LOXL1, lysyl oxidase like 1, 4016

N. diseases: 93; N. variants: 27
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 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
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 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
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 GeneticVariation BEFREE The TT genotype in the single nucleotide polymorphism (SNP) rs1048661 and the GG genotype in the SNP rs3825942 in exon 1 of LOXL1 were significantly associated with an increased risk of XFG under recessive models (chi(2) test, p=5.34 x 10(-34) and p=2.1 x 10(-8), respectively). 18552979 2008
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 GeneticVariation BEFREE Significant association has recently been reported between pseudoexfoliation glaucoma (XFG) and two single-nucleotide polymorphisms (SNPs), rs3825942, and rs1048661, in the lysyl oxidase-like 1 gene (LOXL1). 18421074 2008
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 GeneticVariation BEFREE We aimed to investigate the relationship between <i>LOXL1</i> SNPs (rs1048661, rs3825942) and XFS and/or XFG in a cohort of Iranian subjects. 31850260 2019
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 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
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 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
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 GeneticVariation BEFREE Out of the two non-synonymous SNPs in exon 1 of the LOXL1 gene, rs3825942 has a significant association with XFS cases in the patients of the southern Indian population. 18334947 2008
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 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
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 GeneticVariation BEFREE SNPs of LOXL1 (rs1048661; Arg141Leu and rs3825942; Gly153Asp) are highly associated with XFS in the Japanese population. 18648524 2008
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 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
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 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
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 GeneticVariation BEFREE A significant association was found for the G allele of rs1048661 and rs3825942 in PEXG patients of Pakistani origin. 22605916 2012
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 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
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 GeneticVariation BEFREE These results indicate that the G153D LOXL1 variant is significantly associated with an increased risk of pseudoexfoliation and pseudoexfoliation glaucoma in an ethnically diverse patient population from the Northeastern United States. 18254956 2008
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 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
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 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
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 GeneticVariation BEFREE The G allele of rs3825942 has been shown to be associated with XFS/XFG in all populations studied to date. 19503743 2009
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 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
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 GeneticVariation BEFREE After a standard eye examination protocol we genotyped SNPs rs2165241and rs3825942 in 62 XFG or exfoliation syndrome (XFS) patients and 170 normal controls. 18287813 2008
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 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
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 GeneticVariation BEFREE Results show that, controlling for all other variables, mean TAS value (p<0.0001) and the mutation G/G in rs3825942 (p=0.041) are significant risk factors for PEG. 22065931 2011
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 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
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 GeneticVariation BEFREE The AA genotype of G153D confers XFS risk in this population, as opposed to the GG genotype described in all other populations, suggesting that unidentified genetic or environmental factors independent of these LOXL1 SNPs may influence phenotypic expression of the syndrome. 21320968 2011
dbSNP: rs3825942
rs3825942
Entrez Id: 4016;100287616
Gene Symbol: LOXL1;LOXL1-AS1
LOXL1;LOXL1-AS1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.900 GeneticVariation BEFREE The G allele of rs3825942 was found in a higher frequency in XFS/XFG than in controls (100% vs 95% respectively, p = 0.0019). 21970694 2012