Determination of ETS1 gene single nucleotide polymorphism in Iranian patients with ankylosing spondylitis

Ankylosing spondylitis (AS) isan inflammatory arthritis with unknown etiology. AS mostly affects the axial skeleton and peripheral joints. The genetic contribution is believed to be a major attributable reason of overall susceptibility to AS. ETS1, also known as the avian erythroblastosis virus E26 (v-ets) oncogene homolog-1 gene, is essential in the development of immune cells in both adaptive and innate immunity. This study investigated the association of single nucleotide polymorphisms (SNPs) in the ETS1 gene (rs1128334 and rs10893872) with ankylosing spondylitis in Iranian population. The study samples comprised 495 AS patients and 490 controls. All samples were selected from the Iranian population. Two SNPs were chosen from the ETS1 gene (rs1128334 and rs10893872), and their association with AS was examined by applying the Real-time PCR allelic discrimination method. The results showed no significant associations between rs1128334 and rs10893872 SNPs and the risk of AS. However, the association between rs10893872 and the Bath Ankylosing Spondylitis Functional Index (BASFI) was significant (p=0.02) after Bonferroni correction, while BASFI was significantly increased in cases with CT in comparison to CC genotype. The results of this study on the Iranian population did not confirm the association of the ETS1 gene SNPs with AS susceptibility; however, the association was significant in Han Chinese populations. The diversity in results among different populations is common in gene association studies of multifactorial diseases. Further investigations will be needed to identify other risk variants of the ETS1 genewhich are correlated with AS susceptibility.