Dataset Information

DNA Polymorphism of the LOXL1 Promoter Region in Exfoliation Syndrome in Uygur Individuals in XinJiang, China.

ABSTRACT:

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.

SUBMITTER: Ma Y

PROVIDER: S-EPMC9356802 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

DNA Polymorphism of the <i>LOXL1</i> Promoter Region in Exfoliation Syndrome in Uygur Individuals in XinJiang, China.

Ma Yinu Y Yang Mengting M Chen Xueyi X Yi Xianglong X

Journal of ophthalmology 20220730

<h4>Purpose</h4>On the basis of our previously reported work, the association of lysyl oxidase-like 1 (<i>LOXL1</i>) promoter region gene polymorphism with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) in Uygur individuals was examined.<h4>Methods</h4>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 <i>LOXL1</i> promoter (rs4886761, rs4886467, rs4558370, rs44 ...[more]

PMID: 35942063

Similar Datasets

Project description:PurposeIn Uygur populations, exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) occurred at a high frequency. In this study, we evaluate the association profiles of the lysyl oxidase-like 1 (LOXL1) gene polymorphisms with XFS in the Uygur population.MethodsSixty-four unrelated Uygur patients with XFS and 127 Uygur control subjects were included in this study. Genotypes of the three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661, rs2165241, and rs3825942) were analyzed by direct sequencing, and a case-control association study was performed.ResultsThe three SNPs were significantly associated with XFS and XFG individually. The G allele of rs1048661 (OR [95%CI]: 1.92 [1.14-3.22]), G of rs3825942 (OR [95%CI]: 4.86 [2.02-11.68]), and T of rs2165241 (OR [95%CI]: 3.98 [2.54-6.25]) were risk alleles for the disorder. The genotypes GG for rs1048661 (OR [95%CI]: 2.13 [1.14-3.97]), GG for rs3825942 (OR [95%CI]: 5.68 [2.28-14.17]), and TT for rs2165241 (OR [95%CI]: 6.13 [2.68-14.01]) were risk genotypes for the disease. The haplotypes G-G for the SNPs rs1048661and rs3825942, G-T for the SNPs rs1048661 and rs2165241, and SNPs rs3825942 and rs2165241 were found to be significantly associated with XFS/G. The haplotypes G-G-T for the three SNPs were determined to be significantly associated with XFS/G. There were significant differences of the allelic and genotypic proportion in different gender/age patients and controls for all three SNPs. T allele of rs2165241 and G of rs3825942 were risk alleles for the disorder in both the male and female groups. G allele of rs1048661 was a risk allele for the disorder in the below 65-year-old group. T of rs2165241 was a risk allele for the disorder in both age groups. G of rs3825942 was a risk allele for the disorder in the over 65-year-old group. The genotypes also showed significant differences in the below 65-year-old group of rs1048661, both groups of rs2165241, and over 65-year-old group of rs3825942.ConclusionsLOXL1 is a susceptibility gene of XFS/XFG in Uygur populations. The risk alleles of rs1048661, rs3825942 and rs2165241 in Uygur subjects were found to be similar to those of populations in Iceland and the United States and different from Han populations in China. The genotypic and allelic distributions of these SNPs are similar between XFS and XFG.