Investigation of ARHGEF12 Single Nucleotide Polymorphism in Hypercholesterolemia and Primary Open Angle Glaucoma

  • Derya Yaman Kağızman State Hospital, Department of Ophthalmology
  • Tamer Takmaz Ankara City Hospital, Department of Ophthalmology
  • Selin Akad Dinçer Başkent University Faculty of Medicine, Department of Medical Genetics
  • Feride İffet Şahin Başkent University Faculty of Medicine, Department of Medical Genetics


Objective:To investigate the effect of single nucleotide polymorphism rs58073046 A>G within the ARHGEF12 gene in patients with hypercholesterolemia and primary open angle glaucoma. Methods:  Blood samples of 20 patients with high serum cholesterol and primary open angle glaucoma (Group 1), 20 sex and age matched healthy subjects (Group 2) as controls were enrolled to the study. The ARHGEF12 gene polymorphism was determined by polymerase chain reaction and DNA sequence analysis. The data were assessed by descriptive statics and Fisher exact x2 test. Results: The homozygous wild type genotype (AA)  was identified in 95 % of Group 1 versus 100 % of Group 2. The homozygous mutant genotype (GG), presented the highest prevelance in Group 1 (5%),  although the difference was not statistically significant between groups (p=0.5). Conclusion: This is the first study to identify the role of ARHGEF12 gene variant in the risk of hypercholesterolemia and POAG. Our results showed that there is no association between rs58073046 A>G polymorphism and disease development.
Original Research