|
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 |
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
Homozygotes for the risk allele at rs11200638 had a 6.33-fold increased risk of PCV and a 13.77-fold increased risk of wet AMD when compared with homozygotes for the wild-type allele.
|
17692272 |
2007 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The HTRA1 promoter polymorphism, rs11200638, is a strong candidate with a functional consequence that predisposes Japanese to develop neovascular AMD.
|
17438519 |
2007 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The genotypes were compared using chi square analysis for an additive allelic model. rs11200638 was significantly associated with wet AMD (p=5.00x10(-12)).
|
17904186 |
2007 |
|
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 |
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 |
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 |
Significant associations were detected for exudative AMD with SNPs rs10490924:G>T in LOC387715 (A69S), and rs11200638:G>A in the promoter of HTRA1.
|
18682812 |
2008 |
|
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 |
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 |
There was no significant difference in the incidence of CFH Y402H (P = 0.598) and HTRA1 rs11200638 (P = 0.290) between eyes with typical exudative AMD and with PCV.
|
18939352 |
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 |
Two hundred patients affected with exudative AMD were genotyped for the polymorphisms rs11200638 of the HTRA1 gene and rs10611710 of the CFH gene.
|
18362109 |
2008 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We genotyped three SNPs, rs1061170 (exon 9, CFH), rs11200638 (HTRA1 promoter, -512 bp), and rs10490924 (6.6 kb upstream of HTRA1 in LOC387715/ARMS2) in 333 cases with advanced AMD (choroidal neovascularization [CNV] and geographic atrophy) and 171 age-matched examined controls.
|
18682806 |
2008 |
|
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 |
|
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
This study strengthens the hypothesis of association between rs11200638</span> in the promoter of HTRA1 polymorphism and AMD.
|
19026638 |
2009 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We observed that homozygous risk genotypes (TT in rs10490924 and AA in rs11200638) were more strongly associated with AMD than the heterozygous genotypes (GT in rs10490924 and geographic atrophy in rs11200638) for both SNPs.
|
19491722 |
2009 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
SNP rs10490924 on chromosome 10 in exon 1 of the ARMS2 gene showed a highly significant association with an odds ratio (OR) of 3.2 (95% CI 2.4-4.2) for the risk allele and rs11200638 located in the proximal promoter region of HTRA1 showed a higher significant association with an OR of 3.4 (95% CI 2.5-4.6) with our AMD cases.
|
19259132 |
2009 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Likewise, HtrA1-rs11200638 was less clearly associated with AMD severity, whereas C2-rs9332739 and CFB-rs641153 showed no relation.
|
19169232 |
2009 |
|
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 |
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 |
The findings indicate that the intergenic region between the tSNP rs3793917 and the SNP rs11200638 in the HTRA1 gene is the most likely site explaining the significant association with AMD.
|
20445115 |
2010 |
|
rs11200638
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A significant association was noted in CFH-rs800292, CFH-rs1410996, CFH-rs2274700, and HTRA1-rs11200638 with AMD development (P = 2.36x10(-5), 7.18x10(-5), 7.18x10(-5), 2.70x10(-7), respectively; population attributable risk = 57.3%, 57.8%, 57.8%, and 58.9%, respectively).
|
20132989 |
2010 |