title: Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism.
abstract: OBJECTIVE
  To compare phenotypes of 2 age-related macular degeneration (AMD) susceptibility genes: LOC387715 and complement factor H (CFH).
  
  
  METHODS
  Phenotypes of 755 AMD cases were characterized. The number of LOC387715 (T allele at rs10490924, or A69S) and CFH (T1277C at rs1061170, or Y402H) risk alleles were determined in each case. Individuals were divided into 5 groups by genotype: group 1, LOC-/- CFH-/-; group 2, LOC+/- CFH-/- or LOC+/+ CFH-/-; group 3, LOC-/- CFH+/- or LOC-/- CFH+/+; group 4, LOC+/- CFH+/-, LOC+/+ CFH+/-, or LOC+/- CFH+/+; and group 5, LOC+/+ CFH+/+.
  
  
  RESULTS
  Signs of neovascular AMD including grade (P = .002), pigment epithelial detachment (P = .001), and subretinal hemorrhage (P<.001) demonstrated significant association with groups 2, 4, and 5 vs groups 1 and 3. Group 5 had a significantly younger mean age (72.3 years) compared with other groups (P = .002).
  
  
  CONCLUSIONS
  The AMD cases possessing the LOC387715 (rs10490924) variant may have a higher risk of neovascular AMD. Individuals with AMD who are homozygous for both variants might be at greater risk for earlier onset of neovascular AMD.
authors.affiliation: Eye Center and Center for Human Genetics, Duke University, Durham, NC, USA.
authors.forename: R Keith
authors.initials: RK
authors.lastname: Shuler
authors.forename: Michael A
authors.initials: MA
authors.lastname: Hauser
authors.forename: Jennifer
authors.initials: J
authors.lastname: Caldwell
authors.forename: Paul
authors.initials: P
authors.lastname: Gallins
authors.forename: Silke
authors.initials: S
authors.lastname: Schmidt
authors.forename: William K
authors.initials: WK
authors.lastname: Scott
authors.forename: Anita
authors.initials: A
authors.lastname: Agarwal
authors.forename: Jonathan L
authors.initials: JL
authors.lastname: Haines
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: Eric A
authors.initials: EA
authors.lastname: Postel
mesh_terms: D000368:Aged; D000483:Alleles; D020256:Choroidal Neovascularization / Q000235:genetics*; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H