Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

Protein-altering variants that are protective against human disease provide in vivo validation of therapeutic targets. Here we use genotyping data from UK Biobank (n = 337,151 unrelated White British individuals) and FinnGen (n = 176,899) to conduct a search for protein-altering variants conferring...

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Main Authors: Yosuke Tanigawa, Michael Wainberg, Juha Karjalainen, Tuomo Kiiskinen, Guhan Venkataraman, Susanna Lemmelä, Joni A Turunen, Robert R Graham, Aki S Havulinna, Markus Perola, Aarno Palotie, FinnGen, Mark J Daly, Manuel A Rivas
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-05-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1008682