Zohreh Babaloo
Tabriz University of Medical Sciences, Iran
Title: Molecular analysis of ERAP1 allelic variations in patients with ankylosing spondylitis
Biography
Biography: Zohreh Babaloo
Abstract
Background: Ankylosing spondylitis (AS) is a chronic inflammatory arthritis; a type of seronegative spondyloarthropathies. AS typically affects the joints of the spinal and axial skeleton. Among the non-HLA predisposing loci, the strongest association has been observed for single nucleotide polymorphisms (SNPs) of endoplasmic reticulum amino peptidase ERAP1 gene. ERAP1 reduces the ability of signal transmission by cleaving cytokine receptors which affects the inflammation process. It also causes cleavage of some cell proteins into small peptides which exported to the cell surface, where they attach to MHC class I molecules and trigger an autoimmune response.
Methods: In this study the frequencies of ERAP1 allelic variants and genotypes for three non-synonymous SNPs have been determined in 160 AS patients and 160 healthy individuals, as control group, from an Iranian population in north-west Iran. Both AS patients and healthy control groups consist HLA-B27 positive and HLA-B27 negative individuals. The implemented method was SSP-PCR for genotyping three SNPs of ERAP1 gene including rs30187, rs2287987, and rs10050860 in AS patients and healthy controls.
Results: Our investigation showed considerable differences in alleles frequencies within AS patients vs. healthy controls. The association of three SNPs; rs30187, rs2287987, and rs10050860 with the risk of AS [odds ratio (OR) 0.775, 95% CI 0.566–1.06, P=0.12 for rs30187, OR 0.561, 95% CI 0.359–0.877, P=0.01 for 10050860 and OR 1.91, 95% CI 1.16-3.15, P=0.014 for rs2287987] was the most important result of this study.
Conclusion: The ERAP1 gene polymorphisms are associated with ankylosing spondylitis (AS) pathogenesis and could be considered as risk factors of this autoimmune disease.