Genetic factors have been shown to play an important role in the etiology of osteoarthritis (OA). A functional single nucleotide polymorphism (SNP) +104T/C; rs143383 in the 5' UTR of the GDF5 gene was recently associated with susceptibility to osteoarthritis in the Japanese and Chinese population. Our objective was to assess whether this SNP was also associated with knee OA in a Greek Caucasian population sample. The +104T/C SNP was genotyped in a total of 519 case-control cohort; 251 patients with idiopathic knee OA and 268 controls were used. No significant differences were found in genotype or allele frequencies of the +104T/C SNP of GDF5 gene between cases and controls (p < 0.05). Also, no significant differences in allelic and genotypic frequencies were found when the individuals were stratified by sex. Our data implied that the +104T/C; rs143383 GDF5 core promoter polymorphism is not a risk factor for OA etiology in Greek Caucasians. Our study highlights the heterogeneous nature of OA genetic susceptibility.
(c) 2007 Orthopaedic Research Society.