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.