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LOXL1 Mutations Are Associated with Exfoliation Syndrome in Patients from the Midwestern United States

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  • Lysyl oxidase-like 1 deficiency alters ultrastructural and biomechanical properties of the peripapillary sclera in mice

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    As such, LOXL1 is expressed in many elastic tissues that constantly undergo cycles of mechanical stretch and repair, including aorta, lung, and uterus [7–10]. LOXL1 genomic variants are strongly associated with exfoliation syndrome (XFS) [11–16], a systemic disorder of elastic fibers affecting many organs including brain, heart, lung, skin, pelvic floor, and eye [17–20]. In the eye, XFS manifests as the deposition of exfoliation material composed of ECM-rich proteins, including LOXL1 [19].

  • Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology

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    Moreover, LOXL1 has not reached genome-wide significance levels in any GWAS for a systemic disorder other than XFS, possibly due to genetic heterogeneity and the complex inheritance that exists among these disorders (Nikpay et al., 2015; Network, 2015; Padmanabhan et al., 2012; Lambert et al., 2013). The association of LOXL1 coding variants (Arg141Leu and Gly153Asp) with XFG risk has been replicated in all studied populations around the world, including Australian Caucasian (Hewitt et al., 2008), U.S. Caucasian (Aragon-Martin et al., 2008; Challa et al., 2008; Fingert et al., 2007; Yang et al., 2008; Fan et al., 2008a), Central European (Mossbock et al., 2008), Chinese (Gong et al., 2008; Chen et al., 2009; Lee et al., 2009), Finnish (Lemmela et al., 2009), German (Wolf et al., 2010a; Pasutto et al., 2008), Greek (Anastasopoulos et al., 2014), Indian (Ramprasad et al., 2008), Italian (Pasutto et al., 2008), Japanese (Ozaki et al., 2008; Fuse et al., 2008; Hayashi et al., 2008; Mabuchi et al., 2008; Mori et al., 2008; Tanito et al., 2008), Korean (Sagong et al., 2011; Park do et al., 2013), Mexican (Jaimes et al., 2012), Polish (Malukiewicz et al., 2011), Saudi Arabian (Abu-Amero et al., 2010), South African (Williams et al., 2010; Rautenbach et al., 2011), Spanish (Alvarez et al., 2015; de Juan-Marcos et al., 2016), Turkish (Tuncay et al., 2016; Yilmaz et al., 2016), and the Uygur population (Mayinu and Chen, 2011; Ma et al., 2014). Meta-analyses have confirmed the global association of LOXL1 SNPs and XFS/XFG risk, with large effect sizes observed in all ethnic populations (Wang et al., 2016; Founti et al., 2015; Ji et al., 2015; Chen et al., 2010; Tang et al., 2014).

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    Strong association was found between the three SNPs common-sequence variants in both PXF and PXFG patients groups, independent of their geographic origin. A similar study was repeated in a population from Iowa (Fingert et al., 2007), where PXFG is epidemiologically less relevant than in Scandinavian populations (9% of OAG caused by PXF). 72 patients and 75 ethnically matched controls were genotyped for LOXL1 common sequence variants and a strong association was confirmed between LOXL1 and PXF/PXG.

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