Polymorphism of the Endoplasmic Reticulum Aminopeptidase 1 Gene in Egyptian Patients with Rheumatoid Arthritis

Said, Nora; Abdel-Wehab, Lamiaa; Al toukhy, Mirvat; Baraka, Nada; saad, asmaa ahmed

doi:10.21608/zumj.2024.263496.3121

	Polymorphism of the Endoplasmic Reticulum Aminopeptidase 1 Gene in Egyptian Patients with Rheumatoid Arthritis
Zagazig University Medical Journal
Article 21, Volume 30, Issue 8.1, November 2024, Page 3961-3972 PDF (866.57 K)
Document Type: Original Article
DOI: 10.21608/zumj.2024.263496.3121
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Authors
Nora Said ¹; Lamiaa Abdel-Wehab²; Mirvat Al toukhy³; Nada Baraka⁴; asmaa ahmed saad ⁵
¹assistant professor clinical pathology,faculty of medicine departement,zagazig university
²Department of Clinical Pathology, Faculty of Medicine - Zagazig University, Egypt
³Professor of Rheumatology and Rehabilitation, Faculty of Medicine, Zagazig University
⁴clinical pathology,faculty of medicine departement,zagazig university
⁵lecturer clinical pathology department faculty of medicine zagazig university
Abstract
Background: Rheumatoid arthritis (RA) is a systemic autoimmune disease caused by the interplay of hereditary and environmental factors. Extreme polymorphism is assumed for the Endoplasmic Reticulum Aminopeptidase 1 Gene Polymorphism (ERAP1) gene. ERAP1 single-nucleotide polymorphisms (SNPs) profoundly modify its immunological, clinical, and biochemical features. The purpose of the study is to ascertain how ERAP1 Gene single-nucleotide polymorphisms (SNPs) affect RA susceptibility, disease activity, and severity. Patients and methods: In all, 98 subjects 49 RA patients and 49 healthy volunteers were enrolled in the study. Real-time PCR was used to genotype all subjects for the ERAP1 SNPs (rs27037, rs27044, and rs30187). Results: With reference to rs27037, the T allele, the TT and GT genotypes were linked to an increased risk of RA (P < 0.001, P 0.006 and P 0.002, respectively). In relation to rs30187, RA risk was higher in those with TT, CT, and T alleles than in the healthy controls. The risk genotypes TT and GT of rs27037 (P 0.02 and P 0.03, respectively) were linked to anticitrullinated antibody seropositivity. On the other hand, the risk genotypes TT and CT of rs30187 were associated with rheumatoid factor seropositivity (P<0.001 for both). Conclusion: Our study showed that rs27037 and rs30187, two ERAP1 SNPs, increase the incidence of seropositive RA.
Keywords
Rheumatoid arthritis; ERAP1; autoimmunity; genetic predisposition


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