Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: significant association of twelve variants
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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
Raffaella Cascella, email: email@example.com
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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