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

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.

Highlights

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

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.

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.

Resource

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

• Tanigawa, Y. & Rivas, M.. Datasets described in ‘Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma’. https://doi.org/10.35092/yhjc.c.4990529.v1 (2020).

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

Coverage

• Press release from FinnGen
• Media coverage
• This paper was highlighted as Editors’ Choice in Science.”