Lin Hui-Ju, Tsai San-Chang, Tsai Fuu-Jen, Chen Wen-Chi, Tsai Jeffery J P, Hsu Cheng-Der
Department of Ophthalmology, China Medical College Hospital, Taichung Healthcare and Management University, Taichung 404, Taiwan, ROC.
Ophthalmologica. 2003 Sep-Oct;217(5):358-64. doi: 10.1159/000071352.
Genetic factors are known to play a role in the etiology of glaucoma. More specifically, the role of the immune system is highly suspected. We evaluated the association between 2 polymorphisms in the interleukin (IL) 1beta gene (IL-1 promoter 511, IL-1 exon 5) and 1 polymorphism in the IL-1 gene receptor antagonist (IL-1Ra) intron 2 with primary open-angle glaucoma (POAG).
Fifty-eight POAG patients and 105 healthy volunteers were enrolled in this study. Analysis based on polymerase chain reaction was used to resolve the 2 IL-1beta polymorphisms and the IL-1Ra intron 2 polymorphism.
There were significant differences in the distribution of the IL-1beta exon 5 polymorphism between the POAG patients and the control subjects (p < 0.05). The E2 allele of IL-1beta exon 5 was more frequently found in POAG patients than in healthy patients (odds ratio: 4.224, 95% confidence interval = 1.135-15.717). The distributions of the other 2 polymorphisms, IL-1beta promoter 511 and IL-1Ra intron 2, were not significantly different between the POAG patients and the healthy control group.
The frequency of the E2 allele of the IL-1beta exon 5 polymorphism was high in POAG patients. Therefore the E2 allele can be used as a marker to predict or search for the genetic causes of glaucoma in Chinese POAG patients. Furthermore, we have concluded that the other 2 polymorphisms (IL-1 promoter 511 and IL-1Ra) are not helpful in predicting Chinese POAG.
已知遗传因素在青光眼的病因中起作用。更具体地说，免疫系统的作用备受怀疑。我们评估了白细胞介素（IL）-1β基因中的2个多态性（IL-1启动子511、IL-1外显子5）以及IL-1基因受体拮抗剂（IL-1Ra）内含子2中的1个多态性与原发性开角型青光眼（POAG）之间的关联。
本研究纳入了58例POAG患者和105名健康志愿者。基于聚合酶链反应的分析用于解析2个IL-1β多态性和IL-1Ra内含子2多态性。
POAG患者与对照组之间IL-1β外显子5多态性的分布存在显著差异（p < 0.05）。POAG患者中IL-1β外显子5的E2等位基因比健康患者中更常见（优势比：4.224，95%置信区间 = 1.135 - 15.717）。另外2个多态性，即IL-1β启动子511和IL-1Ra内含子2，在POAG患者与健康对照组之间的分布没有显著差异。
POAG患者中IL-1β外显子5多态性的E2等位基因频率较高。因此，E2等位基因可作为预测或寻找中国POAG患者青光眼遗传病因的标志物。此外，我们得出结论，另外2个多态性（IL-1启动子511和IL-1Ra）对预测中国POAG并无帮助。
