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Subject Area

Ophthalmology

Article Type

Original Study

Abstract

Objective To evaluate the role of hypoxia-inducible factor 1 alpha (HIF-1α) rs12434438 gene polymorphism in susceptibility to rheumatoid arthritis (RA) in Egyptian patients and its relation to the severity of the disease. Background RA is a systemic autoimmune inflammatory disease, has remission and exacerbation cycles with a genetic and environmental predisposition. Synovial hypoxia of the inflamed joints has a role in reinforcing synovial inflammation and in a synovial prearthritic stage. HIF-1α participates in the pathogenesis of RA through its overexpression in the synovial lining and stroma cells and initiation of major changes in gene expression associated with arthritis processes like angiogenesis or T-cell differentiation. Patients and methods In this case–control study, real-time PCR allelic discrimination assay was used to genotype the HIF-1α gene rs12434438 A/G polymorphism in 180 subjects divided into two groups. Group I: 90 RA patients and group II: 90 healthy controls. Results GG genotype of HIF-1α rs12434438 was significant in controls (P < 0.001). While AA genotype and A allele were frequent in RA patients. The parameters of disease activity were higher in the HIF-1α rs12434438 AA genotype compared with RA patients with GG genotype. Conclusion Current findings indicated that the AA genotype of HIF-1α (rs12434438) could play a role in susceptibility to RA in Egyptian patients and related to disease severity. While the GG genotype may have a protective effect.

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