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rs1048661
|
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|
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.
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18385788 |
2008 |
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rs1048661
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|
|
0.100 |
GeneticVariation |
BEFREE |
SNPs of LOXL1 (rs1048661; Arg141Leu and rs3825942; Gly153Asp) are highly associated with XFS in the Japanese population.
|
18648524 |
2008 |
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rs1048661
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|
|
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).
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18636115 |
2008 |
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rs1048661
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|
|
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).
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18483563 |
2008 |
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rs1048661
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|
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 |
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rs1048661
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|
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 |
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rs1048661
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|
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 |
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rs1048661
|
|
|
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 |
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rs1048661
|
|
|
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 |
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rs1048661
|
|
|
0.100 |
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 |
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rs1048661
|
|
|
0.100 |
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 |
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rs1048661
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|
|
0.100 |
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 |