Important Variant Information for ADH1B
Submitted by: Michelle Carrillo (PharmGKB)
Reviewed by: Under Review
Submitted date: March 1, 2008
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There are Three Important Variants for ADH1B.
- ADH1B*1
- ADH1B*2
- ADH1B*3
1. ADH1B*1Gene HGNC Name: ADH1B
Variant Summary: The ADH1B*1 allele has been shown to correlate with increased risk of colorectal cancer in one study [PMID: 17517051]. It has also been associated with increased risk of squamous cell cancer of the head and neck (SCCHN) [PMID: 17489985]. In one study, the ADH1B*1 allele correlated with the risk of cerebral infarction in Japanese men [PMID: 15534263]. This allele is more common in alcoholics and in heavy drinkers than in moderate drinkers [PMID: 15099407]. It is the most prevalent allele in Caucasians, although ADH1B*2 is also found in that population. It is rarely found in Asian populations. Key PubMed IDs: 15099407 Genomic Variant & GenBank ID: 3240A>G on NT_016354 (note: this DNA sequence encodes ADH1B*2) mRNA Variant & GenBank ID: 227A>G on NM_000668 (note: this mRNA sequence encodes ADH1B*2) Protein Variant & GenBank ID: H48R on NP_000659 (note: this protein sequence encodes ADH1B*2) dbSNP rs#: NA GoldenPath Position: NA Key Drugs/Substrates: alcohol Key Phenotypes/Diseases: Alcoholism Phenotype Data Sets: NA
| Gene HGNC Name: | ADH1B |
|---|---|
| Variant Summary: | ADH1B*2 (Arg47His in exon 3) has been shown in vitro to metabolize ethanol to acetaldehyde more quickly than the *1 allele. [PMID: 17295732]. It has a Vmax about 40 times that of the *1 allele [PMID: 16571603]. 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) [PMID: 10441588]. The ADH1B*2 allele is the predominant allele in Asian populations [PMID: 10441588]. Within Asians, the *2 allele was more common among non-alcoholics than alcoholics, with similar findings in other populations. [PMID: 15099407]. However there are indications that if those with the *2 genotype continue to drink in spite of the adverse reactions, they could be at risk for liver damage due to increased levels of acetaldehyde [PMID: 15099407]. But no conclusive evidence of liver disease and ADH genotype has been found to date [PMID: 16792560]. |
| Key PubMed IDs: | 17295732 1044158815099407 |
| Genomic Variant & GenBank ID: | NT_016354 |
| mRNA Variant & GenBank ID: | NM_000668 |
| Protein Variant & GenBank ID: | NP_000659 |
| dbSNP rs#: | rs1229984 |
| GoldenPath Position: | chr4:100458342 (hg18) |
| Key Drugs/Substrates: | alcohol |
| Key Phenotypes/Diseases: | Alcoholism |
| Phenotype Data Sets: | NA |
| Gene HGNC Name: | ADH1B |
|---|---|
| Variant Summary: | ADH1B*3 (Arg369Cys in exon 9) has been found in some African American and Native American populations to be correlated with protection against alcoholism [PMID: 17718395 17718396 16571603]. It has a Vmax about 30 times higher than the *1 allele [PMID: 16571603]. This allele is not typically found in the Asian or Caucasian populations. |
| Key PubMed IDs: | 16571603 165716031771839617718395 |
| Genomic Variant & GenBank ID: | 13542C>T on NT_016354(note: this DNA sequence encodes ADH1B*2) |
| mRNA Variant & GenBank ID: | 1192C>T on NM_000668(note: this mRNA sequence encodes ADH1B*2) |
| Protein Variant & GenBank ID: | R370C on NP_000659 (note: this protein sequence encodes ADH1B*2) |
| dbSNP rs#: | rs2066702 |
| GoldenPath Position: | chr4:100448040 (hg18) |
| Key Drugs/Substrates: | alcohol |
| Key Phenotypes/Diseases: | Alcoholism |
| Phenotype Data Sets: | NA |