The Role of Apolipoprotein E Gene Polymorphisms in Primary Open-angleGlaucoma | Genetics and Genomics | JAMA Ophthalmology | JAMA Network
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Ophthalmic Molecular Genetics
February 2004

The Role of Apolipoprotein E Gene Polymorphisms in Primary Open-angleGlaucoma

Author Affiliations

From the Department of Ophthalmology, Royal Victoria Infirmary (DrsRessiniotis, 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 interestin this article.



Arch Ophthalmol. 2004;122(2):258-261. doi:10.1001/archopht.122.2.258

Objective  To test the hypothesis that genetic polymorphisms of the apolipoproteinE (APOE) gene are associated with primary open-angleglaucoma (POAG), based on the association between neurodegenerative diseasesand the APOE genotype.

Methods  Genomic DNA was examined from an unrelated cohort of 137 POAG patientsand 75 control subjects from the ophthalmology department of the Royal VictoriaInfirmary. The APOE allele frequency (ϵ2, ϵ3,and ϵ4 alleles) was studied by polymerase chain reaction amplificationof the related locus (19q13.2), enzymatic digestion of the products, gel electrophoresis,and imaging under UV illumination. For statistical analysis, we used a logisticregression model that included intraocular pressure as a continuous variableto study the possible correlation between POAG and APOE allele frequency.

Results  Logistic regression analysis showed no statistically significant associationbetween the frequency of the APOE allele and POAGfor the population studied, irrespective of the IOP (ϵ2 odds ratio, 0.82;95% confidence interval, 0.12-5.79 [P = .84]; ϵ3odds ratio, 0.39; 95% confidence interval, 0.10-1.49 [P = .17]; and ϵ4 odds ratio, 3.84; 95% confidence interval, 0.80-18.49[P = .09]).

Conclusion  In our cohort, the APOE genotype does not constitutea 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.