title: Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients.
abstract: Two major susceptibility genes, complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2), have been implicated in age-related macular degeneration (AMD) pathogenesis. We analyzed the association between CFH rs1061170 and/or ARMS2 rs10490924 polymorphisms with central retinal function properties, as evaluated by focal electroretinogram (fERG). Forty early AMD patients, with preserved visual acuity and typical macular lesions, underwent fERG recording (in response to 41 Hz flicker stimuli presented to the central 18 degrees) and CFH/ARMS2 genotyping. Mean fERG amplitude and sensitivity decreased in patients carrying CFH rs1061170 polymorphism (p < 0.01), compared with wild type ones, although visual acuity and funduscopic features were similar across the 2 groups. No significant fERG phase changes were observed. No association was detected between ARMS2 (rs10490924) polymorphism and fERG parameters. Our findings indicate that CFH (rs1061170) polymorphism impacts significantly on retinal function in early AMD patients, and support the hypothesis that dysfunctional CFH might result in early retinal function loss due to a reduction in the immune antioxidant defense mechanism.
authors.affiliation: Istituto di Biochimica Clinica, Università Cattolica del S Cuore, Rome, Italy.
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
authors.forename: Paola
authors.initials: P
authors.lastname: Concolino
authors.forename: Marco
authors.initials: M
authors.lastname: Piccardi
authors.forename: Dario
authors.initials: D
authors.lastname: Marangoni
authors.forename: Enrica
authors.initials: E
authors.lastname: Mello
authors.forename: Angelo Maria
authors.initials: AM
authors.lastname: Minnella
authors.forename: Cristina
authors.initials: C
authors.lastname: Savastano
authors.forename: Antonello
authors.initials: A
authors.lastname: Fadda
authors.forename: Cecilia
authors.initials: C
authors.lastname: Zuppi
authors.forename: Silvia
authors.initials: S
authors.lastname: Bisti
authors.forename: Benedetto
authors.initials: B
authors.lastname: Falsini
mesh_terms: D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D017242:Complement Factor H / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008268:Macular Degeneration / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010865:Pilot Projects; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D011506:Proteins / Q000235:genetics*; D012307:Risk Factors
chemical_list: C514392:ARMS2 protein, human; D005819:Genetic Markers; D011506:Proteins; D017242:Complement Factor H