title: Association of the CALM1 core promoter polymorphism with knee osteoarthritis in patients of Greek origin.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.affiliation: Department of Medical Genetics, Athens University, Aghia Sophia Children's Hospital, Athens, Greece.
authors.forename: Myrto
authors.initials: M
authors.lastname: Poulou
authors.forename: Marios
authors.initials: M
authors.lastname: Kaliakatsos
authors.forename: Aspasia
authors.initials: A
authors.lastname: Tsezou
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Konstantinos N
authors.initials: KN
authors.lastname: Malizos
authors.forename: Maria
authors.initials: M
authors.lastname: Tzetis
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002147:Calmodulin / Q000235:genetics*; D016022:Case-Control Studies; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006115:Greece / Q000208:ethnology; D006801:Humans; D008297:Male; D008875:Middle Aged; D020370:Osteoarthritis, Knee / Q000208:ethnology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012307:Risk Factors; D044465:White People / Q000235:genetics*
chemical_list: C439889:ASPN protein, human; D002147:Calmodulin; D016326:Extracellular Matrix Proteins