title: Associations between Rs4244285 and Rs762551 gene polymorphisms and age-related macular degeneration.
abstract: Age-related macular degeneration is the leading cause of blindness in elderly individuals in developed countries. The etiology and pathophysiology of age-related macular degeneration have not been elucidated yet. Knowing that the main pathological change of age-related macular degeneration is formation of drusen containing about 40% of lipids, there have been attempts to find associations between age-related macular degeneration and genes controlling lipid metabolism.
  
  
  
  To determine the frequency of CYP2C19 (G681A) Rs4244285 and CYP1A2 (-163C>A) Rs762551 genotypes in patients with age-related macular degeneration.
  
  
  
  The study enrolled 150 patients with early age-related macular degeneration and 296 age- and gender-matched healthy controls. The genotyping of Rs4244285 and Rs762551 was carried out by using the real-time polymerase chain reaction method.
  
  
  
  The CYP1A2 (-163C>A) Rs762551 C/C genotype was more frequently detected in patients with age-related macular degeneration than in the control group (32.7% vs. 21.6%, p = 0.011) and was associated with an increased risk of developing early age-related macular degeneration (OR = 1.759, 95% CI: 1.133-2.729; p = 0.012). The CYP1A2 (-163C>A) Rs762551 C/A genotype was more frequently documented in the control group compared with patients with age-related macular degeneration (46.3% vs. 30.7%, p = 0.002) and was associated with a decreased risk of having age-related macular degeneration (OR = 0.580. 95% CI: 0.362-0.929, p = 0.023) in the co-dominant model.
  
  
  
  The study showed that the CYP1A2 (-163C>A) Rs762551 C/C genotype was associated with an increased risk of age-related macular degeneration.
authors.affiliation: a Medical Academy , Lithuanian University of Health Sciences , Kaunas , Lithuania.
authors.forename: Neringa
authors.initials: N
authors.lastname: Stasiukonyte
authors.affiliation: b Department of Ophthalmology, Medical Academy , Lithuanian University of Health Sciences , Kaunas , Lithuania.|c Neuroscience Institute, Medical Academy , Lithuanian University of Health Sciences , Kaunas , Lithuania.
authors.forename: Rasa
authors.initials: R
authors.lastname: Liutkeviciene
authors.affiliation: c Neuroscience Institute, Medical Academy , Lithuanian University of Health Sciences , Kaunas , Lithuania.
authors.forename: Alvita
authors.initials: A
authors.lastname: Vilkeviciute
authors.affiliation: b Department of Ophthalmology, Medical Academy , Lithuanian University of Health Sciences , Kaunas , Lithuania.
authors.forename: Mantas
authors.initials: M
authors.lastname: Banevicius
authors.affiliation: b Department of Ophthalmology, Medical Academy , Lithuanian University of Health Sciences , Kaunas , Lithuania.|c Neuroscience Institute, Medical Academy , Lithuanian University of Health Sciences , Kaunas , Lithuania.
authors.forename: Loresa
authors.initials: L
authors.lastname: Kriauciuniene
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D019388:Cytochrome P-450 CYP1A2 / Q000235:genetics*; D065731:Cytochrome P-450 CYP2C19 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D012307:Risk Factors
chemical_list: C504573:CYP1A2 protein, human; C045793:CYP2C19 protein, human; D019388:Cytochrome P-450 CYP1A2; D065731:Cytochrome P-450 CYP2C19
keywords: Age-related macular degeneration; cytochrome P450; gene polymorphism