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 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 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 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: 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 Method for evaluating multiple mediators: mediating effects of smoking and COPD on the association between the CHRNA5-A3 variant and lung cancer risk. 23077662 2012
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 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 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 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 Because the associations with lung disease remain after adjustment for self-reported smoking behaviors, it has been asserted that CHRNA5-CHRNA3-CHRNB4 variants increase COPD and lung cancer susceptibility independently of their effects on smoking. 25072098 2014
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE Sliding window haplotype analysis within chromosome 15, evaluating 4722250 haplotypes and pair-wise haplotype analysis identified that CHRNA5 rs588765-rs16969968 was the most significant haplotype associated with lung cancer risk (omnibus P = 8.35×10(-15) in discovery and 7.26×10(-14) in replication), and improved the prediction of case status over that provided by the individual SNPs rs16969968 or rs588765 (likelihood ratio test P = 0.006 for rs16969968 and 3.83×10(-14) for rs588765 in discovery, 0.009 for rs16969968 and 4.62×10(-13) for rs588765 in replication, compared with rs588765-rs16969968). 26282330 2015
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE However, no studies have investigated the association between CHRNA5 rs3841324, which has been proven to have the highest association with CHRNA5 mRNA expression, and the risk of other smoking-associated cancers, except lung cancer. 25329654 2014
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE This meta-analysis tests whether the CHRNA5 variant rs16969968 predicts age of smoking cessation and age of lung cancer diagnosis. 25873736 2015
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE Surprisingly, the most convincing association (a nicotinic acetylcholine receptor <i>CHRNA5-A3-B4</i> gene cluster in nicotine dependence), with a unique attributable risk of 14%, was detected through a genome-wide association study (GWAS) on lung cancer, although lung cancer has a low heritability. 29302221 2017
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 GeneticVariation disease BEFREE Nicotinic acetylcholine receptors (nAChRs) play a key role in carcinogenesis and progression of lung cancer; and polymorphisms in CHRNA5-A3 and CHRNB3-A6, two gene clusters encoding nAChR subunits, have been associated with lung cancer risk. 27050379 2016
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 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 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 GeneticVariation disease BEFREE We found the CHRNA5 rs16969968 polymorphism to be associated with the risk of lung cancer (AA vs GG: OR=1.60, 95%CI=1.51-1.71). 26434895 2015
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 Biomarker disease BEFREE CHRNA5/CHRNA3/CHRNB4 gene cluster is located on chromosome 15q25.1 and was reported to be associated with risk of lung cancer. 29416783 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE However, these SNPs are rare in Asians, and there is currently no consensus on whether SNPs in CHRNA5-A3-B4 have a direct or indirect carcinogenic effect through smoking behaviors on lung cancer risk. 26942719 2016
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE Genetic variation in the cluster on chromosome 15, encoding the nicotinic acetylcholine receptor subunits (CHRNA5-CHRNA3-CHRNB4), has shown strong associations with tobacco consumption and an additional risk increase in smoking-related diseases such as chronic obstructive pulmonary disease (COPD), peripheral artery disease and lung cancer. 26689306 2016
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE We evaluated 23 single nucleotide polymorphisms (SNPs) in the five nicotinic receptor related genes (CHRNB3, CHRNA6, and CHRNA5/A3/B4) previously reported to be associated with lung cancer risk and smoking behavior and 14 SNPs in the four 'control' genes (TERT, CLPTM1L, CYP1A1, and TP53), which were not reported in the smoking GWA studies. 25233467 2014
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation disease BEFREE In the present hospital-based, case-control study, we determined whether polymorphism in rs503464 of CHRNA5 is associated with lung cancer risk in Chinese individuals. 23314339 2013