BLMH, bleomycin hydrolase, 642

N. diseases: 22; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation disease BEFREE No association was observed between carrying the BLMH-G genotype and AD in ε4 negative or positive subjects. 20198498 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 AlteredExpression disease BEFREE These results suggest that diminished functional BLH activity could contribute to the pathology of AD. 20308784 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation disease LHGDN To further investigate, we have analyzed association between the apolipoprotein E (apo E) and bleomycin hydrolase (BH) polymorphisms and three groups of elderly patients: control subjects (T) (n = 68), late-onset sporadic DTA patients (DTAst) (n = 65) and other non vascular neurodegerative diseases (MNDA) (n = 52). 12604387 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation disease BEFREE Additional studies should be undertaken to increase the confidence that the BH polymorphism is associated with AD and to explore the relationship between BH and apoE. 10822352 2000
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation disease BEFREE To evaluate the genetic factors for AD among a Chinese population in Taiwan, we studied the polymorphisms of six candidate genes of Alzheimer's disease (AD), including the regulatory region of apolipoprotein E (Apo-E, G-186T), the promoter of apolipoprotein E (Apo-E, A-491T), the bleomycin hydrolase gene (BH, A1450G), a mutation of alpha(2)-macroglobulin gene (A2M G2998A), low-density lipoprotein receptor-related protein gene (LRP, C766T), and alpha(1)-antichymotrypsin gene (ACT, -15Ala/Thr) in AD patients and non-affected elder individuals among Taiwanese Chinese. 11099722 2000
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation disease BEFREE However, no direct association was observed between the -491A/T or BH-PEN polymorphism and AD. 10530514 1999
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 Biomarker disease BEFREE These findings support a key proximal role for bleomycin hydrolase, and oxidative stress in AD. 10363952 1999
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation disease BEFREE In addition, apolipoprotein E gene allele E4 and the bleomycin hydrolase locus are shown to be genetic risk factors for late-onset AD in certain sporadic cases. 10230703 1999
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 Biomarker disease BEFREE To test this hypothesis, we examined this polymorphism in 621 rigorously evaluated patients and 502 control subjects (all caucasian) but were unable to detect an association between BH and AD even after controlling for age, gender, and apolipoprotein E (ApoE) genotype. 9818937 1998