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T. Ressiniotis, P.G. Griffiths, M.K. Birch, S. Keers, P.F. Chinnery; Apolipoprotein E Gene Polymorphisms in Primary Open Angle Glaucoma . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1106.
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Purpose: Primary Open Angle Glaucoma (POAG) is a neurodegenerative disease with evidence of complex inheritance. There appears to be some clinical overlap between Alzheimer's disease and POAG suggesting that there may be a common genetic substrate. The apolipoprotein ε4 (apo ε4) allele confers increased risk of developing Alzheimer's disease and the apo ε2 allele reduced risk. A recent study in an Australian population has identified a significant correlation between normal tension glaucoma and apolipoprotein ε4 allele. We investigated the possible association of the apo ε gene polymorphism (apo ε2, ε3 and ε4) and POAG. Methods:Banked DNA from 151 unrelated POAG patients and 84 control subjects from the North East of England was analysed in this study. The apo ε genotype was examined by PCR amplification of the related locus (19q13.2), digestion of the products with Hae II and Afl III enzymes separately and electrophoresis on a 4% Microsieve agarose gel enriched with Ethidium Bromide. The gel was viewed under UV light and imaged with a digital camera. Results:The frequencies of apo ε genotypes and alleles were similar in both the patients and control subjects. Data analysis using the x2test showed no statistically significant difference of the frequency of the ε4 allele in the 2 groups (x2=0.005, p-Value= 0.944). Similarly, the distribution of all alleles was alike in the patients and control groups (x2=0.164, p-Value =0.921). Conclusions:The above data indicate that in the population that was studied, there is no association between the apo ε genetic polymorphism and Primary Open Angle Glaucoma.
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