STH, saitohin, 246744

N. diseases: 27; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497327
Disease: Dementia
Dementia 		0.030 GeneticVariation disease BEFREE A polymorphism (Q7R) in saitohin gene inside the microtubule-associated protein tau gene has also been related to dementia. 20852909 2010
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.030 AlteredExpression disease BEFREE We used real-time PCR to investigate the level of expression of tau mRNA isoforms and STH mRNA in the frontal cortex and globus pallidus of PSP patients' brains. mRNA levels were compared with those in the brains of two controls groups: healthy controls and Alzheimer's disease patients (AD). 17320831 2007
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.030 AlteredExpression disease LHGDN By this assay and subsequent co-immunoprecipitation and glutathione S-transferase pull-down assays, we discovered and confirmed that Saitohin interacts with peroxiredoxin 6, a unique member of that family that is bifunctional and the levels of which increase in Pick disease. 16186110 2005
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.030 AlteredExpression disease BEFREE By this assay and subsequent co-immunoprecipitation and glutathione S-transferase pull-down assays, we discovered and confirmed that Saitohin interacts with peroxiredoxin 6, a unique member of that family that is bifunctional and the levels of which increase in Pick disease. 16186110 2005
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.030 GeneticVariation disease BEFREE The QQ genotype of the STH polymorphism was over-represented in participants with PSP (91.5%) compared with control subjects (47%) (p< or =0.00001). 14707330 2004
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.030 GeneticVariation disease BEFREE Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy. 12913211 2003
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.030 Biomarker disease BEFREE Mutation screening of the MAPT and STH genes in Polish patients with clinically diagnosed frontotemporal dementia. 12826737 2003
CUI: C0497327
Disease: Dementia
Dementia 		0.030 GeneticVariation disease BEFREE We also observed a trend in non-Hispanic white PDD cases with the STH 'QQ' (Tau H1/H1) genotype increased (76%) compared to PD cases without dementia (61.7%) and controls (56.6%); however, this difference was not statistically significant (PDD vs. controls OR 2.1; 95% CI: 0.8-5.8, P=0.2). 12865131 2003
CUI: C0497327
Disease: Dementia
Dementia 		0.030 GeneticVariation disease LHGDN Is the saitohin gene involved in neurodegenerative diseases? 12447938 2002
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.060 GeneticVariation disease BEFREE Saitohin Q7R polymorphism is associated with late-onset Alzheimer's disease susceptibility among caucasian populations: a meta-analysis. 28211174 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.060 Biomarker group BEFREE Saitohin gene found within the tau gene is thought to play a role in the pathogenesis of neurodegenerative diseases. 25168738 2015
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.060 GeneticVariation disease BEFREE Recent reports were inconclusive in showing that the Q7R polymorphism in the STH gene is associated with late-onset Alzheimer's disease (LOAD). 18850062 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.060 Biomarker group BEFREE Saitohin (STH) is thought to be involved in the pathogenesis of many neurodegenerative diseases. 18850062 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.060 GeneticVariation group BEFREE Some neurodegenerative disorders were found to be associated with the presence of certain STH allele. 18300012 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.060 GeneticVariation group BEFREE The Saitohin Q allele confers susceptibility to several neurodegenerative diseases. 16186110 2005
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.060 GeneticVariation disease BEFREE A single nucleotide polymorphism that results in an amino acid change (Q7R) has been identified in the Saitohin (STH) gene and was initially found to be over-represented in the homozygous state in subjects with late-onset Alzheimer's disease (AD). 15030402 2004
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.060 GeneticVariation disease BEFREE The Q7R polymorphism of STH appears to be related to late onset Alzheimer's disease. 14707330 2004
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.060 GeneticVariation disease BEFREE In a multi-ethnic cohort we analyzed the Saitohin (STH) gene 'Q7R' polymorphism in 200 late-onset Alzheimer's disease cases (LOAD), 60 Parkinson's disease cases with dementia (PDD), 84 Parkinson's disease cases without dementia and 458 controls. 12865131 2003
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.060 GeneticVariation disease BEFREE Given that AD is a tauopathy but no mutations or polymorphisms in Tau have been consistently associated with AD, and that Saitohin is nested in intron 9 of Tau and shares a similar expression pattern, we tested this association in 690 multiplex AD families and in a case-control sample (903 patients and 320 controls). 12875906 2003
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.060 AlteredExpression group BEFREE The tissue expression of STH is similar to tau, a gene that is implicated in many neurodegenerative disorders. 12032355 2002
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.060 Biomarker group BEFREE Is the saitohin gene involved in neurodegenerative diseases? 12447938 2002
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease BEFREE Therefore, we performed this meta-analysis to explore the association between STH Q7R polymorphism and AD risk. 28211174 2017
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.100 GeneticVariation disease GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease BEFREE Saitohin and APOE polymorphisms influence cognition and function in persons with advanced Alzheimer Disease. 21934306 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE Serotonin transporter and saitohin genes in risk of Alzheimer's disease and frontotemporal lobar dementia: preliminary findings. 20852909 2010