Kyoto University · Medicine
Professor Kenji Yamashiro's research lab focuses on the genetic and molecular mechanisms underlying age-related macular degeneration (AMD) and its subtypes, including neovascular AMD (nAMD), polypoidal choroidal vasculopathy (PCV), and retinal angiomatous proliferation (RAP). The lab employs genome-wide association studies and functional genomics to identify susceptibility loci and elucidate the biological pathways involved in disease progression. A key focus is on understanding the genetic heterogeneity among AMD subtypes, particularly the distinct roles of variants in genes such as CFH, ARMS2, and others in disease pathogenesis. The lab's work aims to improve disease classification, enable early diagnosis, and support the development of targeted therapies.
Figures are computed from collected data and may differ slightly.
CFH Y402H is associated with AMD, tAMD, and PCV, whereas I62V is associated with all three subtypes. ARMS2 A69S has a strong association with all three subtypes, with the association being strongest for RAP and weakest for PCV. PCV and RAP may thus be subtypes of AMD that are genetically distinct from tAMD.
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