Original Paper

Association of Interleukin 1 and Receptor Antagonist Gene Polymorphisms with Primary Open-Angle Glaucoma
Hui-Ju Lin^a,b,d, San-Chang Tsai^a, Fuu-Jen Tsai^b, Wen-Chi Chen^b, Jeffery J.P. Tsai^c, Cheng-Der Hsu^b

Departments of
^aOphthalmology and
^bMedical Genetics and Pediatrics, China Medical College Hospital,
^cGraduate Institute of Bioinformatics, Taichung Healthcare and Management University, and
^dDepartment of Biology and Life Science Research Center, Tunghai University, Taichung, Taiwan, ROC

Address of Corresponding Author

Ophthalmologica 2003;217:358-364 (DOI: 10.1159/000071352)

  Key Words

• Primary open-angle glaucoma
• Genetic polymorphism
• Interleukin 1
• Interleukin 1 receptor antagonist

  Abstract

Purpose: 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) 1 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). Patients and Methods: 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-1 polymorphisms and the IL-1Ra intron 2 polymorphism. Results: There were significant differences in the distribution of the IL-1 exon 5 polymorphism between the POAG patients and the control subjects (p < 0.05). The E2 allele of IL-1 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-1 promoter 511 and IL-1Ra intron 2, were not significantly different between the POAG patients and the healthy control group. Conclusions: The frequency of the E2 allele of the IL-1 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.

Copyright © 2003 S. Karger AG, Basel

  Author Contacts

Fuu-Jen Tsai, MD, PhD
Department of Medical Genetics and Pediatrics
China Medical College Hospital, No. 2 Yuh-Der Road
Taichung 404, Taiwan (ROC)
Tel. +886 4 22052121, ext. 7080, Fax +886 4 22033295, E-Mail d0704@www.cmch.org.tw

  Article Information

Received: April 4, 2002
Accepted after revision: March 20, 2003
Number of Print Pages : 7
Number of Figures : 3, Number of Tables : 5, Number of References : 36