Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 Biomarker disease BEFREE CYP2A6 and CHRNA5-A3-B4 appear to be more strongly associated with smoking behaviors and lung cancer risk, respectively. 21747048 2011
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE Genetic variation in CYP2A6 may affect smoking behavior and contribute to lung cancer risk. 26662855 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE Genome-wide significant associations with cigarettes per day (CPD) and risk for lung cancer and chronic obstructive pulmonary disease (COPD) were previously reported in a region of 19q13, including CYP2A6 (nicotine metabolism enzyme) and EGLN2 (hypoxia response). 24045616 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR1 3435T>C; NAT1 1088T>A and 1095A>C; GSTA2 S112T; GSTM3 V224I and MTHFR A222V had altered risk of developing lung cancer. 17259654 2007
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE However, no study has evaluated the relationship between CYP2A6 genetic variants and the CYP2A6 activity ratio (total 3-hydroxycotinine/cotinine) and their influence on smoking intensity [total nicotine equivalents (TNE)], across five racial/ethnic groups found to have disparate rates of lung cancer. 26818358 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 Biomarker disease BEFREE In 2005, we examined functional CYP2A6 variants associated with reduced metabolism (CYP2A6*2, CYP2A6*9, CYP2A6*4), smoking history, and change in smoking in 878 adult smokers undergoing lung cancer screening in an urban setting. 23528144 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE In this Caucasian population, we found neither a relation between genetically impaired nicotine metabolism and cigarette consumption, nor any modification of lung cancer risk related to the presence of defective CYP2A6 alleles (odds ratio = 1.1, 95% confidence interval = 0.7-1.9). 11207029 2001
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 Biomarker disease CTD_human In this study, immunohistochemistry and in situ hybridization (ISH) for CYP2A6 with human lung cancer tissues (n=31) obtained by surgical resection showed significantly higher immunoreactivity in the cases with lymph node metastasis. 17549345 2007
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE It has been reported that the plasma concentration of cotinine, a major metabolite of nicotine, in carriers of wild-type alleles of CYP2A6 is considerably higher than that in carriers of null or reduced-function alleles of CYP2A6, raising the possibility that cotinine plays an important role in the development of lung cancer. 22687995 2012
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 Biomarker disease BEFREE NNK, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone); current studies are investigating the role of CYP2A6 in risk for lung cancer. 11805739 2002
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE No association was observed between CYP2A6 genotype and risk of lung cancer. 14633739 2003
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE One of these loci is the CYP2A6 deletion, previously linked to reduced susceptibility to lung cancer. 20506136 2010
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 Biomarker disease CTD_human Other mutant alleles reducing the CYP2A6 activity, besides CYP2A6*4C, also reduced the risk of lung cancer in smokers, particularly of squamous-cell carcinoma and small-cell carcinoma, both smoking-related cancers. 16176798 2005
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE Other mutant alleles reducing the CYP2A6 activity, besides CYP2A6*4C, also reduced the risk of lung cancer in smokers, particularly of squamous-cell carcinoma and small-cell carcinoma, both smoking-related cancers. 16176798 2005
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE Overall, no significant association was observed in CYP2A6*4 with the risk of lung cancer under any genetic model for all samples after correction. 23649654 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE Overall, we found that CYP2A6 *1/*1 genotype was associated with an increased risk of lung cancer relative to *4/*4 genotype (OR = 2.65, 95 % CI: 1.84-3.81, P < 0.001). 23733493 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE Previously we found that variation in CYP2A6 and CHRNA5-CHRNA3-CHRNB4 combined to increase lung cancer risk in a case-control study in European American ever-smokers (n = 860). 23591849 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE Studies in Japanese suggest that CYP2A6 poor metabolizer genotypes result in altered nicotine kinetics and may lower cigarette smoking elicited lung cancer risk, whereas similar studies in Caucasian populations have not revealed any clear associations between variant CYP2A6 genotypes and smoking behaviour or lung cancer predisposition. 11678779 2001
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 Biomarker disease BEFREE Taking these results into account, CYP2A6 is an enzyme enhancing lung cancer risk. 12214673 2002
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 Biomarker disease CTD_human Taking these results into account, CYP2A6 is an enzyme enhancing lung cancer risk. 12214673 2002
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE The frequencies of the CYP2A6 alleles vary considerably among different ethnic populations, which may partially explain the interethnic variability found in CYP2A6-related metabolic activity (e.g. nicotine metabolism), behaviors (i.e. smoking) and disease (i.e. lung cancer). 12406643 2002
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE The frequency of CYP2A6 gene whole deletion was significantly lower in the lung cancer patients than that of healthy volunteers. 10517986 1999
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 AlteredExpression disease BEFREE The present data support the hypothesis that a greater CYP2A6 activity causes smokers to smoke more extensively and be exposed to higher levels of carcinogens, resulting in an increased risk for lung cancer. 27488534 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE The purpose of the current study is to assess the contribution of the CYP2A6*2 rs1801272 and CYP2A6*9 rs28399433 gene polymorphisms and tobacco smoking in the risk of lung cancer in an Egyptian population. 29724170 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE The results of this meta-analysis suggest that the reduced-activity CYP2A6 genotype may decrease the risk of lung cancer in smokers only. 23203414 2013