title: Analysis of functional polymorphisms in apoptosis-related genes in primary open angle glaucoma.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Ophthalmology, Medical University of Graz, Austria.
authors.forename: Ewald
authors.initials: E
authors.lastname: Lindner
authors.affiliation: Department of Ophthalmology, Medical University of Graz, Austria.
authors.forename: Wilfried
authors.initials: W
authors.lastname: Glatz
authors.affiliation: Department of Ophthalmology, Medical University of Graz, Austria.
authors.forename: Christoph
authors.initials: C
authors.lastname: Schwab
authors.affiliation: Department of Ophthalmology, Medical University of Graz, Austria.
authors.forename: Yosuf
authors.initials: Y
authors.lastname: El-Shabrawi
authors.affiliation: Department of Ophthalmology, Medical University of Graz, Austria.
authors.forename: Georg
authors.initials: G
authors.lastname: Mossböck
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D017209:Apoptosis / Q000235:genetics*; D016022:Case-Control Studies; D053222:Fas Ligand Protein / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics; D012189:Retrospective Studies; D044465:White People / Q000235:genetics; D051028:bcl-2-Associated X Protein / Q000235:genetics; D019014:fas Receptor / Q000235:genetics
chemical_list: C494826:BAX protein, human; C491901:FAS protein, human; C505661:FASLG protein, human; D053222:Fas Ligand Protein; D051028:bcl-2-Associated X Protein; D019014:fas Receptor; C494918:AKT1 protein, human; D051057:Proto-Oncogene Proteins c-akt