Role of risk alleles in the pathogenesis of neovascular age-related macular degeneration.

Age-related macular degeneration (AMD) is one of the leading causes of severe irreversible blindness worldwide in the elderly population. AMD is a multifactorial disease mainly caused by advanced age, environmental factors, and genetic variations. Genome-wide association studies (GWAS) have strongly supported the link between locus on chromosome 10q26 and AMD development, encompassing multiple variants, rs10490924 (c.205G > T, p.A69S in ), insertion/deletion (del443/ins54 in ), and rs11200638 (in promoter region). In this comprehensive review, we provide an overview of the role played by risk alleles in neovascular AMD pathogenesis, covering GWAS, studies, and animal models, shedding light on their underlying molecular genetic mechanisms. Further extensive research is also imperative, including confirmation of these findings, identifying novel treatment targets, and advancing primary and secondary prevention strategies for AMD.