Ontology highlight
ABSTRACT:
SUBMITTER: Pasutto F
PROVIDER: S-EPMC5457519 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Pasutto Francesca F Zenkel Matthias M Hoja Ursula U Berner Daniel D Uebe Steffen S Ferrazzi Fulvia F Schödel Johannes J Liravi Panah P Ozaki Mineo M Paoli Daniela D Frezzotti Paolo P Mizoguchi Takanori T Nakano Satoko S Kubota Toshiaki T Manabe Shinichi S Salvi Erika E Manunta Paolo P Cusi Daniele D Gieger Christian C Wichmann Heinz-Erich HE Aung Tin T Khor Chiea Chuen CC Kruse Friedrich E FE Reis André A Reis André A Schlötzer-Schrehardt Ursula U
Nature communications 20170523
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 sets. We focus on a 3.5-kb four-component polymorphic locus positioned spanning intron ...[more]