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

Mol Vis. 2015 Dec 30:21:1340-4. eCollection 2015.

Abstract

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.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Apoptosis / genetics*
  • Case-Control Studies
  • Fas Ligand Protein / genetics
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genotype
  • Glaucoma, Open-Angle / genetics*
  • Glaucoma, Open-Angle / pathology
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Proto-Oncogene Proteins c-akt / genetics
  • Retrospective Studies
  • White People / genetics
  • bcl-2-Associated X Protein / genetics
  • fas Receptor / genetics

Substances

  • BAX protein, human
  • FAS protein, human
  • FASLG protein, human
  • Fas Ligand Protein
  • bcl-2-Associated X Protein
  • fas Receptor
  • AKT1 protein, human
  • Proto-Oncogene Proteins c-akt