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.
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.
Authors: Rui Zhang; Jianfeng Yao; Peng Xu; Baohu Ji; Géraldine Voegeli; Weikun Hou; Hui Li; Yi Wang; John R Kelsoe; Jie Ma Journal: Int J Clin Exp Med Date: 2015-06-15