Article
Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1.
Nature communications - 23 May 2017
Pasutto Francesca, Zenkel Matthias, Hoja Ursula, Berner Daniel, Uebe Steffen, Ferrazzi Fulvia, Schödel Johannes, Liravi Panah, Ozaki Mineo, Paoli Daniela, Frezzotti Paolo, Mizoguchi Takanori, Nakano Satoko, Kubota Toshiaki, Manabe Shinichi, Salvi Erika, Manunta Paolo, Cusi Daniele, Gieger Christian, Wichmann Heinz-Erich, Aung Tin, Khor Chiea Chuen, Kruse Friedrich E, Reis André, Schlötzer-Schrehardt Ursula
Abstract excerpt
Although lysyl oxidase-like 1 (LOXL1) is known as the principal genetic risk factor for pseudoexfoliation (PEX) syndrome, a major cause of glaucoma and cardiovascular complications, no functional variants have been identified to date. Here, we conduct a genome-wide association scan on 771 German PEX patients and 1,350 controls, followed by independent testing of associated variants in Italian and Japanese data...
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