Association of the genetic variants in the endoplasmic reticulum aminopeptidase 2 gene with ankylosing spondylitis susceptibility

Background Genetic polymorphisms in the endoplasmic reticulum aminopeptidase gene ERAP2 has been attributed with etiopathogenesis of ankylosing spondylitis (AS). Here we assessed association single nucleotide (SNPs) AS predisposition Iranian patients and determined their effect on inflammatory state patients. Methods For genotyping rs2548538, rs2287988, rs17408150 SNPs using a real-time allelic discrimination approach, DNA was extracted from whole blood 250 healthy individuals. RNA peripheral mononuclear cells separated, cDNA synthesized, transcriptional levels cytokines, including interleukin (IL)-17A, IL-23, IL-10, transforming growth factor-?, were measured. Enzyme-linked immunosorbent assay used to measure serum concentration cytokines. Results Three not associated significantly risk. Nonetheless, rs2287988 showed statistically significant susceptibility disease those who positive for human leukocyte antigen (HLA)-B27. Transcriptional level IL-17A IL-23 higher, but IL-10 lower both HLA-B27-positive patient group relative control group. Nevertheless, did affect transcription Conclusions are AS, they probably determining IL-17A, this disease.