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Abstract #9709 Published in IGR 5-3
Association of interleukin 1 and receptor antagonist gene polymorphisms with primary open-angle glaucoma
Hui-Ju Lina; San-Chang Tsaia; Fuu-Jen Tsaib; Wen-Chi Chenb; Tsaic JJP; Cheng-Der HsubOphthalmologica 2003; 217: 358-364
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. The authors evaluated the association between two polymorphisms in the interleukin (IL) 1 gene (IL-1 promoter 511, IL-1 exon 5) and one 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 two 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, the authors concluded that the other two polymorphisms (IL-1 promoter 511 and IL-1Ra) are not helpful in predicting Chinese POAG.
Dr. Fuu-Jen Tsai, Department of Medical Genetics and Pediatrics, China Medical College Hospital, No. 2 Yuh-Der Road, Taichung 404, Taiwan, ROC. d0704@www.cmch.org.tw
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
