Polymorphism rs11200638 enhanced HtrA1 responsiveness and expression are associated with age-related macular degeneration.
Fen HeXiaohong LiSuping CaiLan LuTong ZhangMing YangNing FanXizhen WangXuyang LiuPublished in: Eye (London, England) (2021)
Risk haplotype A at rs11200638 significantly increased the responsiveness of HtrA1 promoter to inflammation and subsequently enhanced HtrA1 expression. HtrA1 overexpression induced ARPE-19 apoptosis and growth inhibition, relevant to pathogenesis of AMD.