Age-Related Macular Degeneration
Por Weiye Li
"This book tries to update the basic understanding of AMD genetics and the interplay between genetic and environmental factors in the pathogenesis of AMD. In the early 21st century, the Human Genome Project was completed. It provided a necessary map of the human genome, onto which polymorphism data had been collected over years. Genome-wide single-nucleotide polymorphic association studies with AMD case-control cohorts discovered the association of a variant (Y402H) in the complement factor H ( CFH ) gene with late-stage AMD in 2005. 1 This discovery opened the gate of AMD molecular genetics and pointed out the association between genetic risk factor, that is, tyrosine-histidine polymorphism, and underlying mechanisms of AMD, such as drusen formation, alternative complement pathway activation, and complement-mediated inflammation. In recent years, the molecular mechanistic link between complement dysregulation and AMD pathobiology has been investigated in great depth. 2 Meanwhile epidemiological studies from AREDS1 to AREDS2 have revealed that age and smoking are important environmental risk factors for AMD. Expectedly, the interaction between environmental factors such as dietary supplements in AREDS2 and genotype of patients with AMD is complex. Future studies in larger populations that include different stages of AMD, focusing on the identification of rare and potentially highly penetrant variants in the genes that already have been implicated from common loci, are essential. Studies in molecular genetics and molecular pathobiology have elucidated key pathogenic events of AMD, which include oxidative stress, radical oxygen species generation, inflammation, complement/inflammasome activation, dysfunctional autophagy, programmed cell death, and pathological angiogenesis."
ISBN: 9780128220610
Fecha de publicación: 2021-03-26