Role of endoplasmic reticulum aminopeptidase-1 gene polymorphism (rs13167972) in occurrence susceptibility of ankylosing spondylitis in a sample of Iraqi male patients

• Published in: Molecular biology reports 2024-12, Vol.51 (1), p.462-462, Article 462
• Main Authors: Hassan, Sumyah Hussein, Auda, Ibtesam Ghadban, Ali, Ekhlass N., Alosami, Mohammed Hadi, Hussein, Ranya H.
• Format: Article
• Language: English
• Subjects: 3' Untranslated regions; Adult; Alleles; Aminopeptidase; aminopeptidases; Aminopeptidases - genetics; Animal Anatomy; Animal Biochemistry; Ankylosing spondylitis; Arthritis; Autoimmune diseases; Biomedical and Life Sciences; Blood Group Antigens; Blood group O; Blood groups; blood serum; Body mass index; C-reactive protein; disease incidence; Endoplasmic Reticulum; Erythrocyte sedimentation rate; Gene polymorphism; genetic polymorphism; Genetic Predisposition to Disease; Genotyping; Histology; Humans; Iraq - epidemiology; Life Sciences; Magnetic resonance imaging; magnetism; Male; Males; Minor Histocompatibility Antigens - genetics; Morphology; Original Article; overweight; patients; peptides; Polymorphism; Polymorphism, Single Nucleotide - genetics; Risk factors; Spondylitis, Ankylosing - diagnosis; Spondyloarthropathy; Young Adult
• ISSN: 0301-4851; 1573-4978
• DOI: 10.1007/s11033-024-09438-0

Background Ankylosing spondylitis (AS) is a chronic and systemic seronegative inflammatory spondyloarthropathy, an autoimmune disease that has been associated with impaired Endoplasmic Reticulum Aminopeptidase (ERAP)-1 activity, which is involved in priming antigenic peptides. The purpose of this study is to investigate the association of 3 -UTR of ERAP1 gene polymorphism (rs13167972) with the AS occurrence susceptibility in a sample of Iraqi male patients. Methods The AS patients were diagnosed clinically and by magnetic resonance imaging (MRI) and other clinical and laboratory criteria like symptoms, increased C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR). The blood grouping and Body Mass Index (BMI) were also investigated to be associated with AS occurrence. The genotyping of the 3− UTR region of the ERAP1 gene (rs13167972) was done by Sanger sequencing. Results The results revealed that the AS occurred significantly in the age group of 20–35 years (p = 0.013). The BMI shows that the AS patients were overweighted males (p = 0.013) and the most predominant blood group in AS patients was O- (p = 0.002). The ESR and serum level of CRP were significantly raised in AS patient sera (