title: CFH polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration.
abstract: OBJECTIVE
  To elucidate the potential role of single-nucleotide polymorphisms (SNPs) in complement factor H (CFH) gene in Northern Spanish patients with age-related macular degeneration (AMD).
  
  
  METHODS
  A case-control study of 130 unrelated native Northern Spanish diagnosed with AMD (46 dry, 35 neovascular and 49 mixed) and 96 healthy controls matched by age and ethnicity were enrolled. DNA was isolated from peripheral blood and genotyped for AMD-associated SNPs (rs3753394, rs529825, rs800292, rs3766404, rs203674, rs10671170, rs3753396 and rs1065489) using TaqMan probes and restriction fragment length polymorphism (RFLP). The association study was performed using the HaploView 4.0 software.
  
  
  RESULTS
  The allelic frequency analysis revealed that rs529825, rs800292, rs203674 and rs10671170 were significantly associated with an increased risk for AMD. The haplotypes CGG (rs3753394, rs529825 and rs800292) and GCAG (rs203674, rs1061170, rs3753396 and rs1065489) were significantly associated with AMD while the haplotypes CAA (rs3753394, rs529825 and rs800292) and TTAG (rs203674, rs1061170, rs3753396 and rs1065489) were found to be protective. Small differ-ences in allelic frequencies were found between dry and neovascular cases; however, these differences were not significant and did not distinguish one form the other.
  
  
  CONCLUSIONS
  This study found significant association of SNPs rs529825, rs800292, rs203674 and rs1061170 in the CFH gene with susceptibility to AMD. We identified haplotypes that confer protection or increased risk of AMD but not specific genetic variants in CFH capable to distinguish the different clinical forms of AMD in this cohort. Collectively, our results confirmed that CFH represents a strong genetic risk factor for this disease in the Northern Spanish population.
authors.affiliation: Foundation of Ophthalmological Investigation, Fernández-Vega Ophthalmological Institute, Oviedo, Spain.
authors.forename: Montserrat
authors.initials: M
authors.lastname: García
authors.affiliation: Foundation of Ophthalmological Investigation, Fernández-Vega Ophthalmological Institute, Oviedo, Spain.
authors.forename: Lydia
authors.initials: L
authors.lastname: Álvarez
authors.affiliation: Foundation of Ophthalmological Investigation, Fernández-Vega Ophthalmological Institute, Oviedo, Spain.
authors.forename: Alicja M
authors.initials: AM
authors.lastname: Nogacka
authors.affiliation: Foundation of Ophthalmological Investigation, Fernández-Vega Ophthalmological Institute, Oviedo, Spain.
authors.forename: Héctor
authors.initials: H
authors.lastname: González-Iglesias
authors.affiliation: Laboratory of Human Molecular Genetics, Faculty of Medicine/Institute of Investigation in Neurological Disabilities (IDINE), University of Castilla-La Mancha, Albacete, Spain.
authors.forename: Julio
authors.initials: J
authors.lastname: Escribano
authors.affiliation: Foundation of Ophthalmological Investigation, Fernández-Vega Ophthalmological Institute, Oviedo, Spain.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Fernández-Vega
authors.affiliation: Foundation of Ophthalmological Investigation, Fernández-Vega Ophthalmological Institute, Oviedo, Spain.
authors.forename: Álvaro
authors.initials: Á
authors.lastname: Fernández-Vega
authors.affiliation: Foundation of Ophthalmological Investigation, Fernández-Vega Ophthalmological Institute, Oviedo, Spain.
authors.forename: Luis
authors.initials: L
authors.lastname: Fernández-Vega
authors.affiliation: Foundation of Ophthalmological Investigation, Fernández-Vega Ophthalmological Institute, Oviedo, Spain.|Department of Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Miguel
authors.initials: M
authors.lastname: Coca-Prados
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D060005:Genotyping Techniques; D057092:Geographic Atrophy / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013030:Spain / Q000453:epidemiology; D057135:Wet Macular Degeneration / Q000453:epidemiology / Q000235:genetics*
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H
keywords: CFH gene; Neovascular; Northern Spanish population; age-related macular degeneration; dry AMD; genetic association; haplotypes; single-nucleotide polymorphism