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Towards the application of precision medicine in Age-Related Macular Degeneration
- Source :
- Progress in Retinal and Eye Research. 63:132-146
- Publication Year :
- 2018
- Publisher :
- Elsevier BV, 2018.
-
Abstract
- 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.
- Subjects :
- 0301 basic medicine
Genotype
genetic structures
Genetic counseling
Single-nucleotide polymorphism
Disease
Macular Degeneration
03 medical and health sciences
0302 clinical medicine
Risk Factors
Humans
Medicine
Genetic Predisposition to Disease
Precision Medicine
business.industry
Macular degeneration
Precision medicine
medicine.disease
eye diseases
Sensory Systems
Ophthalmology
Phenotype
030104 developmental biology
Settore MED/03 - Genetica Medica
Pharmacogenetics
Cohort
030221 ophthalmology & optometry
sense organs
business
Demography
Subjects
Details
- ISSN :
- 13509462
- Volume :
- 63
- Database :
- OpenAIRE
- Journal :
- Progress in Retinal and Eye Research
- Accession number :
- edsair.doi.dedup.....d031ffc00225db7485895126da40b6f4