Neurodegenerative Genes Polymorphisms of the -491A/T APOE, the -877T/C APP and the Risk of Primary Open-angle Glaucoma in the Polish Population. (June 2015)

• Record Type: Journal Article
• Authors: Nowak, Alicja; Przybylowska-Sygut, Karolina; Gacek, Mira; Kaminska, Anna; Szaflik, Jacek P.; Szaflik, Jerzy; Majsterek, Ireneusz
• Is Part Of: Ophthalmic genetics. Volume 36:Number 2(2015:Jun.)
• Page Start: 105
• Page End: 112
• Publication Date: 2015-06
• Subjects: Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2013.838277
• Languages: English
• ISSNs: 1381-6810

Abstract

<abstract> <title>Abstract</title> <p> <italic>Background</italic>: Glaucoma is characterized by optic neuropathy of the retinal ganglion cell. It may be possible that β-amyloid (Aβ) and apolipoprotein E (APOE), the main proteins of the pathogenesis of AD, play a role in glaucoma development. The aim of this study was to evaluate a relationship between the <italic>APP</italic> and <italic>APOE</italic> gene polymorphisms and the risk of primary open-angle glaucoma (POAG) occurrence.</p> <p> <italic>Materials and methods</italic>: The study consisted of 183 patients with POAG and 209 healthy subjects. Genomic DNA was extracted from peripheral blood. Analysis of the gene polymorphisms was performed using PCR-RFLP.</p> <p> <italic>Results</italic>: We found a statistically significant increase of the -491 T allele frequency (<italic>p</italic> = 0.02; OR = 1.48; 95% CI = 1.06–2.08) of <italic>APOE</italic> in POAG compared to healthy controls. There were no differences in the genotype and allele distributions and odds ratios of the <italic>APP</italic> polymorphism between patients and controls group. We also found an association between <italic>APOE</italic> polymorphic variant and retinal nerve fiber layer (RNFL). There was a statistically significant difference in the <italic>APOE</italic> gene A/T genotype frequency in the early POAG stage and middle-advanced POAG stage in comparison to the advanced POAG stage (<italic>p</italic> = 0.04; OR = 3.38; 95% CI = 1.04–10.97).</p> <p> <italic>Conclusions</italic>: The -491 T allele of <italic>APOE</italic> polymorphism may be associated with a risk of POAG occurrence in the Polish population.</p> </abstract>