Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE In this largest-ever GWAS meta-analysis for nicotine dependence and the largest-ever cross-ancestry GWAS meta-analysis for any smoking phenotype, we reconfirmed the well-known CHRNA5-CHRNA3-CHRNB4 genes and further yielded a novel association in the DNA methyltransferase gene DNMT3B. 28972577 2018
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE This study characterized the CHRNA3 rs1051730 and CHRNA5 rs16969968 polymorphisms in a Mexican population and its association with nicotine dependence, LC, and COPD. 29993116 2018
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 Biomarker disease BEFREE This study evaluated the relationship between CHRNA5, a nicotinic receptor subunit gene, and smoking in predicting IBD-related surgery as well as the relationship between CHRNA5 and nicotine dependence. 29688464 2018
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE Cholinergic Receptor Nicotinic Alpha 5 (CHRNA5) is an important susceptibility locus for nicotine addiction and lung cancer. 30543688 2018
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE To assess its impact, we regressed the lifetime FTND latent variable on well-established factors associated with nicotine dependence (quitting smoking and the nicotinic acetylcholine receptor gene [CHRNA5] variant rs16969968, separately), and we observed that the regression coefficients were unchanged between models with and without adjustment for measurement non-invariance. 29438887 2018
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE Further, we showed that these significant variants contribute to ND via two methylated sites, and we demonstrated significant interaction affecting ND among variants in CHRNA5/A3/B4, CHRNA7, and CHRNA4/B2/A5. 29666375 2018
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE In the context of personalized medicine, the aims of this study were to evaluate whether cholinergic receptor nicotinic alpha 2 (CHRNA2), cholinergic receptor nicotinic alpha 3 (CHRNA3), cholinergic receptor nicotinic alpha 5 (CHRNA5) and cholinergic receptor nicotinic beta 3 (CHRNB3) polymorphisms were associated with nicotine dependence severity, and to investigate possible pharmacogenetics markers of smoking cessation treatment. 29621993 2018
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE A single nucleotide polymorphism (SNP) in CHRNA5 (rs16969968, change from an aspartic acid [D] to asparagine [N] at position 398 of the human α5 nicotinic acetylcholine receptor subunit) has been associated with increased risk for nicotine dependence. 29573323 2018
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 Biomarker disease CTD_human The Value of Biosamples in Smoking Cessation Trials: A Review of Genetic, Metabolomic, and Epigenetic Findings. 28472521 2018
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE Searching for variants with evidence of regulatory functions, we have reported interactions between CHRNA5 and CHRNA3 enhancer variants (tagged by rs880395 and rs1948, respectively) and rs16969968, forming 3-SNP haplotypes and diplotypes that may more accurately reflect the cluster's combined effects on nicotine dependence (Barrie et al., Hum Mutat 38:112-9, 2017). 30453884 2018
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 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: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE Haplotype/diplotype analysis of rs880395 and rs1948 plus rs16969968 (a nonsynonymous CHRNA5 risk variant) in GWAS (COGEND, UW-TTURC, SAGE) yields a nicotine dependence risk profile only partially captured by rs16969968 alone. 27758088 2017
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 Biomarker disease BEFREE Besides the CHRNA4, CHRNB2 and CHRNA5/A3/B4 cluster on chromosome 15, which has been investigated intensively, recent evidence from both genome-wide association studies and candidate gene-based association studies has revealed the crucial roles of the CHRNB3-CHRNA6 gene cluster on chromosome 8 in nicotine dependence (ND). 27327258 2016
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE Consistent with this hypothesis, a number of genome-wide association studies (GWAS) and subsequent candidate gene-based associated studies investigating the genetic variants associated with nicotine dependence (ND) and smoking-related phenotypes have shed light on the CHRNA5/A3/B4 gene cluster on chromosome 15, which encodes the α5, α3, and β4 nAChR subunits, respectively. 25471942 2016
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE Our top result was rs16969968 (P = 1.7 × 10(-14)) in CHRNA5, a locus previously associated with COPD susceptibility and nicotine dependence. 26771213 2016
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE Two SNPs in NRXN1 and two in CHRNA5 were associated with cigarette consumption, while rs10865246/C (NRXN1) was associated with high nicotine addiction. 27355804 2016
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE Our results indicate that common, low frequency and rare CHRNA5 coding variants are independently associated with nicotine dependence risk. 26239294 2016
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE Polymorphisms in the CHRNA5-CHRNA3-CHRNB4 gene cluster (Chr15q25) have been robustly associated with nicotine dependence, including genome-wide studies, as well as with cognitive and neuropsychological measures. 27302872 2016
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE This uncertainty motivated us to examine the association of 3 selected SNPs (CHRNA3 rs1051730, rs6495308, and CHRNA5 rs55853898) with ND in an isolated population of Kashubians from Poland. 27127891 2016
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE Genome-wide association studies (GWASs) have identified associations between the CHRNA5-CHRNA3-CHRNB4 gene cluster and smoking heaviness and nicotine dependence. 27871728 2016
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE Our study showed a low to moderate level of ND in the Kashubians, influenced by age, sex, as well as the CHRNA5 rs16969968 variant. 25652844 2015
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 Biomarker disease BEFREE No GWS associations were observed at the chromosome 15 nicotinic receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) previously associated with nicotine dependence and smoking quantity traits. 25555482 2015
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 GeneticVariation disease BEFREE Our results provide evidence for strong selection in the nicotinic receptor gene cluster on chromosome 8, previously found to be significantly associated with both nicotine and cocaine dependence, as well as evidence selection acting on the region containing the CHRNA5 nicotinic receptor gene on chromosome 15, that is genome wide significant for risk for nicotine dependence. 26270548 2015
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 AlteredExpression disease BEFREE Our findings identify a novel regulatory SNP association with nicotine dependence and connect, for the first time, previously observed differences in CHRNA5 mRNA expression and nicotine dependence risk to underlying DNA methylation differences. 26220977 2015
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
0.400 Biomarker disease BEFREE This study provides strong evidence for the role of the CHRNA5-CHRNA3-CHRNB4 cluster in heaviness of nicotine addiction. 25632390 2015