Na Kyung-Sun, Mok Jee-Won, Kim Ja Yeon, Joo Choun-Ki
Department of Health Promotion Center, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Mol Vis. 2011;17:2818-23. Epub 2011 Oct 29.
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.
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.
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).
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.
为了确定促炎细胞因子基因是否是非干燥综合征性干眼症韩国患者的潜在易感候选基因，我们调查了白细胞介素1β（IL1B）、白细胞介素6（IL6）和白细胞介素6受体（IL6R）基因变异与韩国非干燥综合征性干眼症患者疾病的相关性。
从韩国首尔圣玛丽医院眼科中心和健康促进中心就诊的非干燥综合征性干眼症患者及健康对照个体的血液样本中提取基因组DNA。为了筛查促炎细胞因子基因的遗传变异，使用聚合酶链反应、限制性片段长度多态性和直接测序对IL1B启动子区域的511（rs16944）和31（rs1143627）位点、IL1B外显子5中的rs1143634、IL6启动子的rs1800795以及IL6R的Asp358Ala（rs8192284）进行基因分型。
在这些多态性中，IL1B外显子5中的rs1143634（F105F）在患者组和对照组之间存在显著差异。干眼症患者中C/T基因型的频率相对于对照组有所降低（10.4%对3.9%，p = 0.043，OR = 3.337）。对于IL6R基因，rs8192284的基因型和等位基因分布在干眼症患者和对照组之间存在差异：CC基因型（p = 0.017，OR = 2.12）和C等位基因（OR = 1.26）。
这是关于韩国非干燥综合征性干眼症患者促炎细胞因子基因遗传变异筛查的首次报告。提示IL1B的rs1143634和IL6R的rs8192284是韩国非干燥综合征性干眼症患者的易感变异。
