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Editors Selection IGR 9-2

Basic research: Genetics: Apolipoprotein polymorphism

Comment by Stuart McKinnon on:

18044 Apolipoprotein E polymorphisms in patients with primary open-angle glaucoma, Zetterberg M; Tasa G; Palmér MS et al., American Journal of Ophthalmology, 2007; 143: 1059-1060

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Recent studies have raised awareness of the role of Alzheimer's disease-related mechanisms in the apoptotic cell death of retinal ganglion cells, including an increased prevalence of primary open-angle glaucoma (POAG) among patients with Alzheimer's disease. Apolipoprotein E (APOE), in particular the APOE epsilon-4 polymorphism, have been previously identified as a major risk factor in the development of Alzheimer's disease.Zetterberg et al. (471) have investigated the association of APOE ε-2, ε-3, and ε-4 polymorphisms with the presence of POAG in patients exclusively of Estonian nationality.POAG was diagnosed solely by changes in optic disk configuration, and patients with secondary or closed-angle glaucoma were excluded. Two hundred and forty-two POAG patients and 187 control individuals were recruited for this study, with a majority of both groups being women (64.1% vs. 72.7%, respectively). Genotyping and determination of APOE allele frequency were performed by minisequencing and were compared using Pearson chi-square tests. In this western European population, no significant differences were found between the control and the POAG groups for any of the APOE alleles or genotypes.This finding adds to the existing literature that has shown no association of APOE polymorphisms and POAG in a northeastern English population, but positive associations in a Japanese population and interaction of APOE polymorphisms with myocilin and/or optineurin in Chinese and French populations. A positive association has also been found in normal tension glaucoma patients in an Australian population. Although the authors conclude that APOE polymorphisms do not contribute to a common pathogenic mechanism for POAG and neurodegenerative diseases such as Alzheimer's disease, it appears that genetic background is a possible contributing factor in such associations, and further studies are necessary.

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