Nature Communications (May 2017)
Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1
- Francesca Pasutto,
- Matthias Zenkel,
- Ursula Hoja,
- Daniel Berner,
- Steffen Uebe,
- Fulvia Ferrazzi,
- Johannes Schödel,
- Panah Liravi,
- Mineo Ozaki,
- Daniela Paoli,
- Paolo Frezzotti,
- Takanori Mizoguchi,
- Satoko Nakano,
- Toshiaki Kubota,
- Shinichi Manabe,
- Erika Salvi,
- Paolo Manunta,
- Daniele Cusi,
- Christian Gieger,
- Heinz-Erich Wichmann,
- Tin Aung,
- Chiea Chuen Khor,
- Friedrich E. Kruse,
- André Reis,
- Ursula Schlötzer-Schrehardt
Affiliations
- Francesca Pasutto
- Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
- Matthias Zenkel
- Department of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
- Ursula Hoja
- Department of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
- Daniel Berner
- Department of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
- Steffen Uebe
- Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
- Fulvia Ferrazzi
- Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
- Johannes Schödel
- Department of Nephrology and Hypertension, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
- Panah Liravi
- Department of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
- Mineo Ozaki
- Ozaki Eye Hospital
- Daniela Paoli
- Ospedale Monfalcone, Centro Glaucomi, Via Galvani 1, 34074 Monfalcone, Italy
- Paolo Frezzotti
- Department of Medicine, Ophthalmology Unit, Surgery and Neuroscience, University of Siena
- Takanori Mizoguchi
- Mizoguchi Eye Clinic
- Satoko Nakano
- Department of Ophthalmology, Oita University, Faculty of Medicine
- Toshiaki Kubota
- Department of Ophthalmology, Oita University, Faculty of Medicine
- Shinichi Manabe
- Hayashi Eye Hospital
- Erika Salvi
- Department of Health Sciences, University of Milano
- Paolo Manunta
- Department of Nephrology, University Vita-Salute San Raffaele
- Daniele Cusi
- Institute of Biomedical Technologies, National Research Centre (ITB-CNR)
- Christian Gieger
- Institute of Epidemiology, Helmholtz Center Munich
- Heinz-Erich Wichmann
- Institute of Epidemiology, Helmholtz Center Munich
- Tin Aung
- Singapore Eye Research Institute, Singapore National Eye Center
- Chiea Chuen Khor
- Friedrich E. Kruse
- Department of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
- André Reis
- Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
- Ursula Schlötzer-Schrehardt
- Department of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
- DOI
- https://doi.org/10.1038/ncomms15466
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 16
Abstract
LOXL1 is a genetic risk factor for pseudoexfoliation syndrome of the eye but a causal variant has not been identified. Here, Pasutto et al., find intronic LOXL1 risk variants influence transcription factor binding and alternative splicing of LOXL1 in affected tissues reducing levels of LOXL1mRNA.
