Abstract
Primary open-angle glaucoma (POAG), the leading cause of irreversible blindness worldwide, disproportionately affects African Americans. Large-scale POAG genetic studies have focused on individuals of European and Asian ancestry, limiting our understanding of disease biology. Here we report genetic analysis of the largest-ever deeply phenotyped African American population (n=5950), identifying a novel POAG-associated SNP on chromosome 11 near the TRIM66 gene (rs112369934). POAG trait association also implicated SNPs in genes involved in trabecular meshwork homeostasis and retinal ganglion cell maintenance. These new loci deepen our understanding of the pathophysiology of POAG in African Americans.
Footnotes
Financial Support: This work was supported by the National Eye Institute, Bethesda, Maryland (grant #1RO1EY023557-01) and Vision Research Core Grant (P30 EY001583). Funds also come from the F.M. Kirby Foundation, Research to Prevent Blindness, The UPenn Hospital Board of Women Visitors, and The Paul and Evanina Bell Mackall Foundation Trust. The Ophthalmology Department at the Perelman School of Medicine and the VA Hospital in Philadelphia, PA also provided support. The sponsor or funding organization had no role in the design or conduct of this research.