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, Pages 3961-3972 PDF (866.57 K) | ||
| Document Type: Original Article | ||
| DOI: 10.21608/zumj.2024.263496.3121 | ||
| Authors | ||
| Nora Said* 1; Lamiaa Abdel-Wehab2; Mirvat Al toukhy3; Nada Baraka4; asmaa ahmed saad5 | ||
| 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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