Common tandem repeat variants associated with glaucoma risk in individuals of African ancestry
Pham, K.; Lee, R.; Di Rosa, I.; Salowe, R.; Jin, F.; Pham, K.; Bradford, Y.; Ying, G.-S.; Phillips-Cremins, J. E.; Setia-Verma, S.; OBrien, J. M.
Show abstract
The contribution of common tandem repeats (TR) variants to common, complex disease remains unknown, especially in populations historically underrepresented in genetic research. We identified common TR variants associated with risk of primary open-angle glaucoma (POAG) in individuals of African ancestry. The POAG-associated TR variants were predominantly found at Alu poly(A) tail elements, regions, retinal development enhancers, and harbor binding sites of a POAG-associated transcription factor, LMX1B, suggesting a convergent mechanism of how common TR variation arises and contributes to POAG pathophysiology.
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