Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Exfoliation Syndrome
CUI: C0206368
Disease: Exfoliation Syndrome
0.100 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
CUI: C0206368
Disease: Exfoliation Syndrome
0.100 GeneticVariation BEFREE Single nucleotide polymorphisms (SNPs) within the lysyl oxidase like-1 gene (LOXL1; rs1048661 and rs3825942) were found to confer risk to pseudoexfoliation glaucoma (XFG) through the pseudoexfoliation syndrome (XFS) in Nordic, Caucasian, and two Asiatic populations (Indian and Japanese). 19503743 2009
Exfoliation Syndrome
CUI: C0206368
Disease: Exfoliation Syndrome
0.100 GeneticVariation BEFREE SNPs of LOXL1 (rs1048661; Arg141Leu and rs3825942; Gly153Asp) are highly associated with XFS in the Japanese population. 18648524 2008
Exfoliation Syndrome
CUI: C0206368
Disease: Exfoliation Syndrome
0.100 GeneticVariation BEFREE However rs1048661 SNP did not show an association with XFS. 24892565 2016
Exfoliation Syndrome
CUI: C0206368
Disease: 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
CUI: C0206368
Disease: 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
CUI: C0206368
Disease: 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
CUI: C0206368
Disease: 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
CUI: C0206368
Disease: Exfoliation Syndrome
0.100 GeneticVariation BEFREE Frequencies of the T allele of rs1048661 and the G allele of rs3825942 were significantly higher in XFS patients than in control subjects (rs1048661: 99.4% versus 55.0%; rs3825942: 99.4% versus 85.3%; p<0.0001). 18636115 2008
Exfoliation Syndrome
CUI: C0206368
Disease: Exfoliation Syndrome
0.100 GeneticVariation BEFREE Similar to almost all non-African populations tested thus far, the "G" allele of both rs1048661 and rs3825942 SNPs were associated with the risk of PEG in the Saudi Arab population. 21197115 2010
Exfoliation Syndrome
CUI: C0206368
Disease: Exfoliation Syndrome
0.100 GeneticVariation BEFREE Recently, two non-synonymous polymorphisms (rs1048661 G>T and rs3825942 G>A) of lysyl oxidase-like protein 1 (LOXL1), a monoamine oxidase that catalyzes the polymerization of tropoelastin to elastin, were found to be associated with increased risk for XFS and exfoliation glaucoma (XFG). 18483563 2008
Exfoliation Syndrome
CUI: C0206368
Disease: Exfoliation Syndrome
0.100 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
CUI: C0206368
Disease: 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
CUI: C0206368
Disease: Exfoliation Syndrome
0.100 GeneticVariation BEFREE The SNPs rs1048661 and rs3825942 of the LOXL1 gene seem to be highly associated with XFS in the Japanese population, but a different polymorphism of LOXL1 may cause the development of XFS in the Japanese population. 18201684 2008
Exfoliation Syndrome
CUI: C0206368
Disease: 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
CUI: C0206368
Disease: Exfoliation Syndrome
0.100 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
CUI: C0206368
Disease: 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
CUI: C0206368
Disease: Exfoliation Syndrome
0.100 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
Exfoliation Syndrome
CUI: C0206368
Disease: 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
CUI: C0206368
Disease: 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
CUI: C0206368
Disease: 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
CUI: C0206368
Disease: Exfoliation Syndrome
0.100 GeneticVariation BEFREE In the Icelandic and Swedish populations, pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG) has been significantly associated with LOXL1 exon 1 polymorphisms - allele G of rs1048661 (R141L) and allele G of rs3825942 (G135D). 18334947 2008
Exfoliation Syndrome
CUI: C0206368
Disease: Exfoliation Syndrome
0.100 GeneticVariation BEFREE Although the functional effects of the LOXL1 SNP appear to be qualitative rather than quantitative, the amino acid substitution (R141L) caused by SNP rs1048661 is not a simple decisive factor for XFG due to the inverted allele frequency between Japanese XFG and Caucasian XFG patients. 18552979 2008
Exfoliation Syndrome
CUI: C0206368
Disease: 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
CUI: C0206368
Disease: 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