April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Gene X Environment Interaction Model Of Age Related Macular Degeneration: Integration Of Data From Cfh, Arms2, Il8 And Smoking
Author Affiliations & Notes
  • Federico U. Ricci
    Opthalmology,
    University of Rome Tor Vergata, Rome, Italy
  • Filippo Missiroli
    Opthalmology,
    University of Rome Tor Vergata, Rome, Italy
  • Cecilia De Felici
    Opthalmology,
    University of Rome Tor Vergata, Rome, Italy
  • Vito Gasparri
    Unità Operativa Complessa di Oculistica, Ospedale San Giovanni Calibita Fatebenefratelli Isola Tiberina, Roma, Italy
  • Tiziana Lepre
    Genetic,
    University of Rome Tor Vergata, Rome, Italy
  • Stefania Zampatti
    Genetic,
    University of Rome Tor Vergata, Rome, Italy
  • Chiara Eandi
    Department of Clinical Physiopathology, Eye Clinic, University of Torino, Torino, Italy
  • Emiliano Giardina
    Genetic,
    University of Rome Tor Vergata, Rome, Italy
  • Giuseppe Novelli
    Genetic,
    University of Rome Tor Vergata, Rome, Italy
  • Footnotes
    Commercial Relationships  Federico U. Ricci, None; Filippo Missiroli, None; Cecilia De Felici, None; Vito Gasparri, None; Tiziana Lepre, None; Stefania Zampatti, None; Chiara Eandi, None; Emiliano Giardina, None; Giuseppe Novelli, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 3307. doi:
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      Federico U. Ricci, Filippo Missiroli, Cecilia De Felici, Vito Gasparri, Tiziana Lepre, Stefania Zampatti, Chiara Eandi, Emiliano Giardina, Giuseppe Novelli; Gene X Environment Interaction Model Of Age Related Macular Degeneration: Integration Of Data From Cfh, Arms2, Il8 And Smoking. Invest. Ophthalmol. Vis. Sci. 2011;52(14):3307.

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Abstract

Purpose: : To investigate a possible role for IL8 gene in the susceptibility to age related macular degeneration (AMD). To assess the overall effect of risk alleles of CFH, ARMS2, IL8 and smoking in the Italian population.

Methods: : We performed a case-control study. The 751 Italian subjects recruited for this study were classified in three different groups: the first one includes patients with diagnosis of exudative AMD (case group, n=257), the second, subjects clinically evaluated, without any form of macular degeneration (control group, n=310) and the last one includes subjects not clinically evaluated (general population, n=184).

Results: : We disclosed a new variation associated with AMD in IL8 gene (rs2227326). We robustly confirmed the association between AMD and the two best validated variations in CFH and ARMS2 genes: rs1061170 and del443ins54, respectively. The combination of risk alleles with smoking provided a good model for the calculation of the individual genetic risk

Conclusions: : We detected a new variation associated with macular degeneration: rs2227326 in the IL8. The role of this gene in the pathogenesis of the disease is unclear, although it seems implicated in the degeneration of retinal pigment epithelial cells. These findings, together with the confirmation of CFH and ARMS2 as the two best validated susceptibility genes and with the validation of the risk effect of smoking, enable our ability to predict the individual risk of macular degeneration in the general population.

Keywords: age-related macular degeneration • genetics • gene/expression 
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