Rs671
| is a | snp |
| is | mentioned by |
| dbSNP | rs671 |
| nextbio | rs671 |
| hapmap | rs671 |
| 1000 genomes | rs671 |
| hgdp | rs671 |
| ensembl | rs671 |
| gopubmed | rs671 |
| scholar | rs671 |
| rs671 | |
| pharmgkb | rs671 |
| gwascentral | rs671 |
| openSNP | rs671 |
| 23andMe | rs671 |
| 23andMe all | rs671 |
| SNP Nexus | |
| SNPshot | rs671 |
| SNPdbe | rs671 |
| MSV3d | rs671 |
| Gene | ALDH2 |
| Chromosome | 12 |
| Orientation | plus |
| Position | 112241766 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 4 |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | Flusher, increased risk of esophageal cancer |
| (A;G) | 3.5 | experiences asian flush |
| (G;G) | 0 | normal |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
The rs671(A) allele of the ALDH2 gene is the culprit, in that it encodes a form of the aldehyde dehydrogenase 2 protein that is defective at metabolizing alcohol. This allele is known as the ALDH*2 form, and individuals possessing either one or two copies of it show alcohol-related sensitivity responses including facial flushing, and severe hangovers (and hence they are usually not regular drinkers). Perhaps not surprisingly they appear to suffer less from alcoholism and alcohol-related liver disease. [PMID 511165, PMID 16046871]
Tests for the alcohol flush reaction at deCODEme are based on rs671.
spittoon carriers of the A allele are prone to esophageal cancer, which is also known as upper aerodigestive tract (UAT) cancer.
[PMID 19698717] Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk
[PMID 19706845] A Novel Polymorphism rs1329149 of CYP2E1 and a Known Polymorphism rs671 of ALDH2 of Alcohol Metabolizing Enzymes Are Associated with Colorectal Cancer in a Southwestern Chinese Population
[PMID 20093384] Impact of smoking on lung cancer risk is stronger in those with the homozygous aldehyde dehydrogenase 2 (ALDH2) null allele in a Japanese population
[PMID 19641380] Candidate gene polymorphisms for diabetes mellitus, cardiovascular disease and cancer are associated with longevity in Koreans
| GWAS snp | |
|---|---|
| PMID | [PMID 20139978] |
| Trait | Hematological and biochemical traits |
| Title | Genome-wide association study of hematological and biochemical traits in a Japanese population |
| Risk Allele | A |
| P-val | 7E-10 |
| Odds Ratio | 0.26 [NR] % variance |
[PMID 20833657] Strong interaction between the effects of alcohol consumption and smoking on oesophageal squamous cell carcinoma among individuals with ADH1B and/or ALDH2 risk alleles
[PMID 21372407] Confirmation of ALDH2 as a Major Locus of Drinking Behavior and of Its Variants Regulating Multiple Metabolic Phenotypes in a Japanese Population
[PMID 21476199] Acetaldehyde dehydrogenase 2 SNP rs671 and susceptibility to essential hypertension in Mongolians: a case control study
[PMID 22102315] Strong protective effect of the aldehyde dehydrogenase gene (ALDH2) 504lys (*2) allele against alcoholism and alcohol-induced medical diseases in Asians
| GWAS snp | |
|---|---|
| PMID | [PMID 22171074] |
| Trait | |
| Title | A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population. |
| Risk Allele | |
| P-val | 0.000002 |
| Odds Ratio | None None |
| GWAS snp | |
|---|---|
| PMID | [PMID 21971053] |
| Trait | |
| Title | Genome-wide association study of coronary artery disease in the Japanese. |
| Risk Allele | A |
| P-val | 2E-34 |
| Odds Ratio | 1.4300 [1.35-1.51] |
| GWAS snp | |
|---|---|
| PMID | [PMID 22286173] |
| Trait | |
| Title | Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA. |
| Risk Allele | C |
| P-val | 0.000003 |
| Odds Ratio | 1.2400 None |
[PMID 22508505] Aldehyde-stress resulting from Aldh2 mutation promotes osteoporosis due to impaired osteoblastogenesis
[PMID 22551939] Association of a functional single-nucleotide polymorphism in the ALDH2 gene with essential hypertension depends on drinking behavior in a Chinese Han population