title: Risk Factors for Normal and High-Tension Glaucoma in Poland in Connection with Polymorphisms of the Endothelial Nitric Oxide Synthase Gene.
abstract: OBJECTIVE
  The purpose of this study was to evaluate the influence of polymorphisms of the eNOS gene on the clinical status of patients with normal and high tension glaucoma.
  
  
  METHODS
  266 Polish Caucasian patients with primary open angle glaucoma were studied. Of the 266, 156 had normal tension glaucoma (NTG) and 110 high tension glaucoma (HTG). DNA material was isolated from peripheral venous blood using commercial kits. Real-time PCR reaction was used to amplify the promoter site of the endothelial nitric oxide synthase (eNOS) gene, including the single nucleotide polymorphism (SNP) site T-786C and part of the 7th exon of eNOS, including G894T SNP. Genotypes were determined with TaqMan SNP Genotyping Assays.
  
  
  RESULTS
  There were no significant differences in frequencies of the allelic variants of both polymorphisms. In G894T SNP, however, the wild GG form was more common in the HTG group. The SNP of the eNOS gene did not significantly influence the progression rate in either of the groups studied. There were no differences in variants of the eNOS gene regarding the necessity for and success of surgery and the progression of the disease. In the NTG group, no statistical correlation was observed between G894T, T786C polymorphism variants, and risk factors such as optic disc haemorrhages, optic disc notches, and peripapillary atrophy. Mean diastolic and systolic pressure during the day and night were lowest in NTG patients with the CC variant of the T786C polymorphism. No statistical correlation was observed between the G894T and T786C polymorphisms and capillaroscopic examination results.
  
  
  CONCLUSIONS
  Genotype frequencies are similar for both the eNOS G894T and T-786C polymorphisms in NTG and HTG patients. These polymorphisms do not correlate with risk factors and do not influence the state of the capillary system in NTG patients. Systolic blood pressure is lower in NTG patients with mutated alleles of both polymorphisms.
authors.affiliation: Department of Diagnostics and Microsurgery of Glaucoma, Medical University, Lublin, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Kosior-Jarecka
authors.affiliation: Department of Diagnostics and Microsurgery of Glaucoma, Medical University, Lublin, Poland.
authors.forename: Urszula
authors.initials: U
authors.lastname: Łukasik
authors.affiliation: Department of Diagnostics and Microsurgery of Glaucoma, Medical University, Lublin, Poland.
authors.forename: Dominika
authors.initials: D
authors.lastname: Wróbel-Dudzińska
authors.affiliation: Department of Clinical Genetics, Medical University, Lublin, Poland.
authors.forename: Janusz
authors.initials: J
authors.lastname: Kocki
authors.affiliation: Department of Dermatology, Venerology and Paediatric Dermatology, Medical University, Lublin, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Bartosińska
authors.affiliation: Department of Internal Diseases, Medical University, Lublin, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Witczak
authors.affiliation: Department of Dermatology, Venerology and Paediatric Dermatology, Medical University, Lublin, Poland.
authors.forename: Grażyna
authors.initials: G
authors.lastname: Chodorowska
authors.affiliation: Department of Internal Diseases, Medical University, Lublin, Poland.
authors.forename: Jerzy
authors.initials: J
authors.lastname: Mosiewicz
authors.affiliation: Department of Diagnostics and Microsurgery of Glaucoma, Medical University, Lublin, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Żarnowski
mesh_terms: D000368:Aged; D000483:Alleles; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005901:Glaucoma / Q000235:genetics*; D006801:Humans; D057066:Low Tension Glaucoma / Q000235:genetics; D008297:Male; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D044465:White People / Q000235:genetics
chemical_list: D052250:Nitric Oxide Synthase Type III