Towards the application of precision medicine in age-related Macular Degeneration

Publication date: Available online 29 November 2017 Source:Progress in Retinal and Eye Research Author(s): Raffaella Cascella, Claudia Strafella, Valerio Caputo, Valeria Errichiello, Stefania Zampatti, Filippo Milano, Saverio Potenza, Silvestro Mauriello, Giuseppe Novelli, Federico Ricci, Andrea Cusumano, Emiliano Giardina 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 da...
Source: Progress in Retinal and Eye Research - Category: Opthalmology Source Type: research