Risk Variants for Exfoliation Syndrome Modulate Antisense Promoter Activity Within the LOXL1 Locus

The goal of this study was to identify functional variants that play a role in exfoliation syndrome (XFS) pathogenesis. We sequenced the entire LOXL1 locus in 50 South African XFS cases and 50 matched controls. The most strongly associated variants in this dataset were found in a ~7kb region spanning the LOXL1 exon 1/intron 1 boundary. DNase hypersensitivity analysis was used to demonstrate that this region, which lies upstream of the LOXL1 antisense RNA (LOXL1-AS1), contains regulatory activity. determining of chromatin structural changes in 3 cell types.