|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Contrary to previous reports, we show that rs11200638 SNP has no significant impact on HTRA1 promoter activity in three different cell lines, and HTRA1 mRNA expression exhibits no significant change between control and AMD retinas.
|
17884985 |
2007 |
|
rs11200638
|
|
Age related macular degeneration
|
A |
0.900 |
GeneticVariation
|
GWASDB |
HTRA1 promoter polymorphism in wet age-related macular degeneration.
|
17053108 |
2006 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH rs800292 and HTRA1 rs11200638.
|
23260260 |
2013 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We genotyped two SNPs that are located in the LOC387715 locus (rs10490924) and HTRA1 (rs11200638) in 137 cases of exudative AMD and 187 controls.
|
20456446 |
2010 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We demonstrate that a single-nucleotide polymorphism, rs11200638, in the promoter region of HTRA1 is the most likely causal variant for AMD at 10q26 and is estimated to confer a population attributable risk of 49.3%.
|
17053109 |
2006 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The haplotypes constructed of rs3793784-rs11200638 were found to be associated with AMD development, as well.
|
31583032 |
2019 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism pathway and 2 known AMD-associated SNPs, rs800292 (from complement factor H [CFH]) and rs11200638 (from HtrA serine peptidase 1 [HTRA1]), were genotyped in all study subjects using the TaqMan genotyping technology (Applied Biosystems, Foster City, CA).
|
24393350 |
2014 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Purpose.To determine the relationship of six genetic variants (rs10490924, rs3750848, del443ins54, rs3793917, rs11200638, and rs932275) localized to the ARMS2-HTRA1 region of chromosome 10, region q26, as risk factors for age-related macular degeneration (AMD), to define the haplotype structure of these six loci, and to confirm their genetic association with the disease.Methods.
|
19933195 |
2010 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH), rs11200638 in HTRA1 and rs1413711 in VEGF) were determined.
|
24080590 |
2013 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We confirmed the association of age-related maculopathy susceptibility 2 (ARMS2) rs10490924 (P=7.38 × 10<sup>-17</sup>), HTRA1 rs11200638 (P=5.47 × 10<sup>-17</sup>) and complement factor H gene (CFH) rs800292 (P=2.53 × 10<sup>-8</sup>) with neovascular AMD, all loci passing the genome-wide significance level (P<5.22 × 10<sup>-8</sup>).
|
28703135 |
2017 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Many single-nucleotide polymorphisms (SNPs), including the previously reported variants rs10490924 (hypothetical LOC387715/ARMS2) and rs11200638 (HTRA1), defined 2 significant haplotypes associated with increased risk of neovascular AMD.
|
18164066 |
2008 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Multiple studies demonstrate a strong association between three variants at chromosome 10q26 - rs10490924, del443ins54, and rs11200638 - near the age-related maculopathy susceptibility 2 (ARMS2) and high-temperature requirement factor A1 (HTRA1) genes with susceptibility to age-related macular degeneration (AMD).
|
20664794 |
2010 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Significant associations with both exudative AMD and PCV were observed in 11 of them and HTRA1 rs11200638</span>, with different genotypic distributions between exudative AMD and PCV (P < 0.001).
|
22491416 |
2012 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Mapping the genes for age-related macular degeneration (AMD) had not been successful until recent genome-wide association studies revealed Tyr402His in CFH and rs11200638 in HTRA1 as AMD-related genetic variants.
|
18316707 |
2008 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Single nucleotide polymorphisms (SNPs) in the LOC387715 (rs10490924), HTRA1 (rs11200638), and CFH (rs1061170) genes have been implicated in age-related macular degeneration (AMD).
|
18436811 |
2008 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We investigated the frequency of Tyr402His polymorphism of the complement factor H (CFH) gene, Ser69Ala polymorphism at LOC387715, rs11200638 polymorphism of the HTRA1 gene and different apolipoprotein E (ApoE) alleles in Hungarian patients with AMD in order to determine the disease risk conferred by these factors.
|
19845562 |
2011 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We conclude that the rs11200638 variant in the HTRA1 gene is strongly associated with AMD in the Japanese population.
|
17568988 |
2007 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
To our knowledge, this is the first time the association between rs11200638 and overall age-related macular degeneration has been reported in South America.
|
28846052 |
2018 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We demonstrate that rs1120</span>0638 in the promoter region and rs2293870 in exon 1 of HTRA1, are among the most significantly associated variants for advanced forms of AMD.
|
18207215 |
2008 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Homozygotes for the T allele of rs10490924 had an odds ratio (OR) of 8.6, with a 95% confidence interval (CI) of 3.5-20.8, and homozygotes for the A allele of rs11200638 had an OR of 10.7, with a 95% CI of 3.2-35.7, for having AMD (p<0.00001).
|
19065273 |
2008 |
|
rs11200638
|
|
Age related macular degeneration
|
A |
0.900 |
GeneticVariation
|
GWASCAT |
We confirmed the association of age-related maculopathy susceptibility 2 (ARMS2) rs10490924 (P=7.38 × 10<sup>-17</sup>), HTRA1 rs11200638 (P=5.47 × 10<sup>-17</sup>) and complement factor H gene (CFH) rs800292 (P=2.53 × 10<sup>-8</sup>) with neovascular AMD, all loci passing the genome-wide significance level (P<5.22 × 10<sup>-8</sup>).
|
28703135 |
2017 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The allele/genotype frequencies of CFH rs1061170 and HTRA1 rs11200638, two well-confirmed AMD-susceptible SNPs, were close to each other in the Han Chinese and Japanese population.
|
21609242 |
2011 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Moreover, recent reports have shown that the rs11200638, a single nucleotide polymorphism (SNP) in the promoter region of the HTRA1 gene, is strongly associated with an increased prevalence of age-related macular degeneration (AMD).
|
19798546 |
2010 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
In addition, rs11200638 was significantly associated with soft confluent drusen, which are strongly immunolabeled with HTRA1 antibody in an AMD eye with GA similar to wet AMD.
|
17426452 |
2007 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The ORs of exudative AMD for individuals carrying one copy risk allele and two copy risk alleles were 2.57 (1.21 - 5.45) and 4.76 (2.15 - 10.55) respectively, with correspondent PARs of 28.3% (2.0% - 40.5%) and 38.2% (21.8% - 45.4%). rs11200638 in HTRA1 was another susceptible locus for AMD and the risk homozygotes were significantly susceptible for exudutive AMD (OR = 3.98, 1.88 - 8.43) with PAR of 38.9% (24.3% - 45.8%).
|
19187590 |
2008 |