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Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population
  1. F Simonelli1,
  2. G Frisso2,3,
  3. F Testa1,
  4. R di Fiore2,3,
  5. D F Vitale4,
  6. M P Manitto5,
  7. R Brancato5,
  8. E Rinaldi1,
  9. L Sacchetti2,3
  1. 1Dipartimento di Oftalmologia, Second University of Naples, Italy
  2. 2Dipartimento di Biochimica e Biotecnologie Mediche, Naples University “Federico II”, Italy
  3. 3CEINGE–Biotecnologie Avanzate, Naples, Italy
  4. 4Fondazione Salvatore Maugeri, Istituto IRCCS, Campoli Telese T, Benevento, Italy
  5. 5Dipartimento di Oftalmologia H.S.R, Milan University, Italy
  1. Correspondence to: Professor Lucia Sacchetti Dipartimento di Biochimica e Biotecnologie Mediche, University of Naples “Federico II”, Via S Pansini 5, 80131 Naples, Italy; sacchetti{at}dbbm.unina.it

Abstract

Aims: To evaluate the complement factor H (CFH) p.402Y>H polymorphism as a risk factor in age related macular degeneration (AMD) in an Italian population.

Methods: 104 unrelated Italian AMD patients and 131 unrelated controls were screened for the CFH polymorphism p.402Y>H (c.1277 T>C), which has been associated with AMD. Retinography was obtained for patients and controls; the AMD diagnosis was confirmed by fluorescein angiograms. The c.1277 T>C polymorphism was genotyped with the TaqMan real time polymerase chain reaction single nucleotide polymorphism assay.

Results: The frequency of c.1277C allele was higher in AMD patients than in controls (57.2% v 39.3%; p<0.001). The odds ratio (OR; logistic regression analysis) for AMD was 3.9 (95% confidence interval (CI): 1.9 to 8.2) for CC homozygotes. The CC genotype conferred a higher risk for sporadic (OR 4.6; CI: 2.0 to 10.5) than for familial AMD (OR 2.9; CI: 1.0 to 8.4). Genotypes were not related to either age at AMD diagnosis or to AMD phenotype. However, geographic atrophy and choroidal neovascularisation were more frequent in sporadic than in familial AMD (p = 0.027). Overall, the percentage of population attributable risk for the CC genotype was 28% (95% CI:18% to 33%).

Conclusion: The association between the p.402Y>H (c.1277T>C) polymorphism and AMD applies to the Italian population and the CC genotype is more frequent in sporadic than in familial AMD cases.

  • AMD, age related macular degeneration
  • CFH, complement factor H
  • age related macular degeneration
  • polymorphisms
  • complement factor H
  • Italy
  • AMD, age related macular degeneration
  • CFH, complement factor H
  • age related macular degeneration
  • polymorphisms
  • complement factor H
  • Italy

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Footnotes

  • Competing interests: none.

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