Important Variant Information for ADH1A
Submitted by: Ryan Owen (PharmGKB)
Reviewed by: Under Review
Submitted date: Feb 21, 2008
There is One Important Variant for ADH1A.
| Gene HGNC Name: | ADH1A |
|---|---|
| Variant Summary: | ADH1A has not been as well studied as its isozymes ADH1B and ADH1C, and it is also not the primary alcohol dehydrogenase expressed in adult tissues. Very recent studies using a new statistical test called Diplotype Trend Regression (DTR) have identified potential variants of interest [16685648 17185388]. ADH1A is part of a larger gene cluster on chromosome 4 which also includes ADH7, ADH1C, ADH1B, ADH6, ADH4, and ADH3 [16685648]. DTR was applied to this gene cluster using several marker SNPs to detect associations with alcohol dependence and drug dependence [16685648 17185388]. ADH1A^SNP11 was one of three markers near ADH1A that were used in the analysis [16685648]. This SNP is located in intron 7 of ADH1A, and is likely functionally inconsequential [16685648]. Still, ADH1A^SNP11 was the only SNP examined in ADH1A that showed a tendency towards an association with alcohol dependence in the African American sample [16685648]. This may indicate that ADH1A^SNP11 is in close proximity to a risk allele that may be in linkage disequilibrium with it [16685648]. |
| Key PubMed IDs: | 16685648 17185388 |
| Genomic Variant & GenBank ID: | 24749459 G>C on NT_016354 |
| mRNA Variant & GenBank ID: | N/A |
| Protein Variant & GenBank ID: | N/A |
| dbSNP rs#: | rs975833 |
| GoldenPath Position: | chr4:100420762 (hg18) |
| Key Drugs/Substrates: | alcohol |
| Key Phenotypes/Diseases: | Alcoholism |
| Phenotype Data Sets: | N/A |
| Key Haplotypes: | ADH1A diplotypes |