rs2066702
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common |
| (C;T) | None | |
| (T;T) | None |
| Reference | GRCh38 38.1/142 |
| Chromosome | 4 |
| Position | 99307860 |
| Gene | ADH1B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2066702 |
| dbSNP (classic) | rs2066702 |
| ClinGen | rs2066702 |
| ebi | rs2066702 |
| HLI | rs2066702 |
| Exac | rs2066702 |
| Gnomad | rs2066702 |
| Varsome | rs2066702 |
| LitVar | rs2066702 |
| Map | rs2066702 |
| PheGenI | rs2066702 |
| Biobank | rs2066702 |
| 1000 genomes | rs2066702 |
| hgdp | rs2066702 |
| ensembl | rs2066702 |
| geneview | rs2066702 |
| scholar | rs2066702 |
| rs2066702 | |
| pharmgkb | rs2066702 |
| gwascentral | rs2066702 |
| openSNP | rs2066702 |
| 23andMe | rs2066702 |
| SNPshot | rs2066702 |
| SNPdbe | rs2066702 |
| MSV3d | rs2066702 |
| GWAS Ctlg | rs2066702 |
| GMAF | 0.04959 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
This paper found significant association with rs2066702, the SNP that defines ADH1B*3, in African American families. Association was strongest with the ICD-10 definitions of alcoholism, with P=0.046 for PDTsum and 0.029 for PDTaverage; it was also significant for DSM-IV for PDTaverage (P=0.039). The high-risk allele was the C that encodes ADH1B*1, and the low-risk allele encodes ADH1B*3.
A review of the (at times conflicting) findings regarding ADH1B genotypes and maternal and fetal alcohol syndromes is available.[1]
In some African American and Native American populations, the ADH1B*3 allele (Arg369Cys in exon 9) is correlated with protection against alcoholism. [PMID 17718395
] [PMID 17718396] [PMID 16571603]
[PMID 22675424] ADH1C Ile350Val Polymorphism and Cancer Risk: Evidence from 35 Case–Control Studies
| ClinVar | |
|---|---|
| Risk | Rs2066702(T;T) |
| Alt | Rs2066702(T;T) |
| Reference | Rs2066702(C;C) |
| Significance | Other |
| Disease | Alcohol dependence |
| Variation | info |
| Gene | ADH1B |
| CLNDBN | Alcohol dependence |
| Reversed | 1 |
| HGVS | NC_000004.11:g.100229017G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019815.2, |
[PMID 12050823] A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity.
[PMID 16685648] Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence.
[PMID 17185388] Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 18996923] Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis.
[PMID 19526455] ADH1A variation predisposes to personality traits and substance dependence.
[PMID 21303386] Alcohol-metabolizing enzyme gene polymorphisms in the Basque Country, Morocco, and Ecuador.
[PMID 21497796] Strong association of the alcohol dehydrogenase 1B gene (ADH1B) with alcohol dependence and alcohol-induced medical diseases.
[PMID 21635275] Association of alcohol dehydrogenase genes with alcohol-related phenotypes in a Native American community sample.
[PMID 22560290] A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain.
