2 Identifies rs12915901 as a Key Target Variant.Arthritis & rheumatology (Hoboken, N.J.) · 2018Article
- Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk.Human molecular genetics · 2018Article
- Identification of key genes associated with the effect of osmotic stimuli on intervertebral discs using microarray analysis.Oncology letters · 2017Article
- The genetics revolution in rheumatology: large scale genomic arrays and genetic mapping.Nature reviews. Rheumatology · 2017Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo functionally characterize the osteoarthritis (OA) susceptibility variants that map to a region of high linkage disequilibrium (LD) on chromosome 20q13 marked by the single-nucleotide polymorphism (SNP) rs6094710 and encompassing NCOA3 and SULF2.
methodsNucleic acids were extracted from the cartilage of OA patients. Overall and allelic expression of NCOA3 and SULF2 were measured by quantitative reverse transcription-polymerase chain reaction and pyrosequencing, respectively. The functional effect of SNPs within the 20q13 locus was assessed in vitro using luciferase reporter constructs and electrophoretic mobility shift assays (EMSAs). The in vivo effect of nuclear receptor coactivator 3 (NCOA3) protein depletion on primary human OA articular cartilage chondrocytes was assessed using RNA interference.
resultsExpression of NCOA3 correlated with the genotype at rs6094710 (P = 0.006), and the gene demonstrated allelic expression imbalance (AEI) in individuals heterozygous for the SNP (mean AEI 1.21; P < 0.0001). 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). EMSAs demonstrated a protein complex binding with reduced affinity to this allele. Depletion of NCOA3 led to significant changes (all P < 0.05) in the expression of genes involved in cartilage homeostasis.
conclusionNCOA3 is subject to a cis-acting expression quantitative trait locus in articular cartilage, which correlates with the OA association signal and with the OA-associated allele of the functional SNP rs116855380, a SNP that is located only 10.3 kb upstream of NCOA3. These findings elucidate the effect of the association of the 20q13 region on OA cartilage and provide compelling evidence of a potentially causal candidate SNP.
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