Association of Lysyl Oxidase- Like 1 Gene Polymorphism in Turkish Patients With Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

Abstract

Purpose: To investigate the genetic association of lysyl oxidase-like 1 (LOXL1) gene polymorphisms in patients with pseudoexfoliation (PEX) syndrome and PEX glaucoma of Turkish descent. Methods: Three LOXL1 single nucleotide polymorphisms (SNPs) (rs1048661, rs3825942, and rs2165241) were analyzed in 109 Turkish patients (44 patients with PEX syndrome, 65 patients with PEX glaucoma) and 47 healthy subjects. Results: A allele of SNP rs3825942 was underrepresented in control group compared with the glaucoma [odds ratio (OR) = 4.5, confidence interval (CI): 95%] and syndrome (OR = 4.5, CI: 95%) groups. AA+ AG genotype of SNP rs3825942 was more frequent in the syndrome group (OR = 10, CI: 95%) rather than the control group. GT genotype of SNP rs1048661 was presented less frequently in the control group compared with the glaucoma group (OR = 4.25, CI: 95%). T allele of SNP rs1048661 was more frequent in glaucoma group (OR = 2.05, CI: 95%) compared with control group. T allele of SNP rs2165241 was more frequent in the syndrome (OR= 2.59, CI: 95%) and the glaucoma group (OR = 3.78, CI: 95%) compared with the control group. TT genotype of SNP rs2165241 was underrepresented in control group compared with the syndrome (OR = 3.85, CI: 95%) and the glaucoma (OR = 6.58, CI: 95%) group. Conclusions: Findings of this current study indicate a different LOXL1 gene expression pattern compared with a recent study that was also performed in the Turkish population. Other gene replication studies are required to accurately assess genetic factors in the pathogenesis of PEX syndrome and glaucoma.