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.
We identified rare protein-altering variants in ANGPTL7 that lowers 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 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.
The supplementary datasets are available at 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 the use of its service.
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