Towards the application of precision medicine in Age-Related Macular Degeneration

Raffaella Cascella, Claudia Strafella, Valerio Caputo, Valeria Errichiello, Stefania Zampatti, Filippo Milano, Saverio Potenza, Silvestro Mauriello, Giuseppe Novelli, Federico Ricci, Andrea Cusumano, Emiliano Giardina

Research output: Contribution to journalArticle


The review essentially describes genetic and non-genetic variables contributing to the onset and progression of exudative Age-related Macular Degeneration (AMD) in Italian population. In particular, AMD susceptibility within Italian population is contributed to by genetic variants, accounting for 23% of disease and non-genetic variants, accounting for 10% of AMD. Our data highlighted prominent differences concerning genetic and non-genetic contributors to AMD in our cohort with respect to worldwide populations. Among genetic variables, SNPs of CFH, ARMS2, IL-8, TIMP3, SLC16A8, RAD51B, VEGFA and COL8A1 were significantly associated with the risk of AMD in the Italian cohort. Surprisingly, other susceptibility variants described in European, American and Asiatic populations, did not reach the significance threshold in our cohort. As expected, advanced age, smoking and dietary habits were associated with the disease. In addition, we also describe a number of gene-gene and gene-phenotype interactions. In fact, AMD-associated genes may be involved in the alteration of Bruch's membrane and induction of angiogenesis, contributing to exacerbate the damage caused by aging and environmental factors.Our review provides an overview of genetic and non-genetic factors characterizing AMD susceptibility in Italian population, outlining the differences with respect to the worldwide populations. Altogether, these data reflect historical, geographic, demographic and lifestyle peculiarities of Italian population. The role of epigenetics, pharmacogenetics, comorbities and genetic counseling in the management of AMD patients have been described, in the perspective of the application of a "population-specific precision medicine" approach addressed to prevent AMD onset and improve patients' quality of life.

Original languageEnglish
JournalProgress in Retinal and Eye Research
Publication statusAccepted/In press - Jan 1 2017


  • Gene interactions
  • Genetics
  • Macular degeneration
  • Populations
  • Susceptibility

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

Fingerprint Dive into the research topics of 'Towards the application of precision medicine in Age-Related Macular Degeneration'. Together they form a unique fingerprint.

  • Cite this

    Cascella, R., Strafella, C., Caputo, V., Errichiello, V., Zampatti, S., Milano, F., Potenza, S., Mauriello, S., Novelli, G., Ricci, F., Cusumano, A., & Giardina, E. (Accepted/In press). Towards the application of precision medicine in Age-Related Macular Degeneration. Progress in Retinal and Eye Research.