The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome

Abstract excerpt

LOXL1 (lysyl oxidase-like 1) has been identified as the major effect locus in pseudoexfoliation (PEX) syndrome, a fibrotic disorder of the extracellular matrix and frequent cause of chronic open-angle glaucoma. However, all known PEX-associated common variants show allele effect reversal in populations of different ancestry, casting doubt on their biological significance. Based on extensive LOXL1 deep sequencing,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Glaucoma and retinal disorders
• Share to Microbial metabolism and enzyme function
• Share to Retinal Diseases and Treatments