Ontology highlight
ABSTRACT:
SUBMITTER: Berner D
PROVIDER: S-EPMC6644155 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
Berner Daniel D Hoja Ursula U Zenkel Matthias M Ross James Julian JJ Uebe Steffen S Paoli Daniela D Frezzotti Paolo P Rautenbach Robyn M RM Ziskind Ari A Williams Susan E SE Carmichael Trevor R TR Ramsay Michele M Topouzis Fotis F Chatzikyriakidou Anthi A Lambropoulos Alexandros A Sundaresan Periasamy P Ayub Humaira H Akhtar Farah F Qamar Raheel R Zenteno Juan C JC Cruz-Aguilar Marisa M Astakhov Yury S YS Dubina Michael M Wiggs Janey J Ozaki Mineo M Kruse Friedrich E FE Aung Tin T Reis André A Reis André A Khor Chiea Chuen CC Pasutto Francesca F Schlötzer-Schrehardt Ursula U
Human molecular genetics 20190801 15
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, we report here the identification of a common non-coding sequence variant, rs717304 ...[more]