Age-related Macular Degeneration (AMD) represents one of the most sightthreatening 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.

Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration : significant association of twelve variants / R. Cascella, C. Strafella, G. Longo, M. Ragazzo, L. Manzo, C. De Felici, V. Errichiello, V. Caputo, F. Viola, C.M. Eandi, G. Staurenghi, A. Cusumano, S. Mauriello, L.T. Marsella, C. Ciccacci, P. Borgiani, F. Sangiuolo, G. Novelli, F. Ricci, E. Giardina. - In: ONCOTARGET. - ISSN 1949-2553. - 9:8(2018), pp. 7812-7821. [10.18632/oncotarget.23241]

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

F. Viola;G. Staurenghi;
2018

Abstract

Age-related Macular Degeneration (AMD) represents one of the most sightthreatening 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.
Age related macular degeneration; Genomic and non-genomic factors; Macula; Susceptibility; Oncology
Settore MED/30 - Malattie Apparato Visivo
Settore MED/03 - Genetica Medica
Article (author)
File in questo prodotto:
File Dimensione Formato  
ONCOTARGET 2018- biomarker in amd.pdf

accesso aperto

Tipologia: Publisher's version/PDF
Dimensione 825.17 kB
Formato Adobe PDF
825.17 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/559177
Citazioni
  • ???jsp.display-item.citation.pmc??? 25
  • Scopus 30
  • ???jsp.display-item.citation.isi??? ND
social impact