title: Complement factor H Y402H gene polymorphism and response to intravitreal bevacizumab in exudative age-related macular degeneration.
abstract: OBJECTIVE
  To determine whether different complement factor H (CFH) genotypes play a role in treatment of age-related macular degeneration (AMD) with intravitreal bevacizumab.
  
  
  METHODS
  In this prospective study, we included 197 patients with exudative AMD and treated with 1.25 mg intravitreal bevacizumab at 6-week intervals until choroidal neovascularization (CNV) was no longer active. In all patients, ophthalmological examinations, visual acuity, optical coherence tomography (OCT), fundus photography and fluorescein angiography were performed. Single nucleotide polymorphism (SNP) genotyping was performed using restriction fragment length polymorphism (RFLP) analysis of polymerase chain reaction (PCR) products.
  
  
  RESULTS
  Age, gender and baseline mean visual acuity were similar among the three CFH genotypes. There was no significant difference in underlying lesion type of CNV, lesion size, number of injections or macula thickness. When examining the effect of genotype on post-treatment visual acuities, we observed a significant worse outcome for distance and reading visual acuity in the CFH 402HH genotype group. The number of patients who lost 3 or more lines in distance and reading visual acuity testing was significantly higher in the CFH 402HH (41%, 46%) genotype group than in patients with the CFH 402YY (28%, 26%) and CFH 402YH (26%, 24%) genotype.
  
  
  CONCLUSIONS
  In addition to the higher risk for exudative AMD in patients with the CFH 402HH genotype that was found in previous studies, our results show that the CFH 402HH genotype also correlates with lower visual acuity outcome after treatment with bevacizumab, suggesting that pharmacogenetics of CFH plays a role in response to treatment of wet AMD.
authors.affiliation: Department of Ophthalmology, Paracelsus Private Medical University Salzburg, Salzburg, Austria. c.nischler@salk.at
authors.forename: Christian
authors.initials: C
authors.lastname: Nischler
authors.forename: Hannes
authors.initials: H
authors.lastname: Oberkofler
authors.forename: Christoph
authors.initials: C
authors.lastname: Ortner
authors.forename: Doris
authors.initials: D
authors.lastname: Paikl
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Riha
authors.forename: Nora
authors.initials: N
authors.lastname: Lang
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Patsch
authors.forename: Stefan F
authors.initials: SF
authors.lastname: Egger
mesh_terms: D000368:Aged; D020533:Angiogenesis Inhibitors / Q000008:administration & dosage*; D000911:Antibodies, Monoclonal / Q000008:administration & dosage*; D061067:Antibodies, Monoclonal, Humanized; D000068258:Bevacizumab; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005838:Genotype; D006801:Humans; D058449:Intravitreal Injections; D008297:Male; D010597:Pharmacogenetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D041623:Tomography, Optical Coherence; D042461:Vascular Endothelial Growth Factor A / Q000037:antagonists & inhibitors; D014792:Visual Acuity / Q000502:physiology; D057135:Wet Macular Degeneration / Q000188:drug therapy* / Q000235:genetics*
chemical_list: D020533:Angiogenesis Inhibitors; D000911:Antibodies, Monoclonal; D061067:Antibodies, Monoclonal, Humanized; C493495:CFH protein, human; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; D000068258:Bevacizumab; D017242:Complement Factor H