並列タイトル等GLIS1 regulates trabecular meshwork function and intraocular pressure and is associated withglaucoma in humans.
一般注記type:Other
Chronically elevated intraocular pressure (IOP) is the major risk factorof primary open-angle glaucoma, a leading cause of lindness. Dysfunctionof the trabecular meshwork (TM), which controls the outflow of aqueoushumor (AqH) from the anterior chamber, is the major cause of elevated IOP.Here, we demonstrate that mice ficient in the Krüppel-like zinc fingertranscriptional factor GLI-similar-1 (GLIS1) develop chronically elevatedIOP. Magnetic resonance aging and histopathological analysis reveal thatdeficiency in GLIS1 expression induces progressive degeneration of the TM,eading to inefficient AqH drainage from the anterior chamber and elevatedIOP. Transcriptome and cistrome analyses identified several glaucoma- andextracellular matrix-associated genes as direct transcriptional targets ofGLIS1. We also identified a significant association between GLIS1 variantrs941125 and glaucoma in humans (P = 4.73 × 10−6), further supporting arole for GLIS1 into laucoma etiology. Our study identifies GLIS1 as acritical legulator of TM function and maintenance, AqH dynamics, and IOP.
identifier:http://reposit.sun.ac.jp/dspace/handle/10561/1945
一次資料へのリンクURLhttp://reposit.sun.ac.jp/dspace/bitstream/10561/1945/1/R3%e3%82%b7_okamoto.pdf
連携機関・データベース国立情報学研究所 : 学術機関リポジトリデータベース(IRDB)(機関リポジトリ)