Abstract:

Objective   To validate the association of ERAP1 gene polymorphisms with ankylosing spondylitis (AS) in the northern Han Chinese population． Methods   311 AS patients and 320 healthy controls from Shandong Provincial hospital were enrolled in this case-control association study．The Taqman SNP genotyping method was used to genotype 2 SNPs：rs7711564 and rs27434 in the ERAP1 gene．The differences of allele and genotype frequencies were analyzed using PLINK 1.07．Results   The distributions of the 2 SNPs were in Hardy Weinberg equilibrium (P>0.05) for both patients and controls.  The allelic and genotypic distributions of the 2 SNPs were significantly different in the case and control groups. The risk of AS was increased with the C allele of rs7711564 (OR=1.26，P=0.04) and the A allele of rs27434 (OR=0.78，P=0.03). Conclusions   The genetic variation of the ERAP1 gene may be associated with ankylosing spondylitis in the northern Han Chinese population，and the results confirmed ERAP1 is a susceptible gene for ankylosing spondylitis.

Key words: Ankylosing spondylitis； ERAP1 gene； Association study； Chinese Han