rs1051730, CHRNA3

N. diseases: 43
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.010 GeneticVariation BEFREE In the multivariate linear regression model, both rs1051730 and smoking were significant predictors for the size of sq</span>uamous carcinomas. 21645942 2011
Smoking Behaviors
CUI: C1519383
Disease: Smoking Behaviors
0.700 GeneticVariation GWASDB Meta-analysis and imputation refines the association of 15q25 with smoking quantity. 20418889 2010
Smoking Behaviors
CUI: C1519383
Disease: Smoking Behaviors
0.700 GeneticVariation GWASDB Genome-wide meta-analyses of smoking behaviors in African Americans. 22832964 2012
Smoking Behaviors
CUI: C1519383
Disease: Smoking Behaviors
0.700 GeneticVariation GWASDB Genome-wide meta-analyses identify multiple loci associated with smoking behavior. 20418890 2010
Smoking Behaviors
CUI: C1519383
Disease: Smoking Behaviors
0.700 GeneticVariation GWASDB Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. 20418888 2010
Smoking
CUI: C0037369
Disease: Smoking
0.700 GeneticVariation GWASCAT A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. 18385739 2008
Smoking
CUI: C0037369
Disease: Smoking
0.700 GeneticVariation GWASCAT Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. 20418888 2010
Smoking
CUI: C0037369
Disease: Smoking
0.700 GeneticVariation GWASCAT Genome-wide meta-analyses identify multiple loci associated with smoking behavior. 20418890 2010
Smoking
CUI: C0037369
Disease: Smoking
0.700 GeneticVariation GWASCAT Meta-analysis and imputation refines the association of 15q25 with smoking quantity. 20418889 2010
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.010 GeneticVariation BEFREE Odds ratios per rs1051730 allele for schizophrenia and antipsychotic medication use in ever-smokers in the general population were 1.22 (95% CI: 0.84-1.79) and 1.06 (1.00-1.12). 26054357 2015
response to bronchodilator
CUI: C3548479
Disease: response to bronchodilator
0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
Pulmonary Emphysema
CUI: C0034067
Disease: Pulmonary Emphysema
0.010 GeneticVariation BEFREE Consistently, the rs1051730 A-allele conferred increased risk for emphysema as assessed by CT (P = 0.0097 and P = 0.019), with a pooled OR of 1.39 (CI = 1.15-1.68; P = 0.00051). 20007924 2010
psychological distress
CUI: C0815107
Disease: psychological distress
0.010 GeneticVariation BEFREE In Mendelian randomisation analyses, there was no strong evidence that the minor allele of rs16969968/rs1051730 was associated with depression (OR=1.00, 95% CI 0.95 to 1.05), anxiety (OR=1.02, 95% CI 0.97 to 1.07) or psychological distress (OR=1.02, 95% CI 0.98 to 1.06) in current smokers. 25293386 2014
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE We further showed that these two genetic variants on 15q24-25.1 independently influence lung cancer risk (rs1051730: P = 4.42 x 10(-11); OR, 1.60; 95% CI, 1.46-1.74; rs481134: P = 7.01 x 10(-4); OR, 0.81; 95% CI, 0.72-0.92). 20395203 2010
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 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 2012
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Similarly, neither CHRNA3 rs8034191 nor rs1051730 were associated with lung cancer risk. 20068085 2010
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE We found that 2 risk single nucleotide polymorphisms reported in the lung cancer GWA studies-rs8034191: A>G and rs1051730: G>A, located in this 15q24-25.1 region-were not associated with risk of pancreatic cancer. 21697764 2011
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 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 2012
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE In addition, the A alleles in CHRNA3 rs1051730 and CHRNA5 rs16969968 were associated with the risk for LC (OR = 1.66, P = 0.07 and OR = 1.57, P = 0.1, respectively) and for COPD (OR = 2.04, P = 0.01 and OR = 1.91, P = 0.02, respectively). 29993116 2018
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE We observed a significant association between lung cancer and rs1051730 in pooled population by using allele (OR = 1.30, 95% CI = 1.27-1.34, P <  0.0001), dominant (OR = 1.41, 95% CI = 1.29-1.55, P < 0.0001), recessive (OR = 1.53, 95% CI = 1.42-1.65, P < 0.0001) and additive (OR = 1.75, 95% CI = 1.61-1.90, P < 0.0001) models. 26508385 2015
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE The potential association of three polymorphisms in the CHRNA3 (rs1051730(G > A)), CHRNA5 (rs16969968(G > A)), and AGPHD1 (rs8034191(A > G)) with the lung cancer risk has been widely investigated, but the results are inconsistent. 27072204 2016
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE The increase in cotinine levels indicated an increased risk of lung cancer with each additional copy of the rs1051730-rs16969968 risk allele (per-allele odds ratio = 1.31, 95% CI = 1.21 to 1.42). 22534784 2012