VIP Variant in ADH1C
Note: The ADH1C 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.
ADH1C*2 is a slow acting metabolizer of ethanol. In Caucasians, this allele is probably responsible for the variation in acetaldehyde levels [Article:146936546].
Alternatively, ADH1C*1 is considered to protect against alcoholism because it is a fast acting metabolizer of ethanol, resulting in a build up of acetaldehyde. Compared to the *2 allele, this variant metabolizes ethanol 2.5 times as quickly in vitro [Article:14693654]. The accumulated acetaldehyde results in flushing and other uncomfortable side affects, and typically carriers consume less alcohol accordingly. However, some studies have indicated that ADH1C*1 has minimal affect on alcohol consumption as compared to ADH1B alleles [Article:16792560]. ADH1C*1 is very common in Asians. In Caucasians, neither the *1 or *2 alleles are the large majority, but heterozygotes are common.
| Key Publications: | |
|---|---|
| Drugs / Other Molecules |
Drug (1)
|
| Diseases | Alcoholism |
Appendix
| Genomic Variant & GenBank ID: | A13129G on NT_016354 |
|---|---|
| mRNA Variant & GenBank ID: | A1133G on NM_00666 |
| Protein Variant & GenBank ID: | I350V on NP_000660 |
| GoldenPath Position: | chr4:100479812 (hg 18) |
Publications related to rs698 at chr4:100260789: 2
| Functional assessment of human alcohol dehydrogenase family in ethanol metabolism: significance of first-pass metabolism. Alcoholism, clinical and experimental research. 2006. Lee Shou-Lun, et al. [Article:16792560@PubMed] | |
| Pooled analysis of alcohol dehydrogenase genotypes and head and neck cancer: a HuGE review. American journal of epidemiology. 2004. Brennan Paul, et al. [Article:14693654@PubMed] |
Cross-References
- UCSC Golden Path:
- chr4:100260789
- dbSNP:
- rs698
- ALFRED:
- SI000228M
- HapMap:
- rs698
- JSNP:
- IMS-JST053864
Platform Availability
- Illumina