VIP Variant in ADH1B
Note: The ADH1B gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand, therefore the alleles within our variant annotations will differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.
ADH1B*3 (Arg369Cys in exon 9) has been found in some African American and Native American populations to be correlated with protection against alcoholism [Articles:17718395, 17718396, 16571603]. It has a Vmax about 30 times higher than the *1 allele [Article:16571603]. This allele is not typically found in the Asian or Caucasian populations.
| Key Publications: | |
|---|---|
| Drugs / Other Molecules |
Drug (1)
|
| Diseases | Alcoholism |
Appendix
| 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) |
| GoldenPath Position: | chr4:100448040&c=chr4&l=100447789&r=100448290&db=hg18&pix=620] (hg18) |
Publications related to rs2066702 at chr4:100229017: 3
| Health-related effects of genetic variations of alcohol-metabolizing enzymes in African Americans. Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism. 2007. Scott Denise M, et al. [Article:17718396@PubMed] | |
| Variations in ADH and ALDH in Southwest California Indians. Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism. 2007. Ehlers Cindy L. [Article:17718395@PubMed] | |
| Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis. Human molecular genetics. 2006. Edenberg Howard J, et al. [Article:16571603@PubMed] |
Cross-References
- UCSC Golden Path:
- chr4:100229017
- dbSNP:
- rs2066702
- ALFRED:
- SI000230F
- HapMap:
- rs2066702
- LS-SNP:
- rs2066702
Platform Availability
- Affymetrix