Rs1229984
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs1229984 |
| hapmap | rs1229984 |
| hgdp | rs1229984 |
| ensembl | rs1229984 |
| gopubmed | rs1229984 |
| scholar | rs1229984 |
| rs1229984 | |
| pharmgkb | rs1229984 |
| hgvbaseg2p | rs1229984 |
| medrefsnp | rs1229984 |
| 23andMe | rs1229984 |
| SNP Nexus |
| Gene | ADH1B |
| Chromosome | 4 |
| Orientation | minus |
| Position | 100458342 |
| Genotype | Effect |
|---|---|
| rs1229984(A;A) | 0.56x decreased risk of oral/throat cancers |
| rs1229984(A;G) | 0.56x decreased risk of oral/throat cancers |
| rs1229984(G;G) | normal; more frequent alcohol consumption |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs1229984(A;A) | 0.56x decreased risk of oral/throat cancers | |
| Rs1229984(A;G) | 0.56x decreased risk of oral/throat cancers | |
| Rs1229984(G;G) | normal; more frequent alcohol consumption |
The allele, known in the literature as ADH2*2, with reduced activity is rs1229984(A). Individuals with one or especially two ADH2*2 alleles, ie genotypes rs1229984(A;G) or rs1229984(A;A) are more likely to find drinking unpleasant and have a somewhat reduced risk for alcoholism. [PMID 7635462]
A study of over 3,800 cases of "upper aerodigestive" cancers (mouth/throat, voice box, and esophageal cancers) concluded that the rs1229984(A) allele (in dbSNP orientation) has a protective effect. Carriers of this allele had a 0.56x (decreased; p=10-10) risk of having one of these cancer types.[PMID 18500343]
A review of the (at times conflicting) findings regarding ADH1B genotypes and maternal and fetal alcohol syndromes is available.[1]
A study of 4,500+ Australian twins concluded that rs1229984(G) carriers flush less after alcohol consumption, consumed alcohol on more occasions, had a higher maximum number of alcoholic drinks in a single day and had a higher overall alcohol consumption in the previous year than those with the less common (A) allele. [PMID 18996923]
The rs1229984(A;G) genotype might be associated with a decreased risk for migraine, and the rs1229984(A) allele may be related with the risk for triggering migraine attacks after alcohol consumption based on a study of 197 Spanish patients.[PMID 19486361]
Note: this is not the SNP associated with the "Asian Blush" (rs671), although there are several studies looking at individuals with varying combinations of SNPs rs671 and rs1229984.
- see omim 103720.0001
| ? | (A;A) (A;G) (G;G) |
|---|---|
|
| |
[PMID 19298322] Associations and Interactions Between SNPs in the Alcohol Metabolizing Genes and Alcoholism Phenotypes in European Americans.
According to a 23andMe discussion This is one of the SNPs which were re-analyzed April 2009. Customers with older data may wish to redownload. SNPs effected rs4420638, rs34276300, rs3091244, rs34601266, rs2033003, rs7900194, rs9332239, rs28371685, rs1229984, and rs28399504.
[PMID 19687126] A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women
[PMID 19698717] Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk
| PharmGKB | PA161845832 |
| Name | ADH1B*2, ADH1B: Arg47His |
| Annotation | This allele has been repeatedly reported to protect against alcoholism or alcohol use disorders (AUD) due to increased sensitivity to alcohol. The higher levels of accumulated acetaldehyde seem to be responsible for uncomfortable symptoms such as flushing, headaches, nausea that carriers of the *2 allele experience (especially homozygotes). |
| Gene | ADH1B |
| Featue | Exon/NonSyn |
| Evidence | Web Resource:http://www.pharmgkb.org/search/annotatedGene/adh1b/variant.jsp |
| Drugs | ethanol |
| Diseases | |
| Curation Level | In-Depth |
[PMID 19861527] Impact of multiple alcohol dehydrogenase gene polymorphisms on risk of upper aerodigestive tract cancers in a Japanese population
