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Choun-Ki Joo, Kyung-Sun Na, Ja-Yeoun Kim, Jee-Won Mok; A Genetic Association of Proinflammatory Cytokine Genes in Korean Dry Eye Patients. Invest. Ophthalmol. Vis. Sci. 2011;52(14):3806.
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To determine the possibility of proinflammatory cytokine genes, interleukin 1 beta (IL1B), interleukin 6 (IL6), interleukin 8 (IL8), interleukin 10 (IL10) and interleukin 6 receptor (IL6R) genes, as potential susceptibility candidate gene for Korean patients with dry eye, we investigated the association of the IL1B, IL6, IL8, IL10 and IL6R variations in unrelated Korean patients with dry eye
Genomic DNA was extracted from blood samples of unrelated Dry eye patients, visited the Eye Center of Seoul St. Mary’s Hospital. To screen genetic variations in proinflammatory cytokine genes, -511 (rs16944) and -31 (rs1143627) positions in promoter region and rs1143634 in exon 5 of IL1B, rs1800795 of IL6 promoter, Asp358Ala (rs8192284) of IL6R, rs4073 in promoter of IL8, rs1800871 and rs1800872 in promoter region of IL10 were performed using polymerase chain reaction, restriction fragment length polymorphism and direct sequencing. Control individuals were selected from the general population without dry eye
We analyzed eight polymorphic sites in promoter and exonic region of the proinflammatory cytokine genes. Among them, rs1143634 (F105F) in exon 5 of IL1B were significantly different between patient and control groups. The frequencies of *C/*T genotype in dry eye patients was significantly decreased compared with the control subjects (14.8% vs. 4.0%, p=0.016, O.R. = 4.22) and *T allele of dry eye patients was significantly difference compared with control subjects (O.R. = 2.613). In IL6R gene, genotypic and allelic distribution of the rs8192284 was significantly different between dry eye patients and controls; *C/*C genotype (p=0.017, O.R. = 2.12) and *C allele (O.R. = 1.26). rs1800871 (-819C>T) and rs1800872 (-592 A>C) in promoter region of IL10 were significantly different between patient and control groups. The *C allele of rs1800871 (p = 0.025, O.R. = 1.64) and the *C allele of rs1800872 (p = 0.025, O.R. = 1.64) were associated with a significantly increased risk of dry eye in Korean patients. But there were no statistically significant differences in the allele and genotype frequencies of rs16944 and rs1143627 of IL1B, rs1800795 of IL6 and rs4073 of IL8 between dry eye patients and controls
This is the first report of genetic variation screening of proinflammatory cytokine genes in Korean dry eye patients. It is suggested that rs1143634 of IL1B, rs8192284 of IL6R, rs1800871 and rs1800872 of IL10 may act as susceptibility variations for Korean patients with dry eye
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