title: The complement component 5 gene and age-related macular degeneration.
abstract: OBJECTIVE
  To investigate the association between variants in the complement component 5 (C5) gene and age-related macular degeneration (AMD).
  
  
  METHODS
  Separate and combined data from 3 large AMD case-control studies and a prospective population-based study (The Rotterdam Study).
  
  
  METHODS
  A total of 2599 AMD cases and 3458 ethnically matched controls.
  
  
  METHODS
  Fifteen single nucleotide polymorphisms (SNPs) spanning the C5 gene were initially genotyped in 375 cases and 199 controls from The Netherlands (The Amsterdam/Rotterdam-Netherlands [AMRO-NL] study population). Replication testing of selected SNPs was performed in the Rotterdam Study (NL) and study populations from Southampton, United Kingdom (UK), and New York, United States (US).
  
  
  METHODS
  Early and late stages of prevalent and incident AMD, graded according to (a modification of) the international grading and classification system of AMD.
  
  
  RESULTS
  Significant allelic or genotypic associations between 8 C5 SNPs and AMD were found in the AMRO-NL study and this risk seemed to be independent of CFH Y402H, LOC387715 A69S, age, and gender. None of these findings could be confirmed consistently in 3 replication populations.
  
  
  CONCLUSIONS
  Although the complement pathway, including C5, plays a crucial role in AMD, and the C5 protein is present in drusen, no consistent significant associations between C5 SNPs and AMD were found in any of these studies. The implications for genetic screening of AMD are discussed.
authors.affiliation: Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences (KNAW), Amsterdam, The Netherlands.
authors.forename: Dominique C
authors.initials: DC
authors.lastname: Baas
authors.forename: Lintje
authors.initials: L
authors.lastname: Ho
authors.forename: Sarah
authors.initials: S
authors.lastname: Ennis
authors.forename: Joanna E
authors.initials: JE
authors.lastname: Merriam
authors.forename: Michael W T
authors.initials: MW
authors.lastname: Tanck
authors.forename: André G
authors.initials: AG
authors.lastname: Uitterlinden
authors.forename: Paulus T V M
authors.initials: PT
authors.lastname: de Jong
authors.forename: Angela J
authors.initials: AJ
authors.lastname: Cree
authors.forename: Helen L
authors.initials: HL
authors.lastname: Griffiths
authors.forename: Fernando
authors.initials: F
authors.lastname: Rivadeneira
authors.forename: Albert
authors.initials: A
authors.lastname: Hofman
authors.forename: Cornelia
authors.initials: C
authors.lastname: van Duijn
authors.forename: R Theodore
authors.initials: RT
authors.lastname: Smith
authors.forename: Gaetano R
authors.initials: GR
authors.lastname: Barile
authors.forename: Theo G M F
authors.initials: TG
authors.lastname: Gorgels
authors.forename: Johannes R
authors.initials: JR
authors.lastname: Vingerling
authors.forename: Caroline C W
authors.initials: CC
authors.lastname: Klaver
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Lotery
authors.forename: Rando
authors.initials: R
authors.lastname: Allikmets
authors.forename: Arthur A B
authors.initials: AA
authors.lastname: Bergen
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D003182:Complement C5 / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies
chemical_list: D003182:Complement C5