The identification of rare genetic variants that protect carriers from a specific disease can provide a launch point for studies of disease biology and therapy. In a search for genes that affect the risk of developing the common eye disease glaucoma, Tanigawa et al. examined data from more than 500,000 individuals represented in UK and Finnish biobanks. They found that missense and nonsense variants in ANGPTL7, the gene encoding angiopoietin-related protein 7, which is a member of a protein family implicated in angiogenesis, were associated with lower intraocular pressure and reduced risk of glaucoma, including a variant that reduced risk by 34%. Consistent with a role in glaucoma, ANGPTL7 is expressed in the trabecular meshwork, a tissue that drains fluid (aqueous humor) from the eye.
PLOS Genet. 16, e1008682 (2020).