rs1229984, ADH1B

N. diseases: 83
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alcoholic Intoxication, Chronic
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
0.900 GeneticVariation BEFREE In recent studies of the role of the alcohol dehydrogenase genes (ADH) in alcoholism the ADH1B Arg47His polymorphism appears to affect risk via a protective effect associated with the ADH1B*47His. 15048643 2004
Alcoholic Intoxication, Chronic
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
0.900 GeneticVariation BEFREE In this article we present summaries of previous studies and of the present study, to give an overview of the worldwide effects of ADH1B His47Arg on the risk of alcoholism. 16086315 2005
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.050 GeneticVariation BEFREE A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk of colorectal cancer in Japan. 16332725 2006
Malignant neoplasm of colon and/or rectum
0.020 GeneticVariation BEFREE A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk of colorectal cancer in Japan. 16332725 2006
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.020 GeneticVariation BEFREE Genetic polymorphisms, aldehyde dehydrogenase (ALDH2) Glu487Lys and alcohol dehydrogenase 2 (ADH2) His47Arg, which have a strong impact on alcohol metabolism, are common in Japanese population but their significance for CRC carcinogenesis remains to be clarified in detail. 16332725 2006
Premature coronary artery atherosclerosis
0.010 GeneticVariation BEFREE Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of premature coronary artery disease. 17289126 2007
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.010 GeneticVariation BEFREE The mutant genotypes of eNOS gene T-786C mutation and the fast form of ADH2 Arg47His polymorphism had an additive interaction on the risk of premature CAD in Chinese population. 17289126 2007
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.050 GeneticVariation BEFREE Gene variants rs1229984 (ADH1B) and rs1573496 (ADH7) were significantly protective against aerodigestive cancer in each individual study and overall (P = 10(-10) and 10(-9), respectively). 18500343 2008
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.050 GeneticVariation BEFREE Gene variants rs1229984 (ADH1B) and rs1573496 (ADH7) were significantly protective against aerodigestive cancer in each individual study and overall (P = 10(-10) and 10(-9), respectively). 18500343 2008
Flushing
CUI: C0016382
Disease: Flushing
0.010 GeneticVariation BEFREE These results bridge the gap between DNA sequence variation and alcohol-related behavior, confirming that the ADH1B-Arg48His polymorphism affects both alcohol-related flushing in Europeans and alcohol intake. 18996923 2009
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
0.020 GeneticVariation BEFREE The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehydrogenase (ADH) 1B His48Arg, and ADH1C Arg272Gln on PC risk was examined with multivariate analysis adjusted for potential confounders to estimate odds ratios (ORs) and 95% confidence intervals (CIs). 19068087 2009
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.020 GeneticVariation BEFREE The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehydrogenase (ADH) 1B His48Arg, and ADH1C Arg272Gln on PC risk was examined with multivariate analysis adjusted for potential confounders to estimate odds ratios (ORs) and 95% confidence intervals (CIs). 19068087 2009
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
0.840 GeneticVariation GWASCAT Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. 19698717 2009
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
0.750 GeneticVariation GWASDB Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. 19698717 2009
Squamous cell carcinoma of esophagus
0.080 GeneticVariation BEFREE We identified the significant associations of ESCC with 4q21-23 and 12q24 regions, which include nonsynonymous single nucleotide polymorphisms (SNP) in ADH1B (rs1229984, P = 6.76 x 10(-35)) and ALDH2 (rs671, P = 3.68 x 10(-68)) that were previously shown to be associated with ESCC susceptibility. 19698717 2009
Alcoholic Intoxication, Chronic
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
0.900 GeneticVariation BEFREE Humans who carry a point mutation in the gene coding for alcohol dehydrogenase-1B (ADH1B*2; Arg47His) are markedly protected against alcoholism. 19710201 2010
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
0.020 GeneticVariation BEFREE Based on the assumption that genetic variation in carcinogen metabolism further modifies the risk of exposure-related cancers, we studied the association of polymorphisms in the tobacco carcinogen-metabolizing gene CYP2A13 (Arg101Stop) and the alcohol-metabolizing genes ADH1B (Arg48His) and ADH1C (Ile350Val) with pancreatic cancer risk. 19812523 2010
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.020 GeneticVariation BEFREE Based on the assumption that genetic variation in carcinogen metabolism further modifies the risk of exposure-related cancers, we studied the association of polymorphisms in the tobacco carcinogen-metabolizing gene CYP2A13 (Arg101Stop) and the alcohol-metabolizing genes ADH1B (Arg48His) and ADH1C (Ile350Val) with pancreatic cancer risk. 19812523 2010
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.050 GeneticVariation BEFREE In Caucasians, significant associations between polymorphisms in ADH1B (rs1229984) and ADH1C (rs698 and rs1693482), and UAT cancer have been observed, despite strong linkage disequilibrium among them. 19861527 2009
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.050 GeneticVariation BEFREE In Caucasians, significant associations between polymorphisms in ADH1B (rs1229984) and ADH1C (rs698 and rs1693482), and UAT cancer have been observed, despite strong linkage disequilibrium among them. 19861527 2009
Malignant Head and Neck Neoplasm
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
0.040 GeneticVariation BEFREE Multiple regression analyses showed that individuals with the mutant genotype ADH1B Arg(48)His who consume alcohol >30 g/L/day have more than four times the risk for HNC (OR = 4.42; 95% CI, 1.21-16.11). 19887496 2010
Head and Neck Carcinoma
CUI: C3887461
Disease: Head and Neck Carcinoma
0.040 GeneticVariation BEFREE Multiple regression analyses showed that individuals with the mutant genotype ADH1B Arg(48)His who consume alcohol >30 g/L/day have more than four times the risk for HNC (OR = 4.42; 95% CI, 1.21-16.11). 19887496 2010
Alcoholic Intoxication, Chronic
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
0.900 GeneticVariation BEFREE Because alcohol dehydrogenase (ADH1B) His47Arg and mitochondrial aldehyde dehydrogenase (ALDH2) Glu487Lys single nucleotide polymorphisms (SNPs), which affect alcohol metabolism, have been reported to exert significant impacts on alcohol consumption and on the risk for alcoholism in East Asia populations, we explored associations of the two functional SNPs with suicide using a case-control study of 283 completed suicides and 319 control subjects in the Japanese population. 20180859 2010
Alcoholic Intoxication, Chronic
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
0.900 GeneticVariation BEFREE Carrying the alcohol dehydrogenase 1B 48His allele (rs1229984 or ADH1B*2) could decrease the risk of alcoholism, but with persistent drinking may confer a greater risk of CLDs. 20219057 2010
Squamous cell carcinoma of the head and neck
0.030 GeneticVariation BEFREE The authors conducted a hospital-based study of 1110 patients with squamous cell carcinoma of the head and neck (SCCHN) and a control group of 1129 patients to replicate the associations reported by a recent, large European study between 2 potentially functional single nucleotide polymorphisms (SNPs) of the alcohol dehydrogenase (ADH) genes, a substitution in ADH1B at amino acid 48 from arginine to histidine (R48H) (reference SNP number [rs]1229984; guanine to adenine [G-->A]) and a substitution in ADH7 at amino acid 92 from alanine to glycine (A92G) (rs1573496; cytosine to guanine [C-->G]), and the risk of squamous cell carcinoma of the head and neck (SCCHN). 20336794 2010