April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
A Genetic Association of Proinflammatory Cytokine Genes in Korean Dry Eye Patients
Author Affiliations & Notes
  • Choun-Ki Joo
    Ophthalmology & Visual Sci, Catholic Univ Korea Coll of Med, Seoul, Republic of Korea
  • Kyung-Sun Na
    Ophthalmology & Visual Sci, Catholic Univ Korea Coll of Med, Seoul, Republic of Korea
  • Ja-Yeoun Kim
    Ophthalmology & Visual Sci, Catholic Univ Korea Coll of Med, Seoul, Republic of Korea
  • Jee-Won Mok
    Ophthalmology & Visual Sci, Catholic Univ Korea Coll of Med, Seoul, Republic of Korea
  • Footnotes
    Commercial Relationships  Choun-Ki Joo, None; Kyung-Sun Na, None; Ja-Yeoun Kim, None; Jee-Won Mok, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 3806. doi:
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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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Abstract

Purpose: : 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

Methods: : 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

Results: : 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

Conclusions: : 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

Keywords: cornea: tears/tear film/dry eye • gene screening • genetics 
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