Analysis of functional polymorphisms in apoptosis-related genes in primary open angle glaucoma

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.