Glaucoma
|
|
0.730 |
GeneticVariation
|
BEFREE |
"T" allele of SNP rs1048661</span> was more frequent in glaucoma group (OR=2.05, CI: 95%) compared with control group.
|
27753755 |
2017 |
Glaucoma
|
|
0.730 |
GeneticVariation
|
BEFREE |
An association between 4 LOXL1 single-nucleotide polymorphisms with PEX syndrome and glaucoma was observed (rs16958477, P = 4.77 × 10-6 [odds ratio, 0.50]; rs1048661, P = 4.28 × 10-5 [1.79]; rs3825942, P = 4.68 × 10-30 [9.19]; and rs2165241, P = 1.98 × 10-15 [2.88]).
|
24809751 |
2014 |
Glaucoma
|
|
0.730 |
GeneticVariation
|
BEFREE |
Two single nucleotide polymorphisms in the lysyl oxidase-like 1 (LOXL1) gene (rs1048661 and rs3825942) have been recently identified as strong genetic risk factors for both PEX syndrome and PEX glaucoma.
|
18974306 |
2008 |
Glaucoma
|
|
0.730 |
GeneticVariation
|
GWASDB |
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
|
17690259 |
2007 |
EXFOLIATION SYNDROME, SUSCEPTIBILITY TO
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our previous data suggested that three single-nucleotide polymorphisms (SNPs), rs1048661, rs3825942, and rs2165241, of the lysyl oxidase-like 1 gene (<i>LOXL1</i>) are significantly associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG).
|
31192002 |
2019 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
The frequency of the G allele in the exonic SNP (rs1048661</span>) appeared to be higher in XFS or XFG patients compared to control subjects (<i>P</i>= 0.0497).
|
31850260 |
2019 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
Patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma did not show any genetic association with either single-nucleotide polymorphism rs1048661 or rs3825942.
|
30189755 |
2019 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
However rs1048661 SNP did not show an association with XFS.
|
24892565 |
2016 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our meta-analysis indicates that rs1048661 ("G" alleles) had weak association with XFG/XFS; rs3825942 ("G" alleles) had strongly association with XFG/XFS; and rs2165241("T" alleles) had significant risk with XFG/XFS in some ethnicity.
|
25304275 |
2016 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
Compared with the CT group, subgroup analysis showed that the CRVO EX+ group had significant differences in the allelic and genotypic frequencies of rs1048661 (p = 0.0006447 and p = 0.0001392, respectively) and had borderline differences in the allelic and genotypic frequencies of rs3825942 (p = 0.03403 and p = 0.07341, respectively), while the CRVO EX- group did not (p = 0.1324-0.6306).
|
25130441 |
2015 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
The haplotype frequencies of SNPs rs16958477, rs1048661, rs3825942 and rs2165241 and their association with XFG indicated that the CGGT haplotype, containing all four risk alleles, and the AGGT haplotype, which carries the protective allele of rs16958477 and three risk alleles of the other three SNPs, were significantly associated with XFG (p = 4.5×10(-6), and p = 8.8×10(-6)), conferring more than 2-fold increased disease susceptibility.
|
26319397 |
2015 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
The results indicated that rs1048661 TT carriers had 92.1% and 40.4% less risk of developing PEXS/PEXG than did the controls in the Caucasian and Asian populations, respectively.
|
24603551 |
2014 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
In the Thessaloniki Eye Study, the G153D SNP of LOXL1 gene was strongly associated with both PEX and PEXG, whereas the R141L was not associated.
|
24917141 |
2014 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
The findings of the current study indicate that in a logistic regression analysis model the T allele of rs1048661 is the most important risk-modifying factor for the development of XFS and XFG.
|
23378724 |
2013 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
The association of XFS and XFG with G153D appeared to be less powerful in this population (XFS: odds ratio [OR]=2.162, p=0.039, XFG: OR=2.794, p=0.002) compared to other populations, and for R141L, the association was proven only with XFG (OR=3.592, p<0.001).
|
23687437 |
2013 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
Three SNPs of LOXL1 (rs1048661, rs3825942, and 2,165,241) are highly associated with XFS in a Korean population.
|
23441117 |
2013 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
In addition the G alleles of rs1048661 and rs3825942 confer an increased risk for PEXG with an odds ratio (OR) of 2.98 (95% CI 1.94-4.57) and OR 6.83 (95% CI 2.94-16.67), respectively.
|
22605916 |
2012 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two non-synonymous single-nucleotide polymorphisms of LOXL1, R141L (rs1048661) and G153D (rs3825942), have been reported to significantly increase susceptibility to exfoliation glaucoma (XFG).
|
22328822 |
2012 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
No significant association between XFS and the rs1048661 (R141L) SNP was observed.
|
21970694 |
2012 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
The frequency of G allele in R141L and G153D SNPs of the LOXL1 gene did not differ between XFS/XFG patients with and without CVD, but its frequency was different in XFS/XFG and ischemic stroke.
|
20436359 |
2011 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
The LOXL1 SNPs R141L and G153D are significantly associated with XFS in this black South African population.
|
21320968 |
2011 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
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.
|
21738402 |
2011 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
T allele and TT genotype of rs1048661 and C allele and CC genotype of rs2165241 were associated with XFS, showing risk alleles and genotypes opposite to those reported in Caucasians.
|
22128228 |
2011 |
Exfoliation Syndrome
|
|
0.100 |
GeneticVariation
|
BEFREE |
Subgroup analysis, compared to the CT group, showed that BRVO EX+ had significantly different allelic and genotypic frequencies of rs1048661 (p=0.00011 and p=0.000189, respectively), while BRVO EX- did not (p=0.175 and p=0.288, respectively).
|
22194657 |
2011 |