HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis
0.010 Biomarker disease BEFREE In particular, we detected an increase of plasma cell HtrA1 immunostaining from gingivitis to chronic and aggressive periodontitis, with the higher intensity in aggressive disease. 24979214 2014
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 Biomarker disease BEFREE Therefore, HtrA1 may be a potential target for overcoming CDDP resistance in LAC. 24356998 2014
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Highly myopic elderly Japanese patients with and without CNV were genotyped for three AMD-associated single nucleotide polymorphisms (SNPs), namely rs10490924 (rs10490924" genes_norm="387715">A69S) of ARMS2, rs11200638 of HTRA1, and rs1061170 (rs1061170" genes_norm="3075">Y402H) of complement factor H (CFH), with the TaqMan SNP assay. 19680273 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 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
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE Variants within CFH and LOC387715/HTRA1 may contribute to the increased risk of late AMD largely through their impact on precursors, such as drusen and/or other RPE/Bruch's membrane changes. 17327825 2007
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease GWASCAT Here we report that a single-nucleotide polymorphism in the promoter region of HTRA1, a serine protease gene on chromosome 10q26, is a major genetic risk factor for wet AMD. 17053108 2006
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE We performed an extensive literature search for studies on the association between AMD and the less studied genetic variants in PLEKHA1/ARMS2/HTRA1. 24013816 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE SNPs in chromosomal region 10q26 harboring PLEKHA1, ARMS2, and Htra1 showed the strongest association with age-related macular degeneration. 19696174 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE The LOC387715/HTRA1 variants are associated with PCV and wet AMD in the Japanese population. 17692272 2007
CUI: C0242383
Disease: Age related macular degeneration
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
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE The analysis targeted nine genes in these two key regions, including the Complement Factor H (CFH) gene, the 5 CFH-related (CFHR) genes representing a known copy number "hotspot", the F13B gene as well as the ARMS2 and HTRA1 genes in 387 cases of late AMD and 327 controls. 22558131 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE The variant of HTRA1/625G-->A could be a potentially promising genetic biomarker of AMD. 19026638 2009
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease 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
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE The promoter, splice regions, and coding exons of HTRA1 were sequenced in 163 patients with exudative AMD and 183 sex- and age-matched control subjects. 18316707 2008
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease 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
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease LHGDN CFH and LOC387715/HTRA1 haplotypes and smoking status exerted large effects on AMD susceptibility, enabling risk scores to be generated with appropriate weighting of these three factors. 18162041 2007
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease GWASCAT Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. 20385819 2010
CUI: C0242383
Disease: Age related macular degeneration
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
CUI: C0242383
Disease: Age related macular degeneration
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
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease GWASDB Here we report that a single-nucleotide polymorphism in the promoter region of HTRA1, a serine protease gene on chromosome 10q26, is a major genetic risk factor for wet AMD. 17053108 2006
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease LHGDN 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
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE AMD donors carrying the ARMS2 and HTRA1 risk alleles were the most likely to exhibit elevated CEP markers. 19202148 2009
CUI: C0242383
Disease: Age related macular degeneration
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
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE After controlling for established AMD risk factors, including polymorphisms of the genes encoding complement factor H (CFH) and age-related maculopathy susceptibility 2/HtrA serine peptidase (ARMS2/HTRA1), and smoking history, we found that ultraviolet irradiance was protective for the development of neovascular AMD (p = 0.001). 22155603 2011