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 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
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.900 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
0.900 GeneticVariation BEFREE The FPRP test results were as follows: 1) when the prior probability was 0.001 and the OR was 1.5, ADAM33 rs612709, CHRNA3/5 rs1051730, CHRNA3/5 rs8034191, CHRNA3/5 rs16969968, and TGFB1 rs1800470 were truly associated with COPD risk (FPRP < 0.2); 2) when the prior probability was 0.000001 and the OR was 1.5, all the variants except TGFB1 rs1800470 remained noteworthy; and 3) when the probability was 0.000001 and the OR was 1.2, ADAM33 rs612709 and CHRNA3/5 rs1051730 remained true positives. 27323020 2016
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.900 GeneticVariation BEFREE Our study showed the association of rs13180, rs16969968 and rs1051730 with COPD and lung function in Tatar population from Russia. 28474623 2016
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
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.900 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 2014
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
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.900 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
0.900 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
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.900 GeneticVariation BEFREE In ever-smokers, the CHRNA3 rs1051730 genotype associated with reduced lung function and increased COPD severity. 22441734 2012
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.900 GeneticVariation BEFREE Four SNPs (rs1964678, rs12593229, rs965604 and rs13180) in IREB2 were associated with forced expiratory volume in 1 s (FEV(1))% predicted and three SNPs (rs16969968, rs8034191 and rs1051730) in CHRNA3/5 were both associated with FEV(1)% predicted and FEV(1)/FVC in COPD cases (P range 0.007-0.050). 22914670 2012
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.900 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 2012
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.900 GeneticVariation GWASDB Identification of FGF7 as a novel susceptibility locus for chronic obstructive pulmonary disease. 21921092 2011
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.900 GeneticVariation BEFREE Our findings suggest that rs1051730 in CHRNA is a susceptibility variant for COPD, in terms of both airway obstruction and parenchyma destruction. 22176972 2011
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.900 GeneticVariation 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
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.810 GeneticVariation BEFREE The top two CHRNA3 SNPs associated with the risk for lung adenocarcinoma were rs1051730 and rs12914385 (p-value = 1.9×10(-10) and 1.1×10(-10), respectively). 25233467 2014
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
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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 GeneticVariation GWASCAT Identification of susceptibility pathways for the role of chromosome 15q25.1 in modifying lung cancer risk. 30104567 2018
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 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
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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 GeneticVariation BEFREE In summary, CHRNA3 rs1051730 (G > A) and AGPHD1 rs8034191 (A > G) were more susceptible to lung cancers than noncarriers. 27072204 2016
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 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