Promethease 0.1.82
Rs671
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs671 |
| hapmap | rs671 |
| hgdp | rs671 |
| ensembl | rs671 |
| gopubmed | rs671 |
| scholar | rs671 |
| rs671 | |
| pharmgkb | rs671 |
| hgvbaseg2p | rs671 |
| medrefsnp | rs671 |
| 23andMe | rs671 |
| SNP Nexus |
| Gene | ALDH2 |
| Chromosome | 12 |
| Orientation | plus |
| Position | 110726149 |
| Genotype | Effect |
|---|---|
| rs671(A;A) | Flusher, increased risk of esophageal cancer |
| rs671(A;G) | experiences asian flush |
| rs671(G;G) | normal |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs671(A;A) | 44 | Flusher, increased risk of esophageal cancer |
| Rs671(A;G) | 3.53.5 | experiences asian flush |
| Rs671(G;G) | 00 | normal |
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
- see omim 100650.0001
| ? | (A;A) (A;G) (G;G) |
|---|---|
|
| |
[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
