A Study of the Association of Polymorphism rs5860110 and its Protective Role against Ankylosing Spondylitis in a Chinese Population
AbstractPurpose: To investigate whether secreted phosphoprotein-1iSPP1j promoter variants are associated with susceptibility to ankylosing spondylitis (AS) in the western China.
Methods: The rs5860110 variant of SPP1 promoter was genotyped using direct sequencing in 120 unrelated AS patients and 106 ethnically matched healthy controls. All the patients were human leukocyte antigen iHLAj-B27 positive. Frequencies of different genotypes and alleles were analyzed
among the AS patients and the controls.
Results: In AS patient group, frequency of +254 SPP1 promoter genotype was 0.483 in base TG/TG homozygotes and 0.517 in TG-(deletion)/TG-(deletion) homozygotes, while the values for the control group were 0.311 and 0.689, respectively. However, TG-(deletion)/TG heterozygote was not detected in this study. The rs5860110 single nucleotide polymorphism (SNP) in SPP1 was significantly different when all AS patients were compared to controls (p < 0.01).
Conclusion: The rs5860110 SNP in SPP1 has a protective role against AS in the selected Chinese population.
Keywords: Polymorphism, Ankylosing spondylitis, Secreted phosphoprotein-1, Sequencing, Genotype, Alleles
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