Abstract:AIM: To investigate the association between single nucleotide polymorphisms (SNPs) in the LOXL1 gene with exfoliation syndrome/glaucoma (XFS/XFG) among Jordanians. METHODS: Sixty-one patients with XFS/XFG and 59 healthy control individuals were recruited in the study. Patients were diagnosed with XFS/XFG using standard clinical examination techniques. The exonic rs1048661 SNP and the intronic rs2165241 SNP in LOXL1 gene were genotyped using sequencing technique. Allele and genotype frequencies were compared between cases and controls using Chi-square analysis. RESULTS: The G allele of the rs1048661 SNP and the T allele of the rs2165241 SNP were common in the sample with frequencies of 86.4% and 81.4%, respectively. In addition, there were no significant differences in the genotypic and allelic distributions between patients and controls for rs1048661 SNP (P=0.770, OR=1.21, 95%CI: 0.56-2.60) and for rs2165241 SNP (P=0.605, OR=1.12, 95%CI: 0.59-2.09). In addition, no significant associations were found between haplotypes of the examined SNPs and XFS/XFG in the sample (P>0.05). CONCLUSION: Variations in LOXL1 gene may not be associated with XFS/XFG in the Jordanian population. More studies are required to confirm the current findings.
