Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Both univariate and multiple linear regression analysis indicated that only <i>CYP2D6*10</i> allele was associated with higher Cpss (<i>p</i>-value =0.029 and B =0.478, <i>p</i>-value =0.032, respectively) that might influence the clinical outcomes of donepezil. ie, TMSE (<i>p</i>-value =0.010 and B =4.527, <i>p</i>-value =0.001) and ΔTMSE (<i>p</i>-value =0.023 and B =4.107, <i>p</i>-value =0.002), especially in patients with AD. 31564952 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE CYP2D6*10 carriers responded better to ChEIs and resulted in better improvement in Alzheimer's Disease Assessment Scale-Cognitive subscale (<i>P</i> = .027) and Mini-Mental State Examination (<i>P</i> = .012). 31064198 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE The AD susceptibility gene cholesterol 25-hydroxylase (<i>CH25H</i>) is upregulated in the AD brain and is involved in the antiviral immune response. 29559905 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE This study explored the influence of apolipoprotein E3 and CYP2D6 (rs1065852) gene polymorphisms on therapeutic responses to donepezil in Han Chinese patients with Alzheimer's disease. 26768225 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE It remains controversial whether, and to what extent, individual variation in the genes responsible for drug metabolism (CYP2D6) or those associated with AD pathogenesis (APOE) modulate the response to donepezil treatment. 27282366 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE This study evaluated CYP2D6 polymorphisms to elucidate the stereoselective metabolism of donepezil and to confirm the association between the steady-state plasma concentrations of the pharmaco-effective S-donepezil and the therapeutic responses of Han Chinese patients with Alzheimer's disease. 26603528 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE With respect to CYP2D6*4 polymorphism, significantly increased risk of AD was found in allelic contrast model of A vs. G (OR=1.29, 95%CI=1.03-1.62, P=0.026), co-dominant genetic model AA vs. GG (OR=1.91, 95%CI=1.04-3.51, P=0.038); and recessive genetic model AA vs. AG+GG (OR=1.88, 95%CI=1.03-3.46, P=0.041) in the overall populations. 24909950 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE The aim of the study was to examine the genetic polymorphism in cytochrome P450 2D6 (CYP2D6) and glutathione S-transferases pi 1 (GSTP1) with respect to organochlorine pesticides (OCPs) and metals in AD. 24584466 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Impact of CYP2D6 and CYP3A4 genetic polymorphism on combined cholinesterase inhibitors and memantine treatment in mild to moderate Alzheimer's disease. 24107805 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE AD patients with mutant allele (*10) in CYP2D6 gene may respond better to donepezil than those with wild allele (*1). 22986607 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE Behavioral symptoms, sex, or genetic factors, including Beta 2-adrenergic receptor variants, apolipoprotein E, and cytochrome P450 CYP2D6, may contribute to beta-adrenergic receptor blockade modulation in AD. 23689075 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE The aim of this study was to evaluate the effect of 16 functional polymorphisms in the CYP2D6 gene on the clinical response to donepezil treatment in patients with mild-to-moderate AD. 20859244 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE BCHE and CYP2D6 genetic variation in Alzheimer's disease patients treated with cholinesterase inhibitors. 21630031 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE About 57.76% of patients with Alzheimer's disease are extensive metabolisers (EMs) for CYP2D6 enzymes, 31.06% are intermediate metabolisers (IMs), 5.28% are poor metabolisers (PMs), and 5.90% are ultrarapid metabolisers (UMs); 73.71% are CYP2C19-EMs, 25.12% IMs, and 1.16% PMs; 60.87% are CYP2C9-EMs, 34.16% IMs, and 4.97% PMs; 82.75% are CYP3A4/5-EMs, 15.88% IMs, and 1.37% UMs. 20197699 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE The analysis of CYP2D6 genotypes may be useful in identifying subgroups of patients with AD who have different clinical responses to donepezil. 19738170 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE In addition, about 10-20% of Caucasians are carriers of defective CYP2D6 polymorphic variants that alter the metabolism and effects of AD drugs and many psychotropic agents currently administered to patients with dementia. 18322383 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE There is a moderate accumulation of AD-related genetic variants of risk in CYP2D6 poor metabolizers (PMs) and ultrarapid metabolizers (UMs), who are the worst responders to conventional drugs. 18370236 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease LHGDN In AD patients treated with a multifactorial therapy, including cholinesterase inhibitors (e.g., donepezil), the best responders are the CYP2D6-related EMs and IMs, and the worst responders are PMs and UMs. 17908053 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE Pharmacogenetic aspects of therapy with cholinesterase inhibitors: the role of CYP2D6 in Alzheimer's disease pharmacogenetics. 17908053 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE There was no relationship between CYP2D6 alleles and the age of onset and advancement of dementia in AD and PD. 17530572 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE In order to elucidate whether a relationship exists between CYP2D6 polymorphism and the risk of developing Alzheimer's disease (AD), CYP2D6 allele and genotype frequencies have been evaluated in 94 patients from Southern Italy (29 men and 65 women, aged 74+/-8 years) with AD, and in 350 healthy controls (204 men, 146 women, aged 33+/-9 years) from the same geographical region. 16337409 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE Cholesterol 25-hydroxylase on chromosome 10q is a susceptibility gene for sporadic Alzheimer's disease. 16909003 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE In total, 15% of the Caucasian population with Alzheimer's disease are carriers of defective CYP2D6 polymorphic variants that are potentially responsible for therapeutic failures when receiving cholinesterase inhibitors and psychotropic drugs. 16197352 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Pharmacogenomics studies also indicate that the therapeutic response in AD is genotype-specific and that approximately 15% of the cases with efficacy and/or safety problems are associated with a defective CYP2D6 gene. 12943467 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Also, due to such a rare occurrence of the CYP2D6*4 polymorphism, we can not confirm the protective role of the polymorphism against AD in the Korean population. 11442888 2001