Türkiye'de Eksfoliasyon Sendromu Glokomu ve Primer Açık Açılı Glokomda Loxl1 Geni Tek Nükleotid Polimorfizmlerinin Analizi
Özet
The purpose of this study was to evaluate the association between lysyl oxidase like 1 (LOXL1) single nucleotide polymorphisms (SNPs) in exfoliation syndrome (XFS), exfoliation glaucoma (XFG) and primary open angle glaucoma (POAG) in Turkish population. One hundred XFS, 100 XFG, 100 POAG patients and 100 control subjects evaluated at Hacettepe University School of Medicine Ophthalmology Department were included in the study. LOXL1 gene SNPs rs1048661 (R141L) and rs3825942 (G153D), were genotyped and their frequencies were compared between groups. The G allele of both SNPs were more frequently observed in XFS/XFG when compared with control subjects indicating that the T allele for rs1048661 (p=2.54x10-5, OR=0.334, %95 CI: 0.198-0.564 for XFS and p=8.56x10-5, OR=0.366, %95 CI: 0.219-0.611 for XFG) and the A allele for rs3825942 (p=3.69x10-9, OR=0.025, %95 CI: 0.003-0.188) were found to be protective alleles for XFS/XFG. The TT and GT genotypes of rs1048661 were underrepresented in both patients with XFS (p=2.64x10-4) and XFG group (p=3.20x10-4) compared to control subjects. GG genotype of rs3825942 was detected in all subjects of both XFS and XFG groups (p=3.69x10-4). By using logistic regression analysis, the effect of rs1048661 remained significant (p=8.45x10-8) after controlling for the effect of rs3825942. Female gender was found to be protective against the disease (p=0.001). There were no statistically significant differences between subjects with XFS and XFG for both SNP frequencies. No statistically significant differences in allele and genotype frequencies of rs1048661 and rs3825942 were found between patients with POAG and control subjects. In conclusion, LOXL1 polymorphisms were found to be associated in XFS and XFG but not POAG in Turkish population.
