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.
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