Article
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.
PLoS genetics - 1 May 2020
Tanigawa Yosuke, Wainberg Michael, Karjalainen Juha, Kiiskinen Tuomo, Venkataraman Guhan, Lemmelä Susanna, Turunen Joni A, Graham Robert R, Havulinna Aki S, Perola Markus, Palotie Aarno, Daly Mark J, Rivas Manuel A
Abstract excerpt
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 lower intraocular pressure (IOP) and protection against glaucoma. Through rare protein-altering variant association...
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