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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 hand …
↵* Joint first authors.
This work was supported by a grant from the Bundesministerium für Bildung und Forschung (BMBF) to AW, and from the Deutsche Forschungsgemeinschaft (DFG) to OP and BS.
Competing interests: None.