HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Disease: Glycogen storage disease type II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 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
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE AMD has a strong genetic association with high-temperature requirement A 1 (HTRA1). 30273602 2018
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 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
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE In conclusion, we confirm that ARMS2, HTRA1 and CFH variants are associated with neovascular AMD in the Thai population. 28703135 2017
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 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
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 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
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-β signaling. 26310622 2015
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 Biomarker disease BEFREE Only one locus, the ARMS2/HTRA1 was a significant genetic risk factor for Korean exudative AMD, including its subtypes, PCV and typical CNV. 26171855 2015
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients. 23534868 2014
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Significantly, interactions were identified among FPR1 rs78488639, CFH rs800292, and HTRA1 rs11200638 in both exudative AMD and PCV. 25277308 2014
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH rs800292 and HTRA1 rs11200638. 23260260 2013
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE HTRA1 gene polymorphism may influence patient response to treatment with intravitreal ranibizumab for neovascular AMD. 24080590 2013
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE CFH, ARMS2 and HTRA1 genotypes may influence patient response to treatment with intravitreal bevacizumab for neovascular AMD. 22594510 2012
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE There is a strong and consistent association of the ARMS2/HTRA1 locus with both exudative AMD and PCV, suggesting the two disorders share, at least partially, similar molecular mechanisms. 22491416 2012
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE We identified a sample of patients with neovascular AMD, that in previous studies had been shown to be at elevated risk for the disease through environmental factors such as cigarette smoking and genetic variants including the complement factor H gene (CFH) on chromosome 1q25 and variants in the ARMS2/HtrA serine peptidase 1 (HTRA1) gene(s) on chromosome 10q26. 21682878 2011
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE AMD donors carrying the ARMS2 and HTRA1 risk alleles were the most likely to exhibit elevated CEP markers. 20238042 2010
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10, region q26. 19933195 2010
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 Biomarker disease BEFREE This study demonstrated the significant association of the 10q26 SNPs (HTRA1 and LOC387715) in an AMD cohort from Korea and was consistent with previous studies from other populations. 20456446 2010
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE To investigate the effect of single nucleotide polymorphisms (SNPs) and haplotypes in the genes encoding age-related maculopathy susceptibility 2 (LOC387715/ARMS2) and high-temperature requirement A-1 (HTRA1) in a case-control study in a Chinese cohort of individuals with exudative age-related macular degeneration (AMD). 19491722 2009
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE AMD donors carrying the ARMS2 and HTRA1 risk alleles were the most likely to exhibit elevated CEP markers. 19202148 2009
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE The coding HTRA1 SNP rs2293870, not part of the significant haplotypes containing rs10490924 and rs11200638, showed as strong an association with increased susceptibility to neovascular AMD. 18164066 2008
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Other than variants on 1q32-q22, only two SNPs, rs9288410 (MAP2) on 2q34-q35 and rs2014307 (PLEKHA1/HTRA1) on 10q26 were significantly associated with AMD status (P = .03 and P < 10-6 respectively). 18541031 2008
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease 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
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease 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
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 Biomarker disease BEFREE This finding is consistent with the role of HTRA1 in AMD pathogenesis and will help aid in the clinical management and prognosis of AMD patients. 18206206 2008