title: Analysis of toll-like receptor rs4986790 polymorphism in Saudi patients with primary open angle glaucoma.
abstract: To investigate whether SNP rs4986790 in toll-like receptors (TLRs) is a risk factor for primary open angle glaucoma (POAG) in a Saudi population.
  
  
  
  A cohort of 85 unrelated POAG patients and 95 unrelated control subjects from Saudi Arabia were genotyped utilizing Taq-Man® assay. The association between mutant genotypes and various clinical indices important for POAG was investigated.
  
  
  
  Among cases, the normal pattern (A/A) was detected in 70 (82.4%) of the subjects, A/G in 14 (16.5%) and G/G in one subject only (1.2%). Among controls, prevalence of the genotype (A/A) was detected in 86 (90.5%), the (A/G) genotype in 8 (8.4%) and homozygous mutated genotype (G/G) in 1 (1.1%) subjects. Comparing cases to controls, the odds ratio of having heterozygous mutation (A/G) was 2.15 [95% CI: 0.853-5.417], which was not significant (p = 0.114). The odds ratio of having homozygous mutation (G/G) was 1.22 [95% CI: 0.075-19.99], which was statistically non-significant (p = 0.568). Likewise, the presence of the mutated allele (G) was non-significantly different between cases and controls (p = 0.154). Comparing cases to controls as regards co-morbidity with other systemic diseases, there were no statistically significant differences between groups in all assessed diseases except for a family history of glaucoma (p = 0.014) Conclusions: In conclusion, we could not detect any direct link between genotypes or allele frequencies of SNP rs4986790 in the TLR4 gene and POAG. In contrast, genotype (A/A) may be protective against POAG especially among individuals with no family history of glaucoma.
authors.affiliation: a Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.|b Glaucoma Research Chair, Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.|c Department of Ophthalmology , College of Medicine, University of Florida , Jacksonville , Florida , USA.
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
authors.affiliation: a Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.|b Glaucoma Research Chair, Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.
authors.forename: Altaf A
authors.initials: AA
authors.lastname: Kondkar
authors.affiliation: a Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.|b Glaucoma Research Chair, Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Mousa
authors.affiliation: a Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.|b Glaucoma Research Chair, Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.
authors.forename: Taif A
authors.initials: TA
authors.lastname: Azad
authors.affiliation: a Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.|b Glaucoma Research Chair, Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.
authors.forename: Tahira
authors.initials: T
authors.lastname: Sultan
authors.affiliation: a Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.
authors.forename: Essam A
authors.initials: EA
authors.lastname: Osman
authors.affiliation: a Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.
authors.forename: Saleh A
authors.initials: SA
authors.lastname: Al-Obeidan
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D060005:Genotyping Techniques; D005902:Glaucoma, Open-Angle / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D012529:Saudi Arabia / Q000453:epidemiology; D051197:Toll-Like Receptor 4 / Q000235:genetics*; D055815:Young Adult
chemical_list: C495345:TLR4 protein, human; D051197:Toll-Like Receptor 4
keywords: Primary open angle glaucoma; Saudi Arabia; rs4986790; toll-like receptors