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The Role of Apolipoprotein E Gene Polymorphisms in Primary Open-angle Glaucoma
Thomas Ressiniotis, MRCOphth;
Philip G. Griffiths, FRCOphth;
Michael Birch, FRCOphth;
Sharon Keers;
Patrick F. Chinnery, PhD MRCP
Arch Ophthalmol. 2004;122:258-261.
Objective To test the hypothesis that genetic polymorphisms of the apolipoprotein E (APOE) gene are associated with primary open-angle glaucoma (POAG), based on the association between neurodegenerative diseases and the APOE genotype.
Methods Genomic DNA was examined from an unrelated cohort of 137 POAG patients and 75 control subjects from the ophthalmology department of the Royal Victoria Infirmary. The APOE allele frequency ( 2, 3, and 4 alleles) was studied by polymerase chain reaction amplification of the related locus (19q13.2), enzymatic digestion of the products, gel electrophoresis, and imaging under UV illumination. For statistical analysis, we used a logistic regression model that included intraocular pressure as a continuous variable to study the possible correlation between POAG and APOE allele frequency.
Results Logistic regression analysis showed no statistically significant association between the frequency of the APOE allele and POAG for the population studied, irrespective of the IOP (2 odds ratio, 0.82; 95% confidence interval, 0.12-5.79 [P = .84]; 3 odds ratio, 0.39; 95% confidence interval, 0.10-1.49 [P = .17]; and 4 odds ratio, 3.84; 95% confidence interval, 0.80-18.49 [P = .09]).
Conclusion In our cohort, the APOE genotype does not constitute a risk factor for developing POAG, even in patients with normal-tension glaucoma.
Clinical Relevance Apolipoprotein E polymorphisms do not appear to be contributory to POAG.
From the Department of Ophthalmology, Royal Victoria Infirmary (Drs Ressiniotis, Griffiths, and Birch), and Department of Neurology, Medical School, University of Newcastle upon Tyne (Drs Ressiniotis and Chinnery and Ms Keers), Newcastle upon Tyne, England. The authors have no relevant financial interest in this article.
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