ISSN: 2161-1149 (Printed)
Objectives: Although the exact cause of ankylosing spondylitis (AS) is unknown, genetics play a key role in AS. A recent genome-wide association study identified new immune-related susceptibility loci for AS in East Asians, and these need to be validated in the Chinese population.
Methods: We enrolled 848 patients who met the modified New York criteria for AS and 1123 healthy normal controls in the present study. High-resolution melting analysis accompanied with sequencing was carried out to genotype five polymorphisms: rs12615545, rs4676410, rs1250550, rs2531875, and rs7282490. Distributions of genotypes and alleles were compared between AS patients and healthy controls, and among AS patients stratified by clinical parameters, age, and gender.
Results: rs4676410 (p=0.0237; odds ratio (OR): 1.109; 95% confidence interval (CI): 1.014–1.213) and rs2531875 (p=0.0308; OR: 1.117; 95% CI: 1.01–1.234) were both associated with the risk of AS. However, no association was found between the studied polymorphisms and AS severity. An association between the rs4676410T allele and iridocyclitis was observed (p=0.0142; OR: 1.403; 95% CI: 1.11–1.774).
Conclusion: rs4676410 and rs2531875 are associated with AS susceptibility in the Han Chinese population. The rs4676410T allele might be correlated with iridocyclitis.