Abstract

POLYMORPHISM IN ENDOPLASMIC RETICULUM AMINOPEPTIDASE-L (ERAP1) GENE IN IRAQI PATIENTS WITH ANKYLOSING SPONDYLITIS

Muataz Mohammed Al-Taee*, Hameed Majeed Jassim, Mohammed Hadi Alosami

Abstract

Ankylosing spondylitis (AS) is a common, highly heritable inflammatory arthritis affecting primarily the spine and pelvis. This study was aimed to investigate the relationship between the genetic polymorphism in Endoplasmic reticulum aminopeptidase-1 (ERAP1) gene in the position 96144608 for rs27044 SNP in exon15 within chromosome 5 with the susceptibility and severity of the disease in a sample of Iraqi patients, as this SNP was regarded as a major risk factor associated with incidence of AS . A total of 35 blood samples (25 AS patients and 10 healthy controls) were recruited in this study. Genomic DNA was extracted from those blood samples, and it was found that the concentration of extracted DNA was ranged between 200-400 pg/ml with purity of 1.8-2.0. Exon 15 of ERAP1 was amplified by using specific primers designed in this study. Results of amplification showed that a single DNA fragment of 298 bp was obtained after electrophoresis on 2% agarose gel represents the complete nucleotide sequence of exon 15. To investigate the genetic polymorphism in this exon, the nucleotide sequence for the amplified fragment was determined. Results of sequencing showed that the single nucleotide polymorphism in position 96144608 for the rs27044 was cSNP in all healthy controls group, while gSNP was found in 64% polymorphic AS patients with a significant difference than non-polymorphic AS patients (36%), which refers that this variation was regarded as a risk factor associated with the susceptibility of AS in a sample of Iraqi population.

Keywords: Endoplasmic reticulum aminopeptidase-1 (ERAP1) gene.