https://tanigawalab.org/tags/glaucoma/GlaucomaHugo Blox Builder (https://hugoblox.com)enTue, 01 Sep 2020 00:00:00 +0000https://tanigawalab.org/media/logo_hu_6ec5cb994dd998e6.pnghttps://tanigawalab.org/tags/glaucoma/https://tanigawalab.org/publications/2020/angptl7/Tue, 01 Sep 2020 00:00:00 +0000https://tanigawalab.org/publications/2020/angptl7/<p>From the analysis of more than 500,000 individuals in population cohorts, we identified rare protein-altering variants in ANGPTL7 that reduce the risk of glaucoma. <figure > <div class="flex justify-center "> <div class="w-full" ><img src="https://tanigawalab.org/publications/2020/angptl7/angptl7-1.jpg" alt="Analysis 1-3" loading="lazy" data-zoomable /></div> </div></figure> We identified rare protein-altering variants in ANGPTL7 that lower intraocular pressure and provide protection against glaucoma. <figure > <div class="flex justify-center "> <div class="w-full" ><img src="https://tanigawalab.org/publications/2020/angptl7/angptl7-2.png" alt="Analysis 1-3" loading="lazy" data-zoomable /></div> </div></figure> One of the alleles reported in the study (220C) is highly (50x +) enriched in the Finnish population, highlighting the power of a founder population with a prior bottlenecking event in genetic discovery.</p> <p>With the comprehensive health information in the two studied cohorts, we assess the potential impact of the rare variants on a spectrum of human disorders. We did not find any severe medical consequences.</p> <p>Our results indicate that ANGPTL7 is a safe and effective therapeutic target for glaucoma.</p>