Abstract
Purpose: Osteoarthritis (OA) is characterized by focal areas of loss of articular cartilage in synovial joints, associated with varying degrees of osteophyte formation, subchondral bone change, and synovitis. The Calmodulin 1 gene (CALM1) encodes for a ubiquitous eukaryotic Ca2+ binding protein and is the principal mediator of the calcium signal. The protein thus affects the chondrocyte's response to mechanical load. A functional core promoter single nucleotide polymorphism (SNP) −16C/T (rs12885713) was recently associated with hip OA (HOA) in the Japanese population, while no association was found in a British group of patients with HOA. Our objective was to assess whether this SNP was also associated with knee OA (KOA) in a Greek Caucasian population sample. Methods: The −16T/C SNP was genotyped in a 351 case–control cohort—158 patients with idiopathic KOA and 193 controls. Results: No significant differences were found in genotype frequencies for the −16T/C SNP of CALM1 gene between cases and controls (p = 0.581). Conclusion: Our data implied that the −16TT (rs12885713) CALM1 core promoter genotype is not a risk factor for OA etiology in Greek Caucasians on its own, but associated with the Asporin (ASPN) D14 or D15 risk allele, it could influence KOA susceptibility.
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