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Published on: June 3, 2018
Analysis of functional polymorphisms in apoptosis-related genes in primary open angle glaucoma
Ewald Lindner1, Wilfried Glatz1, Christoph Schwab1
1Department of Ophthalmology, Medical University of Graz, Austria.
Purpose:
Glaucoma is a disease with high heritability in which the degradation of retinal ganglion cells occurs via apoptosis. Therefore, we investigated the role of four functional apoptosis-related gene variants (Akt1 rs1130233, Bax rs4645878, Fas rs223476, and FasL rs763110) in patients with primary open angle glaucoma.
Methods:
334 patients with primary open angle glaucoma and 334 controls were recruited for this case-control study. The main outcome measures were genotype distribution and allelic frequencies determined with PCR.
Results:
After adjustment for multiple testing, no significant difference in either the genotype distribution or the allelic frequencies of any investigated gene variant was found.
Conclusions:
Our findings indicate that the investigated gene polymorphisms are unlikely to be major risk factors for primary open angle glaucoma in Caucasian patients.
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