Source: ALL
Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation GWASDB Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls. 22899653 2013
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation BEFREE The nicotinic acetylcholine receptor polymorphism (rs1051730) on chromosome 15q25 is associated with major tobacco-related diseases in the general population with additional increased risk of COPD as well as lung cancer. 23061658 2013
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation BEFREE The CHRNA3 rs1051730 polymorphism has been associated to chronic obstructive pulmonary disease (COPD), lung cancer and nicotine dependence in case-control studies with high smoking exposure; however, its influence on lung function and COPD severity in the general population is largely unknown. 22441734 2013
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation BEFREE We also investigated the relationship between the rs1051730 SNP in an intron of the CHRNA3 gene (the polymorphism most significantly associated with lung cancer risk and smoking behavior) and TSD. 21645942 2012
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation BEFREE Our findings demonstrated that CHRNA3 gene rs1051730-A allele and AGPHD1 gene rs8034191-T allele might be risk-conferring factors for the development of lung cancer in Caucasians, but not in East-Asians. 22701590 2012
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation BEFREE Associations of SNPs in LOC123688 (rs10519203; odds ratio [OR] = 1.60, 95% confidence interval [CI] = 1.25 to 2.05, P = .00016), CHRNA5 (rs2036527; OR = 1.67, 95% CI = 1.26 to 2.21, P = .00031), and CHRNA3 (rs1051730; OR = 1.81, 95% CI = 1.26 to 2.59, P = .00137) genes with lung cancer risk reached Bonferroni-corrected levels of statistical significance (all statistical tests were two-sided). 20554942 2010
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation BEFREE Similarly, neither CHRNA3 rs8034191 nor rs1051730 were associated with lung cancer risk. 20068085 2010
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation BEFREE Smoking behavior and COPD are mediators of the association between the single nucleotide polymorphism (SNP) rs1051730 and the risk of lung cancer. 20564069 2010
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation 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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation GWASDB Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. 19654303 2009
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation GWASCAT Lung cancer susceptibility locus at 5p15.33. 18978790 2008
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation BEFREE We used urinary biomarkers to test whether two linked lung cancer risk variants in CHRNA3 (rs1051730) and CHRNA5 (rs16969968) are associated with intensity of smoking and exposure to a tobacco-specific carcinogenic nitrosamine per cigarette dose. 19010884 2008
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation GWASDB Lung cancer susceptibility locus at 5p15.33. 18978790 2008
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation GWASDB Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. 18385676 2008
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation BEFREE The risk of lung cancer was more than fivefold higher among those subjects who had both a family history of lung cancer and two copies of high-risk alleles rs8034191 (odds ratio [OR] = 7.20, 95% confidence interval [CI] = 2.21 to 23.37) or rs1051730 (OR = 5.67, CI = 2.21 to 14.60, both of which were located in the 15q24-25.1 locus, than among control subjects. 18780872 2008
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation GWASDB A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. 18385738 2008
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.900 GeneticVariation GWASDB Common 5p15.33 and 6p21.33 variants influence lung cancer risk. 18978787 2008
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.890 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2016
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.890 GeneticVariation BEFREE Cox-proportional hazards models were used to determine the correlation between rs1051730 and incidence of first COPD, tobacco-related cancer, other cancer and cardiovascular disease (CVD), and total mortality due to these causes, during approximately 14 years of follow-up. 26689306 2016
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.890 GeneticVariation BEFREE Although rs1051730 and rs6495309 were shown to be independent risk factors for COPD, validation studies should be performed. 25051068 2016
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.890 GeneticVariation BEFREE In this study, we compared genetic variants influencing the effect of smoking on COPD, that is, the effect of the well-known splicing defect polymorphism, CYP3A5*3 (rs776746), identified before genome-wide association studies, with the genome-wide association studies identified CHRNA3 (rs1051730) polymorphism on the risk of decreased lung function and COPD. 24535486 2015
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.890 GeneticVariation BEFREE In ever-smokers, the CHRNA3 rs1051730 genotype associated with reduced lung function and increased COPD severity. 22441734 2013
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.890 GeneticVariation BEFREE Our analysis revealed that effects of two linked variants (rs1051730 and rs8034191) in the AGPHD1/CHRNA3 cluster on COPD development are significantly, yet not entirely, mediated by the smoking-related phenotypes. 23299987 2013
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.890 GeneticVariation BEFREE Two SNPs (rs6495309 and rs1051730) located in nicotinic acetylcholine receptor alpha 3 (CHRNA3) gene were genotyped in 1511 patients with COPD, 1559 lung cancer cases and 1677 controls in southern and eastern Chinese populations. 23056235 2013
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.890 GeneticVariation BEFREE In the LEUVEN cohort, rs1051730 AA-carriers and rs8034191 GG-carriers had a two-fold increased risk to suffer from COPD GOLD IV (OR 2.29, 95% confidence interval [CI] = 1.11-4.75; p = 0.025 and OR = 2.42, 95% [CI] = 1.18-4.95; p = 0.016, respectively). 23349703 2013