Correlation of SNPs in exon 1 of loxl‐1 gene with pseudoexfoliation syndrome in patiens from Western Greece

Abstract

Abstract Purpose Pseudoexfoliation (PEX) syndrome is a clinically important systemic disorder of the extracellular matrix characterized by pathologic accumulation of an abnormal fibrillar material in various ocular tissues. LOXL1 is a cross‐linking enzyme in extracellular matrix metabolism and is required for elastic fiber formation. Single nucleotide polymorphisms (SNPs) in exon 1 of the lysyl oxidaselike 1 (LOXL1) gene have been recently identified as strong genetic risk factors for PEX syndrome. The purpose of this project is to correlate certain Single Nucleotide Polymorphisms (SNPs) in exon 1 of the gene loxl‐1 with patients from the area of Western Greece who present PEX syndrome Methods After isolating genomic DNA from the blood of PEX syndrome and cataract patients from Western Greece, exon 1 of the loxl‐1 gene was generated by Polymerase Chain Reaction (PCR) with specific primers. The DNA samples were sent for sequencing and the haplotypes that were sequenced for the areas of the loxl‐1 exon1 SNPs were statistically processed. Results In more than 50% of the PEX syndrome patients the SNPs rs3825942 and rs1048661 that are previously associated with Exfoliation Glaucoma (XFG), were shown in our population. Moreover, a significant number of cataract patients with no PEX syndrome phenotype had the above haplotype for the loxl‐1 gene. Conclusion We have performed an analysis of LOXL1 and PEX syndrome in a Western Greece patient population and have confirmed the strong association previously reported for Icelandic and Swedish samples. Preliminary results from 50 patients show that there is strong correlation for SNPs rs3825942 and rs1048661 with patients with PEX syndrome.