title: Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration.
abstract: OBJECTIVE
  Exudative age-related macular degeneration (AMD) is a common cause for a severe central visual loss. The complement system has been implicated in the pathogenesis of drusen. Recently, a complement factor H (CFH) polymorphism, which is characterized by a tyrosine (Y)-to-histidine (H) exchange at position 402 of the CFH gene, has been suggested as a major risk factor for AMD in a North American population. The aim of the present study was to investigate a hypothesized association between the CFH Y402H polymorphism and the presence of exudative AMD in a Central European population of Caucasoid descent as well as to determine the genotype distribution among different types of exudative AMD.
  
  
  METHODS
  Retrospective case-control study.
  
  
  METHODS
  The study cohort consisted of 179 patients with exudative AMD and 163 controls.
  
  
  METHODS
  Determination of genotypes was carried out by allele-specific digestion of polymerase chain reaction products.
  
  
  METHODS
  Genotypes of CFH Y402H polymorphism.
  
  
  RESULTS
  The prevalence of the CFH 402HH genotype was significantly higher in patients with exudative AMD than among controls (35.2% vs. 8.6%; P<0.001). Homozygosity for the CFH Y402H polymorphism was associated with an odds ratio of 5.78 (95% confidence interval, 3.09-10.83) for exudative AMD. Subgroup analysis revealed that the CFH 402HH genotype was significantly more prevalent in eyes with predominantly classic with no occult choroidal neovascularization (CNV) than in those with either retinal angiomatous proliferation, occult with no classic CNV, or predominantly classic with occult CNV.
  
  
  CONCLUSIONS
  Our data suggest that the CFH Y402H polymorphism is a major risk factor for exudative AMD in a Central European population.
authors.affiliation: Department of Ophthalmology, Medical University Graz, Graz, Austria.
authors.forename: Beate J
authors.initials: BJ
authors.lastname: Wegscheider
authors.forename: Martin
authors.initials: M
authors.lastname: Weger
authors.forename: Wilfried
authors.initials: W
authors.lastname: Renner
authors.forename: Iris
authors.initials: I
authors.lastname: Steinbrugger
authors.forename: Winfried
authors.initials: W
authors.lastname: März
authors.forename: Georg
authors.initials: G
authors.lastname: Mossböck
authors.forename: Werner
authors.initials: W
authors.lastname: Temmel
authors.forename: Yosuf
authors.initials: Y
authors.lastname: El-Shabrawi
authors.forename: Otto
authors.initials: O
authors.lastname: Schmut
authors.forename: Renate
authors.initials: R
authors.lastname: Jahrbacher
authors.forename: Anton
authors.initials: A
authors.lastname: Haas
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution / Q000235:genetics; D016022:Case-Control Studies; D017242:Complement Factor H / Q000235:genetics*; D005122:Exudates and Transudates; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000145:classification / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D012307:Risk Factors; D044465:White People
chemical_list: D017242:Complement Factor H