Differential Lysyl oxidase like 1 expression in pseudoexfoliation glaucoma is orchestrated via DNA methylation.

Pseudoexfoliation syndrome (PXF) is the most common cause of secondary open angle glaucoma worldwide. Single nucleotide polymorphisms (SNPs) in the gene Lysyl oxidase like 1 (LOXL1) are strongly associated with the development of pseudoexfoliation glaucoma (PXFG). However, these SNPs are also present in 50-80% of the general population, suggestive of other factors being involved in the pathogenesis of PXFG.

Prevalence of Pseudoexfoliation Glaucoma Risk-associated Variants Within Lysyl Oxidase-like 1 in an Irish Population.

Precis: High-risk alleles of risk-associated single-nucleotide polymorphisms (SNPs) within the lysyl oxidase-like 1 (LOXL1) gene are associated with pseudoexfoliation in patients recruited from an Irish population.

Purpose: SNPs within the LOXL1 gene have been identified as a major risk factor for pseudoexfoliation syndrome (PXF) and pseudoexfoliation glaucoma (PXFG), specifically SNPs within exon 1 and intron 1 regions of the gene. The common haplotype (G-G) of 2 SNPs within exon 1, rs1048661, and rs3825942, is the strongest associated risk factor for PXF in white populations, but is switched in some populations to act as protective or low risk.

Lysyl Oxidase Like 1: Biological roles and regulation.

Lysyl Oxidase Like 1 (LOXL1) is a gene that encodes for the LOXL1 enzyme. This enzyme is required for elastin biogenesis and collagen cross-linking, polymerising tropoelastin monomers into elastin polymers. Its main role is in elastin homeostasis and matrix remodelling during injury, fibrosis and cancer development.