Proinflammatory gene polymorphisms are potentially associated with Korean non-Sjogren dry eye patients

Abstract

Purpose: To determine whether proinflammatory cytokine genes were potential susceptibility candidate genes for Korean patients with non-Sjogren dry eye, we investigated the association of the interleukin 1 beta (IL1B), interleukin 6 (IL6), and interleukin 6 receptor (IL6R) variations with this disease in Korean patients.

Methods: Genomic DNA was extracted from blood samples of unrelated non-Sjogren dry eye patients and healthy control individuals who visited the Eye Center and Health Promotion Center of St. Mary's Hospital in Seoul, Korea. For screening genetic variations in proinflammatory cytokine genes, the 511 (rs16944) and 31 (rs1143627) positions in the promoter region of IL1B, rs1143634 in exon 5 of IL1B, rs1800795 of the IL6 promoter, and Asp358Ala (rs8192284) of IL6R were genotyped using the polymerase chain reaction, restriction fragment length polymorphisms, and direct sequencing.

Results: Among the polymorphisms, rs1143634 (F105F) in exon 5 of IL1B was significantly different between the patient and control groups. The frequency of the C/T genotype in dry eye patients was decreased relative to that of the control subjects (10.4% versus 3.9%, p=0.043, OR=3.337). For the IL6R gene, the genotypic and allelic distribution of rs8192284 was different between the dry eye patients and the controls: CC genotype (p=0.017, OR=2.12) and C allele (OR=1.26).

Conclusions: This is the first report of genetic variation screening of proinflammatory cytokine genes in Korean non-Sjogren dry eye patients. It is suggested that rs1143634 of IL1B and rs8192284 of IL6R act as susceptibility variations in Korean non-Sjogren dry eye patients.

Figure 1

The genotype polymorphism of IL1β rs1143634 and IL1β rs16944. A: The frequencies of *C/*T genotype of IL1β rs1143634 in non-Sjogren dry eye patients was increased compared with the control subjects (10.4% versus 3.9%, p=0.043, OR=3.337). B: No significant differences were shown in the IL1β rs16944 polymorphism.

Figure 2

The genotype polymorphism of IL6 rs1800795 and IL6R rs8192284. A: No differences in frequencies with rs1800795 in the IL6 gene. B: In the IL6R gene, genotypic and allelic distribution of rs8192284 was different between non-Sjogren dry eye patients and controls; *C/*C genotype (p=0.017, OR=2.12) and *C allele (OR=1.26).