title: Association of Mn-SOD mutation (c.47T > C) with various POAG clinical indices.
abstract: BACKGROUND
  To investigate whether the c.47T > C mutation in the manganese superoxide dismutase gene (Mn-SOD) is a risk factor for primary open angle glaucoma (POAG) in the Saudi population.
  
  
  METHODS
  A cohort of 226 unrelated POAG patients and 403 unrelated control subjects from Saudi Arabia were genotyped for a single nucleotide polymorphism (SNP; rs4880; c.47T > C) utilizing Taq-Man® assay ID: C_8709053_10. The association between mutant genotypes and various clinical indices important for POAG was also investigated.
  
  
  RESULTS
  Among cases, the prevalence of the wildtype genotype (T/T) was 22.1% (50/226), while the heterozygous mutated genotype (T/C) was 50.9% (115/226) and the homozygous mutant genotype (C/C) was 27% (61/226). There were no statistically significant differences between cases and controls in terms of the genotype distribution on both heterozygous mutant (p = 0.916) and homozygous mutant (p = 0.988) genotypes. POAG patients with the mutant genotypes had slightly higher intraocular pressure (IOP) than controls. Additionally, patients with T/C genotype had slight elevation of the cup/disc ratio than the normal group. Additionally, the age at onset of disease showed an increasing trend with severity of mutation where it increases across groups T/T, T/C, and C/C being at [48.9 (±16.3), 51.4 (±12.2), and 56.5 (±13.9)] respectively and a p value of 0.028 for the C/C genotype.
  
  
  CONCLUSIONS
  This mutation could be associated with various clinical indices important for POAG. If similar findings were found in other populations and larger cohorts, then this SNP may be used as a marker for assessing the severity of the disease.
authors: Department of Ophthalmology, College of Medicine, King Saud University , Riyadh , Saudi Arabia and.
authors: Khaled K
authors: KK
authors: Abu-Amero
authors: Altaf A
authors: AA
authors: Kondkar
authors: Ahmed
authors: A
authors: Mousa
authors: Essam A
authors: EA
authors: Osman
authors: Saleh A
authors: SA
authors: Al-Obeidan
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005819:Genetic Markers; D060005:Genotyping Techniques; D005902:Glaucoma, Open-Angle / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012529:Saudi Arabia; D013482:Superoxide Dismutase / Q000235:genetics*; D000099156:Superoxide Dismutase 2
chemical_list: D005819:Genetic Markers; D013482:Superoxide Dismutase; D000099156:Superoxide Dismutase 2