Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 Biomarker disease BEFREE The CHRNA5-A3 region on chromosome 15q24-25.1 is a risk factor both for nicotine dependence and for lung cancer. 18957677 2008
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE Thus, smokers who carry the CHRNA3 and CHRNA5 variants are expected to be at increased risk for lung cancer compared with smokers who do not carry these alleles even if they smoked the same number of cigarettes. 19010884 2008
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE Expression analysis of the six candidate genes mapping in the lung cancer risk-associated chromosome 15q25 locus revealed a 30-fold up-regulation of the gene encoding the CHRNA5 subunit and a 2-fold down-regulation of the CHRNA3 subunit in lung adenocarcinoma as compared with the normal lung. 19223495 2009
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE In the chr15q25.1 region spanning the nicotinic receptors CHRNA3 and CHRNA5, we identified multiple SNPs associated with CPD (p<10(-3)), including rs1051730, which has been associated with nicotine dependence, smoking intensity and lung cancer risk. 19247474 2009
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE We conclude that there are at least two distinct mechanisms conferring risk for nicotine dependence and lung cancer: altered receptor function caused by a D398N amino acid variant in CHRNA5 (rs16969968) and variability in CHRNA5 mRNA expression. 19443489 2009
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 Biomarker disease BEFREE Genome-wide association studies have provided evidence that common variation at 5p15.33 [telomerase reverse transcriptase (TERT)-cleft lip and palate transmembrane 1-like (CLPTM1L)], 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) influences lung cancer risk and cancer types with strong environmental risk factors. 19465454 2009
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE Although CHRNA5 polymorphism is rare from Japanese lung cancer, polymorphism status might be correlated with shorter survival. 19577767 2010
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE These findings suggest that SNPs in the CHRNA3 and CHRNA5 region contribute to lung cancer risk, and while variant alleles are less frequent in African Americans, risk in this group may be greater than in whites and less likely to reflect an indirect effect on lung cancer risk through nicotine dependence. 19641473 2009
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 Biomarker disease BEFREE Three single nucleotide polymorphisms (SNPs) of CHRNA3, CHRNA5 and LOC123688 increase lung cancer risk. 19733931 2010
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers. 19955392 2010
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 AlteredExpression disease BEFREE Our data indicate a specific role for ASCL1 in regulating the expression of the CHRNA5/A3/B4 lung cancer susceptibility locus. 20124469 2010
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE The functional A variant of rs1696698 in CHRNA5 had the strongest association with lung cancer (OR = 1.98, 95% CI = 1.25 to 3.11, P = .003). 20554942 2010
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE The authors applied a rigorous statistical approach, mediation analysis, to examine the mediating effect of smoking behavior and self-reported, physician-diagnosed emphysema (chronic obstructive pulmonary disease [COPD]) on the relation between the CHRNA5-A3 region genetic variant rs1051730 and the risk of lung cancer. 20564069 2010
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 Biomarker disease BEFREE From smoking to lung cancer: the CHRNA5/A3/B4 connection. 20581870 2010
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE A four-SNP haplotype spanning CHRNA5 (rs11637635 C, rs17408276 T, rs16969968 G) and CHRNA3 (rs578776 G) was associated with increased lung cancer risk (P = 0.002). 20587604 2010
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 Biomarker disease BEFREE The nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster: dual role in nicotine addiction and lung cancer. 20685379 2010
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 Biomarker disease BEFREE CHRNA5, encoding the nicotinic α5 subunit, is implicated in multiple disorders, including nicotine addiction and lung cancer. 20700147 2011
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE In a nested case-control study comparing 746 lung cancer cases to 1,477 controls, all of whom were non-Hispanic white smokers in the β-Carotene and Retinol Efficacy Trial, we examined whether lung cancer risk is associated with single nucleotide polymorphisms (SNPs) tagging the AGPHD1, CHRNA5, CHRNA3, and CHRNB4 genes and whether such risk is modified by diet and other characteristics. 21229299 2011
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 Biomarker disease BEFREE These results indicated a new associated risk pattern between CHRNA5 promoter activity and susceptibility to lung cancer that implies a complex role of the CHRNA5 gene in lung cancer. 21448929 2011
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE Chromosome 15q25 (CHRNA3-CHRNA5) variation impacts indirectly on lung cancer risk. 21559498 2011
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE Relationship between CYP2A6 and CHRNA5-CHRNA3-CHRNB4 variation and smoking behaviors and lung cancer risk. 21747048 2011
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE Two variants in the nicotinic acetylcholine receptor subunit genes CHRNA5 and CHRNA3 on 15q25, rs16969968 and rs578776, were associated with cotinine (P = 0.001 and 0.03, respectively) in current smokers and with lung cancer risk (P < 0.001 and P = 0.001, respectively). 21862624 2011
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE The polymorphism of CHRNA5 did not have a significant influence on the elevated risk of lung cancer and COPD. 21955800 2012
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 Biomarker disease BEFREE Genetic variants located at 15q25, including those in the cholinergic receptor nicotinic cluster (CHRNA5) have been implicated in both lung cancer risk and nicotine dependence in recent genome-wide association studies. 22028403 2011
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE Variation in the CHRNA5-A3-B4 gene cluster is a promising candidate region for smoking behavior and has been linked to multiple smoking-related phenotypes (e.g., nicotine dependence) and diseases (e.g., lung cancer). 22071378 2011