Background. Our previous data suggested that three single-nucleotide polymorphisms (SNPs), rs1048661, rs3825942, and rs2165241, of the lysyl oxidase-like 1 gene (LOXL1) are significantly associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG). The following study investigated other SNPs that potentially effect XFS/XFG. Methods. A total of 216 Uygur patients diagnosed with XFS/XFG, and 297 Uygur volunteers were admitted to the First Affiliated Hospital at Xinjiang Medical University between January 2015 and October 2017. Blood samples were collected by venipuncture. Alleles and genotypes of LOXL1, TBC1D21, ATXN2, APOE, CLU, AFAP1, TXNRD2, CACNA1A, ABCA1, GAS7, and CNTNAP2 were analyzed by direct sequencing. Results. The allele G of rs41435250 of LOXL1 was a risk allele for XFS/XFG (P<0.001), whereas the allele G of rs893818 of LOXL1 was a protective allele for XFS/XFG (P<0.001). After adjusting all data for age and gender, the following results were obtained: the frequency of genotype CC for rs7137828 of ATXN2 was significantly higher in XFS/XFG patients than in controls (P=0.027), while no significance was found with reference to the frequency of genotype TT. The frequency of genotype GG for rs893818 of LOXL1 (P<0.001) and the frequency of genotype AA were both significantly higher in XFS/XFG groups compared to the control group (P<0.001). In addition, the frequency of genotype TT for rs41435250 of LOXL1 was higher in XFS/XFG patients than in controls (P=0.003), while no significant difference was found with reference to the frequency of genotype GG after adjusting for age and gender. In addition, the haplotypes G-A/T-G/G-G for rs41435250 and rs893818 were significantly associated with XFS/G. Conclusions. With reference to LOXL1, the rs41435250 resulted as a risk factor and rs893818 as a protective factor for XFS/XFG in the Uygur populations. Meanwhile, the rs16958445 of TBC1D21 and the rs7137828 of ATXN2 have also shown to be associated with pathogenesis of XFS/XFG.
Purpose. On the basis of our previously reported work, the association of lysyl oxidase-like 1 (LOXL1) promoter region gene polymorphism with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) in Uygur individuals was examined. Methods. This was a case-control association trial. A total of 242 unrelated XFS/G and 310 control cases were assessed. The genotypes of 6 single nucleotide polymorphisms (SNPs) of the LOXL1 promoter (rs4886761, rs4886467, rs4558370, rs4461027, rs16958477, and rs12914489) were examined via direct sequencing. Results. Each of the above SNPs had significant associations with XFS and XFG. The T allele of rs4886761 (OR (95% CI): 2.204 (1.711–2.838)), G of rs4886467 (OR (95% CI): 1.946 (1.513–2.503)), T of rs4461027 (OR (95% CI): 2.26 (1.773–2.881)), A of rs16958477 (OR (95% CI): 1.792 (1.399–2.297)), and G of rs12914489 (OR (95% CI): 1.103 (0.631–1.929)) independently predicted XFS/G. The genotypes TT and CC of rs4886761 (OR (95% CI): 5.655 (3.000–10.660) and 2.241 (1.473–3.408), respectively), TT and GG of rs4886467 (OR (95% CI): 4.026 (2.162–7.497) and 1.631 (1.08–2.463), respectively), CC and TT of rs4461027 (OR (95% CI): 5.245 (3.037–9.058) and 2.210 (1.37–3.564), respectively), CC and AA of rs16958477 (OR (95% CI): 3.530 (1.968–6.334) and 1.740 (1.145–2.646), respectively) also independently predicted XFS/G. The GGT and GTG haplotypes of rs12914489, rs4886467, and rs4558370 and TC and CT of rs4461027 and rs4886761 showed significant associations with XFS/G. Conclusions. These results confirmed LOXL1 as a susceptibility gene in XFS/XFG among Uygur individuals. The new SNPs of rs4886761, rs4886467, rs4461027, and rs16958477 polymorphisms are involved in the pathogenetic mechanism of XFS/G.
Purpose: This study had investigated anterior segment parameters in XFS/G patients. Methods: This was a retrospective case series. Totally 56 (112 eyes) unrelated XFS/G (XFS, 26/60 eyes; XFG, 30/44 eyes) cases and 100 (200 eyes) age-related cataract cases (control group) were assessed, who attended the ophthalmology department of the First Affiliated Hospital of Xinjiang Medical University. Clinical data, including eye axis (AL), anterior chamber depth (ACD), white to white (W-W), central corneal thickness (CCT) and corneal endothelial cell density (ECD), were collected for statistical analysis. Results: ECD significantly differed between the XFS/G and age-related cataract groups, but the remaining indexes were not statistically different. Ocular parameters in patients with XFS and XFG differed from those of age-related cataract cases, and these results were consistent. XFS and XFG patients had no statistically significant differences. Conclusions: ECD is reduced in XFS/G patients compared with age-related cataract subjects. One should still be vigilant to improve the safety of surgery in XFS/G patients and to prevent the problem before it occurs.
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