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 reduces the risk of 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.
This paper was highlighted as Editors’ Choice in Science.
Citation: 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