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 reduces the risk of glaucoma.

Highlights

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

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

With the comprehensive health informations 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.

Taken together, our results indicate that ANGPTL7 as a safe and effective therapeutic target for glaucoma.

Resource

The supplementary datasets are available from figshre. 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 use of its service.

Coverage

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