Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0702169
Disease: Acrania
Acrania
0.300 Biomarker disease CTD_human Caffeine, selected metabolic gene variants, and risk for neural tube defects. 20641098 2010
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.030 AlteredExpression group BEFREE In this study, we examined the effect of CYP1A2 activity using a urinary caffeine metabolic ratio assay for 54 Chinese women with newly diagnosed lung cancer (including 28 adenocarcinomas) and 174 hospital controls. 11285205 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.030 Biomarker group BEFREE This study suggests that SNPs of CYP1A2 could be considered as promising biomarkers in the aetiology of lung AD in smokers. 19332078 2009
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.030 GeneticVariation group BEFREE A significant interaction between CYP1A2-T/delT or delT/delT genotypes and tobacco consumption (pack-years) adjusted for age was evident (OR (95% CI) 7.78 (1.52-42.8)) in the SCC cases who smoked relatively less (< or =33 pack-years, I quartile value), but not in adenocarcinoma and controls. 17509724 2007
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.020 Biomarker disease BEFREE When the combined NAT2/CYP1A2 status was examined, women with slow NAT2 and rapid CYP1A2 activity were at highest risk (adjusted OR 6.9, 95% CI 1.3-37.6) relative to women with rapid NAT2 and slow CYP1A2 activity, for lung adenocarcinoma. 11285205 2001
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.020 GeneticVariation disease BEFREE CYP1A2 genetic polymorphisms and adenocarcinoma lung cancer risk in the Tunisian population. 19332078 2009
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.010 Biomarker disease BEFREE To test the hypothesis that genetic variation in the metabolism of tobacco carcinogens, such as aromatic amines (AA) and heterocyclic amines (HCA), contributes to pancreatic cancer, we have examined genetic polymorphisms of three key enzymes, i.e. cytochrome P450 1A2 (CYP1A2) and N-acetyltransferase 1 and 2 (NAT1 and NAT2), in a hospital-based case-control study of 365 patients with pancreatic adenocarcinoma and 379 frequency-matched healthy controls. 15987714 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.020 GeneticVariation group BEFREE In contrast, NAT2 genotype and CYP1A2 and NAT2 hepatic activity measured by caffeine urinary metabolites were not associated with adenoma risk, although an increase in risk with rapid CYP1A2 activity could not be ruled out (OR = 1.46; 95% CI 0.76-2.81). 11875368 2002
CUI: C0001430
Disease: Adenoma
Adenoma
0.020 GeneticVariation group BEFREE One hundred and ninety-eight CRC cases, 422 adenomas (206 low-risk and 216 high-risk adenomas) and 222 controls were genotyped for the CYP1A2 164 A-->C polymorphism and questionnaires were used to assess environmental exposure. 18751408 2008
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.030 GeneticVariation disease BEFREE Significant associations were found between the CYP1A2-164A-->C polymorphism (CYP1A2*1F) and the risk of colorectal adenomas, suggesting that the studied polymorphism plays an important role in CRC risk in humans. 16157215 2005
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.030 Biomarker disease BEFREE Heterocyclic amine intake, smoking, cytochrome P450 1A2 and N-acetylation phenotypes, and risk of colorectal adenoma in a multiethnic population. 22628494 2013
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.030 GeneticVariation disease BEFREE CYP1A2 164 A-->C polymorphism, cigarette smoking, consumption of well-done red meat and risk of developing colorectal adenomas and carcinomas. 18751408 2008
CUI: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug
0.300 Biomarker group CTD_human Role of CYP1A2 in the toxicity of long-term phenacetin feeding in mice. 10445756 1999
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 GeneticVariation disease BEFREE The CYP1A2 (-163C>A) Rs762551 C/A genotype was more frequently documented in the control group compared with patients with age-related macular degeneration (46.3% vs. 30.7%, p = 0.002) and was associated with a decreased risk of having age-related macular degeneration (OR = 0.580. 28095090 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 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
0.020 Biomarker disease BEFREE Cholesterol 25-hydroxylase on chromosome 10q is a susceptibility gene for sporadic Alzheimer's disease. 16909003 2005
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.010 GeneticVariation disease BEFREE The aim of this study was to determine whether the polymorphisms of the CYP1A2 and the CYP1A1 genes in ALS patients are associated with riluzole metabolic profiles. 17852022 2007
Antley-Bixler Syndrome, Autosomal Dominant
0.010 Biomarker disease BEFREE Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. 18455494 2008
CUI: C0003467
Disease: Anxiety
Anxiety
0.010 Biomarker disease BEFREE CYP1A2 is responsible for the majority of the metabolism of caffeine, and ADORA2A has been linked to caffeine-induced anxiety. 30248915 2018
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.010 Biomarker group BEFREE CYP1A2 is responsible for the majority of the metabolism of caffeine, and ADORA2A has been linked to caffeine-induced anxiety. 30248915 2018
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency
0.010 GeneticVariation disease BEFREE CYP1A2 rs762551 was identified as a new potential predictive marker for early breast cancer events in AI-treated breast cancer patients. 27029552 2016
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.020 Biomarker disease BEFREE CYPIA2 metabolism as measured by the median ratio of (1,7-dimethylxanthine + 1,7-dimethyluric acid)/caffeine was significantly induced by smoking in both patients with atherosclerosis (ratio of 6.5 in nonsmokers and 12.4 in smokers; p < 0.05) and control subjects (ratio of 8.2 in nonsmokers and 14.8 in smokers; p < 0.05), but values in atherosclerotic and control nonsmokers and smokers were similar. 8375127 1993
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.020 Biomarker disease BEFREE Krüppel-Like Factor 4 Regulation of Cholesterol-25-Hydroxylase and Liver X Receptor Mitigates Atherosclerosis Susceptibility. 28794002 2017
CUI: C0004096
Disease: Asthma
Asthma
0.020 GeneticVariation disease BEFREE We analyzed the effect of genetic polymorphisms in the 5'-flanking region to the first intron of the CYP1A2 gene on theophylline metabolism in 75 Japanese patients with asthma and 159 healthy Japanese volunteers. 12732846 2003
CUI: C0004096
Disease: Asthma
Asthma
0.020 GeneticVariation disease BEFREE Gene mutations that are known to alter the response to asthma therapy include Arg/Arg atr position 16, mutations of LTC4S, ALOX5, and GR/NR3C1, increased expression of GR , CRHR1 variants, and mutations in CYP1A2 (-22964 [G/A]), and T 314 allele for histamine N-methyltransferase. 17672811 2007