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

Published in PLOS Genetics, 2020

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.

ANGPTL7 paper figure 1

Highlights

We identified rare protein-altering variants in ANGPTL7 that lowers intraocular pressure and provide protection against glaucoma.

ANGPTL7 paper figure S9

One of the alleles reported in the study (220C) is highly (50x +) enriched in the Finnish population, highlighting the power of the founder population with prior a bottlenecking event in genetic discovery.

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.

Our results indicate that ANGPTL7 is a safe and effective therapeutic target for glaucoma.

ANGPTL7 as a therapeutic target

Resource

The supplementary datasets are available at figshre. This includes the genome-wide association summary statistics and the gene-based burden test results.

Figshare also wrote a case study on the use of its service.

ANGPTL7 figshare case study image

Coverage

Reference: Y. Tanigawa, M. Wainberg, J. Karjalainen, T. Kiiskinen, G. Venkataraman, S. Lemmelä, J. A. Turunen, R. R. Graham, A. S. Havulinna, M. Perola, A. Palotie, FinnGen, M. J. Daly, M. A. Rivas, Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. PLOS Genetics. 16, e1008682 (2020). https://doi.org/10.1371/journal.pgen.1008682