Genetic Polymorphisms of Osteopontin in Association with Ankylosing Spondylitis in a Chinese Population

Purpose: To determine the association of osteopontin (OPN) polymorphisms with ankylosing spondylitis (AS).
Methods: A total of 120 cases diagnosed with AS and 106 age- and sex-matched healthy controls were recruited. All the patients were human leukocyte antigen (HLA)-B27 positive. Three single nucleotide polymorphisms were genotyped using direct sequencing
Results: The T allele at -443 SNP had significantly higher frequency in AS patients (0.1875) than the controls (0.1085, p < 0.01). The rate of CT+TT genotype in AS patients was significantly higher than those with CC genotype compared with the control (p < 0.01).
Conclusion: SNP at -443 of OPN gene can serve as a candidate genetic marker to evaluate the risk of AS, thus indicating that subjects who carry T allele have a significantly higher risk of developing AS.