|
Exfoliation Syndrome
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
GWASCAT |
The overall risk prediction accuracy for PEXS, expressed by the area under the ROC curve (AUC) value, increased by 0.218, from 0.672 for LOXL1 rs2165241 alone to 0.89 when seven additional SNPs were included in the proposed 8-SNP prediction model.
|
29278698 |
2018 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
The overall risk prediction accuracy for PEXS, expressed by the area under the ROC curve (AUC) value, increased by 0.218, from 0.672 for LOXL1 rs2165241 alone to 0.89 when seven additional SNPs were included in the proposed 8-SNP prediction model.
|
29278698 |
2018 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
This is the first study associating two SNPs of LOXL1 (rs3825942 and rs2165241) and XFS/XFG in a Spanish population, confirming findings in patients from Europe.
|
24892565 |
2016 |
|
Exfoliation Syndrome
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
BEFREE |
The haplotype frequencies of SNPs rs16958477, rs1048661, rs3825942 and rs2</span>165241 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
|
|
0.800 |
GeneticVariation
|
BEFREE |
The allelic and genotypic frequencies of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) were determined in 68 consecutive Japanese patients with CRVO [15 with exfoliation syndrome (EX+) and 53 without exfoliation syndrome (EX-)] and 90 control patients with cataract without EX (CT).
|
25130441 |
2015 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Carriers of rs3825942 AA or rs2165241 CC also had significantly less PEXS</span>/PEXG s</span>usceptibility than did the non-carriers.
|
24603551 |
2014 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our results indicate that allele T of rs41435250 is a novel risk genetic factor for XFS/XFG development in our population and points toward the possibility of a LOXL1 intragenic epistatic effect between rs41435250 and rs2165241.
|
24068861 |
2013 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
The T allele of the intronic SNP rs2165241 was more frequent in XFS/XFG patients than in controls (OR [95% CI] = 2.41 [1.59-3.64]; p = 0.00001).
|
21970694 |
2012 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
After adjusting for rs3825942, rs2165241, and other factors influencing the prevalence of XFS, only rs1048661 among three SNPs remained significant (95% confidence interval=4.11-35.78, p=6.11×10(-6)).
|
22128228 |
2011 |
|
Exfoliation Syndrome
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
BEFREE |
Genetic polymorphisms in LOXL1 (rs1048661, rs3825942, and rs2165241) have been linked to exfoliation syndrome and exfoliation glaucoma, conditions that have shown association with AD.
|
21559813 |
2011 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Allelic and genotypic frequencies of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) were determined for 78 consecutive Japanese patients with BRVO (11 patients with exfoliation syndrome [EX+], 67 patients without exfoliation syndrome [EX-]), and 158 patients with cataract without EX (CT) as controls.
|
22194657 |
2011 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Allele and genotype frequencies of SNPs rs1048661, rs2165241, and rs3825942 were extracted for analysis in Reviewer Manager: (1) comparison of the allelic distributions between XFS and XFG, (2) allelic association of LOXL1 SNPs with XFS/XFG, (3) associations in homozygote, heterozygote, and dominant and recessive models, and (4) allelic association with primary open angle glaucoma (POAG).
|
20142848 |
2010 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
After controlling for rs3825942 and rs2165241, the association between rs1048661 and XFS/XFG remained significant (p=3.6 x 10(-7)).
|
19936304 |
2009 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
In both case-control and family materials, significant association for allele G of rs1048661 (P=2.65 x 10(-5); P=0.0007), allele G of rs3825942 (P=2.24 x 10(-8); P=0.49) and allele T of rs2165241 (P=2.62 x 10(-13); P<0.0001) was found in XFS/XFG.
|
19343041 |
2009 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Strong associations were observed for all three SNPs of LOXL1 for XFS (odds ratio [OR] = 13.56, P = 3.39 x 10(-28) for allele T of rs1048661; OR = 10.71, P = 1.49 x 10(-7) for allele G of rs3825942; and OR = 4.55, P = 5.33 x 10(-4) for allele C of rs2165241) and XFG (OR = 25.21, P = 1.44 x 10(-34) for allele T of rs1048661; OR = 11.02, P = 1.40 x 10(-7) for allele G of rs3825942; and OR = 11.89, P = 4.76 x 10(-6) for allele C of rs2165241).
|
18450598 |
2008 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
We evaluated the association of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) in 142 Japanese patients with exfoliation syndrome (EX; n=59) and exfoliation glaucoma (EG; n=83) as well as in 251 control patients aged 70 years or older with primary open-angle glaucoma (PG; n=40), normal tension glaucoma (NG; n=54), and cataract (CT; n=157).
|
18958304 |
2008 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
For the LOXL1 gene, individual alleles of rs1048661 (G), rs3825942 (G), and rs2165241 (T) are highly associated with XFS and XFG in American and European populations.
|
18385788 |
2008 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
The low frequencies of the at-risk alleles at rs1048661 and rs2165241 may be one of the factors that led to the low prevalence of exfoliation syndrome in the general populations of the Chinese.
|
19098994 |
2008 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
The SNP rs2165241 was significantly associated with XFG and XFS (p = 4.13 x 10(-9)) for an additive model, OR(het) = 4.42 (2.30-8.50), OR(hom) = 34.19 (4.48-261.00); T allele: 83.1% in cases versus 52.4% in controls).
|
18287813 |
2008 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
We replicated the previously reported association of three SNPs (rs1048661, rs2165241, and rs3825942) in our independent XFG population (single SNP p-values were 0.001-0.02).
|
18334928 |
2008 |
|
Exfoliation Syndrome
|
|
0.800 |
GeneticVariation
|
BEFREE |
Strong association with the three LOXL1 common sequence variants was seen in both the PEX and PEXG patient groups independent of their geographic origin (rs2165241, combined OR = 3.42, P = 1.28 x 10(-40); rs1048661, OR = 2.43, P = 2.90 x 10(-19); and rs3825942, OR = 4.87, P = 8.22 x 10(-23)).
|
18385063 |
2008 |