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S. Choi, K. Na, J. Mok, J. Park, S. Chung, C.-K. Joo; A Genetic Association of IL 6 and IL6R Genes in Korean Dry Eye Patients. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3402.
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© ARVO (1962-2015); The Authors (2016-present)
To determine the possibility of inflammation related genes, interleukin 6 (IL6) and interleukin 6 receptor (IL6) genes, as potential susceptibility candidate gene for Korean patients with dry eye, we investigated the association of the IL6 and IL6R polymorphisms in unrelated Korean patients with dry eye.
Genomic DNA was extracted from blood samples of unrelated Dry eye patients with two symptoms of non-Sjogren’s disease and Sjogren’s disease, visited the Department of Ophthalmology at the Catholic University Medical Center. To screen genetic variations in rs1800795 of IL6 promoter region and Asp358Ala (rs8192284) of IL6R were performed using polymerase chain reaction, restriction fragment length polymorphism and direct sequencing. Control individuals were selected from the general population without dry eye.
In this study, we investigated rs1800795 of IL6 and rs8192284 of IL6R in Korean patients with dry eye. Genotypic and allelic distribution of the rs8192284 of IL6R was significantly different between dry eye patients with non-Sjogren’s symptom and controls; C allele of dry eye patients was significantly difference compared with control subjects (p = 0.045, O.R. = 1.902). And also, Sjogren’s disease patients had significantly higher C allele frequency, C allele had significantly higher than controls was significantly difference compared with control subjects (p<0.001, O.R.=2.959). But there were no statistically significant differences in the allele and genotype frequencies of rs1800795 of IL6 promoter region between dry eye patients and controls. The genotype distributions of all polymorphisms of IL6 and IL6R among the control subjects and the affected individuals were in Hardy-Weinberg equilibrium.
This is the first report of IL6 and IL6R gene variations screening in Korean dry eye patients. Significant differences in allelic frequency in rs8192284 of the IL6R gene between dry eye, which is non-Sjogren’s and Sjogren’s diseases, and the control group suggest that IL6R polymorphisms may play a role in the susceptibility of unrelated Korean to develop dry eye, particularly, Sjogren’s disease.
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