Association of IL-10 gene promoter polymorphisms with susceptibility to pseudoexfoliation syndrome, pseudoexfoliative and primary open-angle glaucoma

Abstract

Background: The involvement of cytokines in pathogenesis of pseudoexfoliation syndrome and glaucoma has been demonstrated in several studies. The aim of the present study was to explore the association between three promoter polymorphisms −592C/A (rs1800872), − 819C/T (rs1800871) and -1082A/G (rs1800896) of interleukin 10 (IL-10) gene with susceptibility to pseudoexfoliation syndrome (PEX), pseudoexfoliative glaucoma (PEXG), and primary open-angle glaucoma (POAG).Methods: In this study, 114 PEX, 118 PEXG, 114 POAG patients and 126 healthy individuals from Iranian population were participated. Detailed ophthalmic examinations by an ophthalmologist including slit-lamp bio-microscopic examination, dilated examination of the lens, gonioscopy, and funduscopy were carried out on patients and controls. Genomic DNA was extracted from the blood samples and ARMS-PCR was performed to detect promoter polymorphisms of IL-10.Results: In all three SNPs studied, there was a significant difference in the genotype distribution between patients and control subjects. Results revealed that the AA genotype of IL-10 -592C/A SNP is associated with PEX. However, TT genotype of −819C/T and AA genotype of -1082A/G SNP are significantly associated with susceptibility to either PEX or PEXG and POAG disorders. Furthermore, the ACC haplotype containing the IL-10 -1082A allele was associated with PEX (P = 0.02, OR = 5.76, 95% CI = 5.17-24.49), PEXG (P = 0.006, OR = 7.54, 95% CI = 6.62-30.76) and POAG (P = 0.003, OR = 8.11,. Conclusions:Our results demonstrated that IL-10 gene promoter polymorphisms are associated with susceptibility to PEX, PEXG and POAG in Iranian population. Considering the fact that IL-10 polymorphisms are associated with various IL-10 expressions, further research is needed to explain its involvement in these disorders and the formation of extracellular fibrillar amyloid deposits in PEX and PEXG.

Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations

“…Individual SNPs for other genes, including the SIX1/SIX6 locus and the endothelial nitric oxide synthase gene ( NOS3 ), have been identified as associated with POAG in a Saudi Arabian population [ 63 , 112 ]. Meanwhile, in Iran, an association between POAG and the p53 pro72 allele ( p < 0.05), as well as polymorphisms of the IL-10 gene promoter, have been noted and reflect findings in a Chinese population [ 113 , 114 ].…”

Development of Open-Angle Glaucoma in Adults With Seropositive Rheumatoid Arthritis in Korea

“…The gene polymorphism of interleukin-10 is also one of the phenomena observed with equal frequency in RA and POAG. 54 , 55 The use of drugs prescribed for patients with RA is being considered in animal models of glaucoma, to modulate neuroretina and optic nerve inflammatory response. This is part of the evidence that a paradigm shift is needed for glaucoma.…”

“…Recently published literature supported the hypothesis that RA and POAG may have common pathogenic or immunogenic components. The gene polymorphism of interleukin-10 is also one of the phenomena observed with equal frequency in RA and POAG . The use of drugs prescribed for patients with RA is being considered in animal models of glaucoma, to modulate neuroretina and optic nerve inflammatory response.…”

Serum IL-6/ IL-10 Ratio As A Biomarker for Primary Open Angle Glaucoma Assessment

“…Most research has been devoted to IL-6 production in the eye, although it remains unknown how systemic IL-6 contributes to the pathogenic mechanism of glaucoma. Anti-inflammatory response as opposed to IL-6 is where IL-10 truly excels [8] . IL-10 promoter polymorphisms have been linked with POAG susceptibility in numerous ethnic group investigations.…”