京都大学 · 医学
Yamashiro教授の研究室は、加齢黄斑変性症（AMD）の遺伝的背景に注目し、特にCFH、ARMS2遺伝子の変異とAMDの亜型（乾性AMD、PCV、RAP）との関連を解析しています。特に、CFH Y402HやARMS2 A69Sといった遺伝子多型がAMDの発症に与える影響を解明しており、PCVやRAPがtAMDとは異なる遺伝的背景を持つ可能性を示唆しています。
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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