title: Clinical phenotypes associated with the complement factor H Y402H variant in age-related macular degeneration.
abstract: OBJECTIVE
  To determine whether the complement factor H (CFH) Y402H variant is associated with specific age-related macular degeneration (AMD) clinical phenotypes.
  
  
  METHODS
  Retrospective, case-control study.
  
  
  METHODS
  One hundred and eighty-eight white subjects with AMD and 189 control subjects were genotyped for the T-to-C polymorphism in exon 9 of the CFH gene by restriction-fragment length analysis and deoxyribonucleic acid (DNA) sequencing using genomic DNA from mouthwash samples. AMD phenotypes were characterized by clinical examination, fundus photography, and fluorescein angiography.
  
  
  RESULTS
  Heterozygosity for the at-risk genotype (TC) increased the likelihood for AMD 2.1-fold (95% confidence interval [CI], 1.3 to 3.3), whereas homozygosity for the genotype (CC) increased the likelihood for AMD 6.5-fold (95% CI, 3.4 to 12.5) in our population. The C allele was associated significantly with predominantly classic choroidal neovascularization (odds ratio [OR], 2.01; 95% CI, 1.34 to 3.30). Neovascular lesion size was similar among the three genotypes (P = .67).
  
  
  CONCLUSIONS
  The Y402H CFH variant carried a significantly increased risk for developing AMD in our population. Genotype and phenotype correlations regarding choroidal neovascular lesion type were observed.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, Missouri 63110, USA. brantley@vision.wustl.edu
authors.forename: Milam A
authors.initials: MA
authors.lastname: Brantley
authors.forename: Sean L
authors.initials: SL
authors.lastname: Edelstein
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: King
authors.forename: Rajendra S
authors.initials: RS
authors.lastname: Apte
authors.forename: Steven M
authors.initials: SM
authors.lastname: Kymes
authors.forename: Alan
authors.initials: A
authors.lastname: Shiels
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D020256:Choroidal Neovascularization / Q000175:diagnosis / Q000235:genetics; D017242:Complement Factor H / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D017422:Sequence Analysis, DNA
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H