Abstract
Age-related macular degeneration (AMD) is the most common cause of visual loss in developed countries, with a significant economic and social burden on public health. Although genome-wide and gene-candidate studies have been enabled to identify genetic variants in the complement system associated with AMD pathogenesis, the effect of gene-environment interaction is still under debate. In this review we provide an overview of the role of complement system and its genetic variants in AMD, summarizing the consequences of the interaction between genetic and environmental risk factors on AMD onset, progression, and therapeutic response. Finally, we discuss the perspectives of current evidence in the field of genomics driven personalized medicine and public health.
Highlights
Age-related macular degeneration (AMD), characterized by the progressive destruction of neurosensory retina at the macular area, is the most common cause of visual loss in developed countries, with a significant economic and social burden on public health [1]
The advanced stages manifest as choroidal neovascularization (CNV) in the wet AMD, or geographic atrophy (GA) in the dry AMD [3]
A more recent meta-analysis stratified by stage of disease and ethnicity, including data of 27418 AMD patients and 32843 controls, stated that the polymorphism is significantly associated with AMD: in Caucasian the mutated allele confers a 1.44 risk of early AMD, a 2.90 risk of dry AMD and a 2.46 risk of wet AMD; in Asians, the mutated allele seems to be associated only with wet AMD [100]
Summary
Age-related macular degeneration (AMD), characterized by the progressive destruction of neurosensory retina at the macular area, is the most common cause of visual loss in developed countries, with a significant economic and social burden on public health [1]. Smoking is the strongest modifiable risk factor for AMD, leading to oxidative stress, ischemia, hypoxia, and neovascularization [6]. Both current and former smoking may increase AMD risk, a protective effect has been observed for time since smoking cessation [7]. The discovery of genetic variants in components of the complement system indicated the potential role of local inflammation and complement regulation in the pathogenesis of AMD [36] Given this scenario, the perspective of personalized medicine for the prevention and treatment of AMD requires a more accurate evidence-based knowledge of gene-environment interactions. We discuss the perspectives of current evidence in the field of genomics driven personalized medicine
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
