PuSH - Publication Server of Helmholtz Zentrum München: Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of <em>LOXL1</em>.

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Pasutto, F.* ; Zenkel, M.* ; Hoja, U.* ; Berner, D.* ; Uebe, S.* ; Ferrazzi, F.* ; Schödel, J.* ; Liravi, P.* ; Ozaki, M.* ; Paoli, D.* ; Frezzotti, P.* ; Mizoguchi, T.* ; Nakano, S.* ; Kubota, T.* ; Manabe, S.* ; Salvi, E.* ; Manunta, P.* ; Cusi, D.* ; Gieger, C. ; Wichmann, H.-E. ; Aung, T.* ; Khor, C.C.* ; Kruse, F.E.* ; Reis, A.* ; Schlötzer-Schrehardt, U.*

Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1.

Nat. Commun. 8:15466 (2017)

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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 introns 1 and 2 of LOXL1 with enhancer-like chromatin features. We find that the rs11638944:C>G transversion exerts a cis-acting effect on the expression levels of LOXL1, mediated by differential binding of the transcription factor RXRα (retinoid X receptor alpha) and by modulating alternative splicing of LOXL1, eventually leading to reduced levels of LOXL1 mRNA in cells and tissues of risk allele carriers. These findings uncover a functional mechanism by which common noncoding variants influence LOXL1 expression.

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