title: A catalase promoter variant rs1001179 is associated with visual acuity but not with primary angle closure glaucoma in Saudi patients.
abstract: BACKGROUND
  To Investigate whether the g.4760C>T polymorphism in the promoter region of the catalase gene (CAT) is a risk factor for primary angle closure glaucoma (PACG) in the Saudi population.
  
  
  METHODS
  138 unrelated PACG patients and 403 unrelated control subjects from Saudi Arabia were genotyped for a single nucleotide polymorphism (SNP; rs1001179; g.4760C>T) utilizing Taq-Man(®) assay. The association between different genotypes and various clinical indices important for PACG was also investigated.
  
  
  RESULTS
  The distribution of different genotypes was comparable between both study groups. The genotype "C/C" was predominant among cafses; 94 (68.1%) and controls; 289 (71.7%). Heterozygous genotype "C/T", was present in 41 (29.7%) of cases and 103 (25.6%) of controls, where the homozygous variant genotype was present in only 3 (2.2%) of cases and 11 (2.7%) of the controls. The distribution of variant allele was similar in both study groups (p= 0.568). Interestingly, there was a trend of association between the type of the variant (homozygous variant, heterozygous and wildtype genotype) and one important parameter for PACG, which is visual acuity. The visual acuity increase was; 0.62 (±0.74), 0.88 (±0.88) and 1.27 (±0.95) in patients carrying the "C/C", "C/T" and "T/T" genotypes respectively, which was statistically significant in both ANOVA and pairwise individual T tests (p = 0.022, 0.031 and 0.039) when compared to controls.
  
  
  CONCLUSIONS
  This variant is possibly associated with visual acuity in PACG patients and thus had the potential to be used as a parameter for assessing PACG severity.
authors: Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia, PO Box 245, Riyadh 11411, Saudi Arabia. abuamero@gmail.com
authors: Khaled K
authors: KK
authors: Abu-Amero
authors: Taif Anwar
authors: TA
authors: Azad
authors: Ahmed
authors: A
authors: Mousa
authors: Essam A
authors: EA
authors: Osman
authors: Tahira
authors: T
authors: Sultan
authors: Saleh A
authors: SA
authors: Al-Obeidan
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D002374:Catalase / Q000378:metabolism; D005260:Female; D056426:Genetic Loci; D015812:Glaucoma, Angle-Closure / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D015203:Reproducibility of Results; D012307:Risk Factors; D012529:Saudi Arabia; D014792:Visual Acuity / Q000235:genetics*
chemical_list: D002374:Catalase
references: Ophthalmic Genet. 2013 Dec;34(4):223-8
references: 24215654
references: Biochem Biophys Res Commun. 1990 Dec 31;173(3):1043-50
references: 2268310
references: Mitochondrion. 2012 Mar;12(2):202-12
references: 22138560
references: Mutat Res. 2006 Mar;612(2):105-14
references: 16413223
references: Nat Genet. 2012 Oct;44(10):1142-1146
references: 22922875
references: Mol Vis. 2011;17:1468-72
references: 21677789
references: Free Radic Res. 2012 Oct;46(10):1249-57
references: 22712453
references: Cell Mol Life Sci. 2004 Jan;61(2):192-208
references: 14745498
references: Acta Ophthalmol (Copenh). 1975 Jun;53(3):436-49
references: 1174403
references: J Glaucoma. 2003 Apr;12(2):167-80
references: 12671473
references: Invest Ophthalmol Vis Sci. 2006 Jun;47(6):2533-41
references: 16723467
references: Exp Eye Res. 2007 Mar;84(3):389-99
references: 17196589
references: J Neural Transm (Vienna). 2009 Nov;116(11):1371-81
references: 19763773
references: Cancer Epidemiol Biomarkers Prev. 2008 May;17(5):1082-7
references: 18483329
references: Curr Opin Ophthalmol. 2011 Mar;22(2):96-101
references: 21252671
references: Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5591-6
references: 18055808