Research Papers:

Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: significant association of twelve variants

Raffaella Cascella _, Claudia Strafella, Giuliana Longo, Michele Ragazzo, Laura Manzo, Cecilia De Felici, Valeria Errichiello, Valerio Caputo, Francesco Viola, Chiara Maria Eandi, Giovanni Staurenghi, Andrea Cusumano, Silvestro Mauriello, Luigi Tonino Marsella, Cinzia Ciccacci, Paola Borgiani, Federica Sangiuolo, Giuseppe Novelli, Federico Ricci and Emiliano Giardina

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Oncotarget. 2018; 9:7812-7821. https://doi.org/10.18632/oncotarget.23241

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Raffaella Cascella1,2,#, Claudia Strafella3,4,#, Giuliana Longo3, Michele Ragazzo1,5, Laura Manzo3,4, Cecilia De Felici6, Valeria Errichiello3, Valerio Caputo3, Francesco Viola7, Chiara Maria Eandi8, Giovanni Staurenghi9, Andrea Cusumano6, Silvestro Mauriello3, Luigi Tonino Marsella3, Cinzia Ciccacci3, Paola Borgiani3, Federica Sangiuolo3, Giuseppe Novelli3, Federico Ricci6,* and Emiliano Giardina1,3,*

1Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy

2Department of Chemical Pharmaceutical and Biomolecular Technologies, Catholic University Our Lady of Good Counsel, Tirane, Albania

3Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy

4Emotest Laboratory, Pozzuoli, Italy

5Department of Medical Science, Catholic University Our Lady of Good Counsel, Tirane, Albania

6UOSD Retinal Pathology PTV Foundation Policlinico Tor Vergata, Rome, Italy

7U.O. Oculist Foundation IRCCS Cà Granda Maggiore General Hospital, University of Milan, Milan, Italy

8Department of Clinical Physiopathology, Eye Clinic, University of Turin, Turin, Italy

9Eye Clinic, Department of Clinical Science Luigi Sacco, Luigi Sacco Hospital, University of Milan, Milan, Italy

#The authors contributed equally to this manuscript

*These authors contributed equally to this work

Correspondence to:

Raffaella Cascella, email: [email protected]

Keywords: age related macular degeneration; macula; susceptibility; genomic and non-genomic factors

Received: October 05, 2017     Accepted: December 01, 2017     Published: December 12, 2017


Age-related Macular Degeneration (AMD) represents one of the most sight-threatening diseases in developed countries that substantially impacts the patients’ lifestyle by compromising everyday activities, such as reading and driving. In this context, understanding the prevalence, burden, and population-specific risk/protective factors of AMD is essential for adequate health care planning and provision. Our work aimed to characterize exudative AMD in Italian population and to identify the susceptibility/protective factors (genetic variants, age, sex, smoking and dietary habits) which are specific for the onset of disease. Our study involved a cohort of 1976 subjects, including 976 patients affected with exudative AMD and 1000 control subjects. In particular, the sample cohort has been subjected to a large genotyping analysis of 20 genetic variants which are known to be associated with AMD among European and Asiatic populations. This analysis revealed that 8 genetic variants (CFH, ARMS2, IL-8, TIMP3, SLC16A8, RAD51B, VEGFA and COL8A1) were significantly associated with AMD susceptibility. Successively, we performed a multivariate analysis, considering both genetic and non-genetic data available for our sample cohort. The multivariate analysis showed that age, smoking, dietary habits and sex, together with the genetic variants, were significantly associated with AMD in our population. Altogether, these data represent a starting point for the set-up of adequate preventive and personalized strategies aimed to decrease the burden of disease and improve the patients’ quality of life.

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