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.

doi:10.1101/2020.02.27.968156

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bioRxiv · 10.1101/2020.02.27.968156

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

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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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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. Genome wide-association study identifies novel loci in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study. https://doi.org/10.1101/2020.02.27.968156

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