Lack of association between TESPA1 gene polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and ankylosing spondylitis in a Chinese population.

We investigated whether TESPA1 gene polymorphisms were associated with increased risk of developing ankylosing spondylitis (AS). We also studied whether TESPA1 gene interacts with environmental factors. A total of 494 patients with AS and 478 matched healthy controls were genotyped for four SNPs (rs1801876, rs2171497, rs4758994, and rs997173) in the TESPA1 gene. We found no evidence of association between these SNPs and AS susceptibility, and between their haplotypes and the disease. But, patients with rs1801876 GA, GG, and AA genotypes had significantly different Bath Ankylosing Spondylitis Functional Index (BASFI) scores (p = 0.023). There were significantly different visual analogue scale (VAS) night pain assessment scores (p = 0.040) and BASFI scores (p = 0.023) among different genotypes at rs2171497 locus. There were also significantly different chest expansion scores (p = 0.042) and Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) scores (p = 0.014) among different genotypes at rs997173 locus. For multiple testing, Bonferroni correction was performed. After Bonferroni correction, clinical characteristics of these three loci showed association between different genotype groups. These findings indicated that the TESPA1 gene is not involved in AS genetic predisposition in the Han Chinese population; however, it may play an important role in the clinical characteristics of AS.