The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.
Berner D, Hoja U, Zenkel M, Ross JJ, Uebe S, Paoli D, Frezzotti P, Rautenbach RM, Ziskind A, Williams SE, Carmichael TR, Ramsay M, Topouzis F, Chatzikyriakidou A, Lambropoulos A, Sundaresan P, Ayub H, Akhtar F, Qamar R, Zenteno JC, Cruz-Aguilar M, Astakhov YS, Dubina M, Wiggs J, Ozaki M, Kruse FE, Aung T, Reis A, Khor CC, Pasutto F, Schlötzer-Schrehardt U.
Berner D, et al.
Hum Mol Genet. 2019 Aug 1;28(15):2531-2548. doi: 10.1093/hmg/ddz075.
Hum Mol Genet. 2019.
PMID: 30986821
Free PMC article.
Based on extensive LOXL1 deep sequencing, we report here the identification of a common non-coding sequence variant, rs7173049A>G, located downstream of LOXL1, consistently associated with a decrease in PEX risk (odds ratio, OR = 0.63; P = 6.33 10-31) in nine different …
Based on extensive LOXL1 deep sequencing, we report here the identification of a common non-coding sequence variant, rs7173049A>G, …