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MATN3 (matrilin-3) sequence variation (pT303M) is a risk factor for osteoarthritis of the CMC1 joint of the hand, but not for knee osteoarthritis
  1. O Pullig1,*,
  2. A Tagariello2,*,
  3. A Schweizer2,
  4. B Swoboda1,
  5. P Schaller3,
  6. A Winterpacht2
  1. 1Division of Orthopaedic Rheumatology, Department of Orthopaedic Surgery, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany
  2. 2Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany
  3. 3Department of Hand and Plastic Surgery, Kliniken Dr Erler GmbH, Nuremberg, Germany
  1. Correspondence to:
    Dr Prof A Winterpacht
    Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Schwabachanlage 10, Erlangen 91054, Germany; winterp{at}humgenet.uni-erlangen.de

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Osteoarthritis has a multifactorial aetilogy with a strong genetic component.1,2 Recently, Stefansson et al3 identified a missense mutation (pT303M) in the MATN3 (matrilin-3) gene (designated as single-nucleotide polymorphism (SNP)5) in a large cohort of patients from Iceland, which cosegregates with hand osteoarthritis in several families and shows a frequency of approximately 2% in the Icelandic population (relative risk 2.1). Min et al4 were not able to repeat this result in two Dutch cohorts of patients with hand osteoarthritis, but reported association of this SNP with spinal disc degeneration in one of their populations (odds ratio 2.9). In contrast, they found that the A allele of SNP6 (nomenclature as in Stefansson et al3), a silent base exchange in MATN3, is associated with …

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