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Genome wide-association study identifies novel loci in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study

Gudiseva, H. V.; Verma, S. S.; Chavali, V. R. M.; Salowe, R.; Lucas, A.; Collins, D. W.; Rathi, S.; He, J.; Lee, R.; Merriam, S.; Bowman, A. S.; mchugh, c. p.; Zody, M. C.; Pistilli, M.; Khachatryan, N.; Ebenezer, D.; Windell, M.; Weiner, M.; Henderer, J.; Ross, A.; Cui, Q. N.; Addis, V.; Lehman, A.; Miller-Ellis, E.; Sankar, P.; Varma, R.; Williams, S. M.; Ying, G.-S.; Moore, J. H.; Ritchie, M. D.; O'Brien, J. M.

2020-02-28 genetics
10.1101/2020.02.27.968156 bioRxiv
Show 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.

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"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.