Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Understanding oxidative stress and HTRA1 locus in abnormal angiogenesis resulting in wet AMD pathology is an important step in developing a novel therapeutic approach.
|
31100080 |
2019 |
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A significant genotype and variant allele association was found of rs10490924 in ARMS2/HTRA1 with wet AMD, while the SNPs in CFH, CFB, and C3 were not associated with AMD in the current Pakistani cohort.
|
30895599 |
2019 |
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
BEFREE |
Variants in CFH and ARMS2/HTRA1, commonly associated with advanced AMD, were independently associated with an increase in drusen burden determined by OCT in an allele dose dependent manner, in eyes with early and intermediate AMD.
|
31658355 |
2019 |
Age related macular degeneration
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Transgenic zebrafish overexpressing human HTRA1 in rod PRCs showed morphologic changes of the RPE, including PRC death and lipofuscin accumulation, features similar to those of early AMD. htra1 expression was also increased in a retinitis pigmentosa zebrafish model compared with wild type.
|
30273602 |
2018 |
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The association of the SNP at the ARMS2/HTRA1 locus with subretinal/sub-RPE hemorrhage and poorer visual acuity and of SNPs at the CFH locus with drusen area may provide new insights in pathophysiological pathways underlying different stages of AMD.
|
29096998 |
2018 |
Age related macular degeneration
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Taken together, our findings suggest a mechanism by which increased levels of HtrA1 may contribute to AMD pathogenesis.
|
29572155 |
2018 |
Age related macular degeneration
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
A promoter variant of the gene encoding HTRA1 is part of a mutant allele that causes increased HTRA1 expression and contributed to age-related macular degeneration (AMD) in genomewide association studies.
|
29730901 |
2018 |
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Among the variants located at the 10q26 region, rs11200638, located at the HTRA1 gene promoter, has been associated with age-related macular degeneration in several populations and is considered the main polymorphism.
|
28846052 |
2018 |
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
BEFREE |
These cellular alterations correlate with the AMD phenotype and thus highlight HtrA1 as an intracellular target for therapeutic interventions towards AMD treatment.
|
29269042 |
2018 |
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide analysis of disease progression in age-related macular degeneration.
|
29346644 |
2018 |
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
BEFREE |
We identified four previously reported susceptibility loci showing genome-wide significant association with AMD progression: ARMS2-HTRA1 (P = 8.1 × 10-43), CFH (P = 3.5 × 10-37), C2-CFB-SKIV2L (P = 8.1 × 10-10) and C3 (P = 1.2 × 10-9).
|
29346644 |
2018 |
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
BEFREE |
HtrA1 is a serine protease suggested to play a role in the pathogenesis of various diseases, including age-related macular degeneration and osteoarthritis, by modulating extracellular matrix or cell surface proteins.
|
29695130 |
2018 |
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our systematic search for interaction effects yielded significantly stronger effects among younger individuals at two known AMD loci (near CFH and ARMS2/HTRA1).
|
29529059 |
2018 |
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this post hoc analysis of cross-sectional data from US participants in the Comparison of AMD Treatments Trials, genotyping was performed in 835 participants with TaqMan assays for the SNPs rs1061170 (Y402H variant in CFH), rs800292 (rs800292" genes_norm="3075">I62V variant in CFH), rs10490924 (rs10490924;s10490924" genes_norm="387715;717">A69S variant in ARMS2), rs11200638 (HTRA1), rs547154 (C2), rs2230199 (rs2230199" genes_norm="5654;718">R102G variant in C3), rs10468017 (LIPC), and rs4151667 (L9H variant in CFB).
|
29801032 |
2018 |
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we confirm that ARMS2, HTRA1 and CFH variants are associated with neovascular AMD in the Thai population.
|
28703135 |
2017 |
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association between polymorphism rs11200638 in the HTRA1 gene and the response to anti-VEGF treatment of exudative AMD: a meta-analysis.
|
28637435 |
2017 |
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, we analyzed rare recombinant haplotypes in 16,144 AMD cases and 17,832 controls from the International AMD Genomics Consortium and identified variants in ARMS2 but not HTRA1 to exclusively carry the AMD risk with P-values between 1.0 × 10<sup>-773</sup> and 6.7 × 10<sup>-5</sup> This now allows prioritization of the gene of interest for subsequent functional studies.
|
27879347 |
2017 |
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study of neovascular age-related macular degeneration in the Thai population.
|
28703135 |
2017 |
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
BEFREE |
We revealed a protective AMD-associated HTRA1 variant in Chinese populations and the biological role of HTRA1 in RPE cell degeneration, indicating its involvement in AMD pathogenesis.
|
27841854 |
2017 |
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
BEFREE |
Among these, HtrA1 is implicated in several cancers, cerebrovascular disease and age-related macular degeneration.
|
29093542 |
2017 |
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
BEFREE |
High-temperature requirement A serine peptidase 1 (HTRA1) and age-related maculopathy susceptibility 2 (ARMS2) are two genes that are strongly associated with AMD.
|
28583181 |
2017 |
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two loci in particular, including genes of the complement cascade on chromosome 1 and the ARMS2/HTRA1 genes on chromosome 10, have been shown to convey significantly increased susceptibility to developing AMD.
|
26020418 |
2016 |
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results revealed that HTRA1 rs2672598 is more significantly associated with exudative AMD than PCV in ARMS2/HTRA1 region, and it is responsible for elevated HTRA1 transcriptional activity and HTRA1 protein expression.
|
27338780 |
2016 |
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It lies next to the ARMS2/HTRA1 genes in a region of chromosome 10q26, where single nucleotide variants have been strongly associated with age-related macular degeneration (AMD), the commonest cause of blindness in Western populations.
|
27416785 |
2016 |
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Six single nucleotide polymorphisms (SNPs) in this region and two known AMD-associated SNPs in CFH (rs800292) and HTRA1 (rs11200638) were genotyped in a Han Chinese cohort composed of 490 neovascular AMD patients, 419 PCV patients and 1316 controls.
|
26861912 |
2016 |