ArticleAmerican journal of human genetics2003
Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 4 of them syntheses that pooled it.
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Who cites it
61 citing papers in PubMed, 4 syntheses or guidelines pooled it, 178 citations in OpenAlex.
- Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies.Arthritis & rheumatology (Hoboken, N.J.) · 2014Pooled it
- Research in hand osteoarthritis: time for reappraisal and demand for new strategies. An opinion paper.Annals of the rheumatic diseases · 2007Pooled it
- Osteoarthritis susceptibility loci defined by genome scan meta-analysis.Rheumatology international · 2006Pooled it
- Osteoarthritis susceptibility loci defined by genome scan meta-analysis.Rheumatology international · 2006Pooled it
- Hand Osteoarthritis: Molecular Mechanisms, Randomized Controlled Trials, and the Future of Targeted Treatment.International journal of molecular sciences · 2025Review
- Familial Clustering and Genetic Analysis of Severe Thumb Carpometacarpal Joint Osteoarthritis in a Large Statewide Cohort.The Journal of hand surgery · 2022Article
- Osteoarthritis year in review: genetics, genomics, epigenetics.Osteoarthritis and cartilage · 2022Review
- Articular Cartilage Regeneration in Veterinary Medicine.Advances in experimental medicine and biology · 2022Article
- Familial Clustering of Erosive Hand Osteoarthritis in a Large Statewide Cohort.Arthritis & rheumatology (Hoboken, N.J.) · 2021Article
- Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).Bone reports · 2020Article
- A single-nucleotide polymorphism (rs8176070) of lncRNA PART1 may reflect the risk for knee osteoarthritis.European journal of rheumatology · 2020Article
- Mice Lacking the Matrilin Family of Extracellular Matrix Proteins Develop Mild Skeletal Abnormalities and Are Susceptible to Age-Associated Osteoarthritis.International journal of molecular sciences · 2020Article
- Hand osteoarthritis: clinical phenotypes, molecular mechanisms and disease management.Nature reviews. Rheumatology · 2018Review
- Downregulation of microRNA-448 inhibits IL-1β-induced cartilage degradation in human chondrocytes via upregulation of matrilin-3.Cellular & molecular biology letters · 2018Article
- Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans.Frontiers in genetics · 2018Article
- Clinical significance of Matrilin-3 gene polymorphism in Egyptian patients with primary knee osteoarthritis.European journal of rheumatology · 2017Article
- Agonists and Antagonists of TGF-β Family Ligands.Cold Spring Harbor perspectives in biology · 2016Review
- Matrilin-3 Role in Cartilage Development and Osteoarthritis.International journal of molecular sciences · 2016Review
- Cartilage damage in osteoarthritis and rheumatoid arthritis--two unequal siblings.Nature reviews. Rheumatology · 2015Review
- Characterization of recombinantly expressed matrilin VWA domains.Protein expression and purification · 2015Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteoarthritis (OA) is the most common human joint disease, characterized by loss and/or remodeling of joint synovium, cartilage, and bone. Here, we describe a genomewide linkage analysis of patients with idiopathic hand OA who were carefully phenotyped for involvement of either or both the distal interphalangeal (DIP) joints and the first carpometacarpal (CMC1) joints. The best linkage peaks were on chromosomes 4q and 3p and on the short arm of chromosome 2. Genomewide significance was reached for a locus on chromosome 2 for patients with affected CMC1 joints (LOD = 4.97); this locus was also significant for patients with OA in both CMC1 and DIP joints (LOD = 4.44). The peak LOD score at this locus coincides with a gene, MATN3, encoding the noncollagenous cartilage extracellular matrix protein, matrilin-3. Subsequent screening of the genomic sequence revealed a missense mutation, of a conserved amino acid codon, changing threonine to methionine in the epidermal growth factor-like domain in matrilin-3. The missense mutation cosegregates with hand OA in several families. The mutation frequency is slightly more than 2% in patients with hand OA in the Icelandic population and has a relative risk of 2.1.
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