rs1051730, CHRNA3

N. diseases: 43
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.900 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
Forced expiratory volume function
CUI: C0016529
Disease: Forced expiratory volume function
0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 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
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.810 GeneticVariation GWASDB A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. 19836008 2009
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.810 GeneticVariation GWASCAT A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. 19836008 2009
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
0.700 GeneticVariation GWASDB A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. 20512145 2010
Nicotine Dependence
CUI: C0028043
Disease: Nicotine Dependence
0.790 GeneticVariation BEFREE A recent genome-wide association study demonstrated an association between a common polymorphism (rs1051730) in the nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) and both smoking quantity and nicotine dependence. 19429911 2009
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 GeneticVariation GWASDB A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. 18385738 2008
Nicotine Dependence
CUI: C0028043
Disease: Nicotine Dependence
0.790 GeneticVariation GWASDB A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. 18385739 2008
Smoking
CUI: C0037369
Disease: Smoking
0.700 GeneticVariation GWASCAT A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. 18385739 2008
Asthma
CUI: C0004096
Disease: Asthma
0.020 GeneticVariation BEFREE After adjustment for age, smoking severity and genotype previously associated with heavy smoking (CHRNA3 rs1051730 AA), significant predictors of quitting were new diagnosis of ischemic heart disease/heart failure (OR=2.33, 95 % CI: 1.61-3.42), new diagnosis of asthma (OR=1.84, 95% CI: 1.18-2.90) and low number of pack-years. 31768164 2019
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.900 GeneticVariation BEFREE Although rs1051730 and rs6495309 were shown to be independent risk factors for COPD, validation studies should be performed. 25051068 2014
melanoma
CUI: C0025202
Disease: melanoma
0.010 GeneticVariation BEFREE Among 16 SNPs, three (rs16969968 [A], rs1051730 [A] and rs2036534 [C] in the 15q25.1 region) reached significance for association with melanoma risk in men (0.01 < = P values < = 0.02; 0.85 < = Odds Ratios (ORs) <= 1.20). 27344179 2016
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 GeneticVariation BEFREE As a result, 15 SNPs on or near 12 genes and one miRNA with strong evidence of association with lung cancer risk were identified, including TERT (rs2736098), CHRNA3 (rs1051730), AGPHD1 (rs8034191), CLPTM1L (rs401681 and rs402710), BAT3 (rs3117582), TRNAA (rs4324798), ERCC2 (Lys751Gln), miR-146a2 (rs2910164), CYP1B1 (Arg48Gly), GSTM1 (null/present), SOD2 (C47T), IL-10 (-592C/A and -819C/T), and TP53 (intron 6). 29110844 2017
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 GeneticVariation BEFREE As a result, 15 SNPs on or near 12 genes and one miRNA with strong evidence of association with lung cancer risk were identified, including TERT (rs2736098), CHRNA3 (rs1051730), AGPHD1 (rs8034191), CLPTM1L (rs401681 and rs402710), BAT3 (rs3117582), TRNAA (rs4324798), ERCC2 (Lys751Gln), miR-146a2 (rs2910164), CYP1B1 (Arg48Gly), GSTM1 (null/present), SOD2 (C47T), IL-10 (-592C/A and -819C/T), and TP53 (intron 6). 29110844 2017
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE As a result, 15 SNPs on or near 12 genes and one miRNA with strong evidence of association with lung cancer risk were identified, including TERT (rs2736098), CHRNA3 (rs1051730), AGPHD1 (rs8034191), CLPTM1L (rs401681 and rs402710), BAT3 (rs3117582), TRNAA (rs4324798), ERCC2 (Lys751Gln), miR-146a2 (rs2910164), CYP1B1 (Arg48Gly), GSTM1 (null/present), SOD2 (C47T), IL-10 (-592C/A and -819C/T), and TP53 (intron 6). 29110844 2017
Anxiety Disorders
CUI: C0003469
Disease: Anxiety Disorders
0.020 GeneticVariation BEFREE As there was no association of the smoking-related rs1051730 SNP with anxiety and depression among smokers, the results suggest that smoking is not a cause of anxiety and depression. 22687325 2013
Anxiety
CUI: C0003467
Disease: Anxiety
0.020 GeneticVariation BEFREE As there was no association of the smoking-related rs1051730 SNP with anxiety and depression among smokers, the results suggest that smoking is not a cause of anxiety and depression. 22687325 2013
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
0.010 GeneticVariation BEFREE As there was no association of the smoking-related rs1051730 SNP with anxiety and depression among smokers, the results suggest that smoking is not a cause of anxiety and depression. 22687325 2013
Mental Depression
CUI: C0011570
Disease: Mental Depression
0.010 GeneticVariation BEFREE As there was no association of the smoking-related rs1051730 SNP with anxiety and depression among smokers, the results suggest that smoking is not a cause of anxiety and depression. 22687325 2013
Depressed mood
CUI: C0344315
Disease: Depressed mood
0.010 GeneticVariation BEFREE As there was no association of the smoking-related rs1051730 SNP with anxiety and depression among smokers, the results suggest that smoking is not a cause of anxiety and depression. 22687325 2013
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 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
0.800 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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 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
Metastatic non-small cell lung cancer
0.010 GeneticVariation BEFREE CHRNA3 (rs1051730) genotyping can improve customized chemotherapy based on tumor assessment of ERCC1 mRNA in stage IV NSCLC with PS 0. 19733931 2010