rs27072
| Associated with increased susceptibility to alcohol withdrawal symptoms and ADHD. |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | 2x risk of severe alcohol withdrawal. Possible increased odds of ADHD. |
| (C;T) | 1.9 | Lower risk of alcohol withdrawal seizures, and perhaps lower odds of ADHD. |
| (T;T) | 1.9 | Lower risk of alcohol withdrawal seizures, and probably lower odds of ADHD. |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 1394407 |
| Gene | SLC6A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs27072 |
| dbSNP (classic) | rs27072 |
| ClinGen | rs27072 |
| ebi | rs27072 |
| HLI | rs27072 |
| Exac | rs27072 |
| Gnomad | rs27072 |
| Varsome | rs27072 |
| LitVar | rs27072 |
| Map | rs27072 |
| PheGenI | rs27072 |
| Biobank | rs27072 |
| 1000 genomes | rs27072 |
| hgdp | rs27072 |
| ensembl | rs27072 |
| geneview | rs27072 |
| scholar | rs27072 |
| rs27072 | |
| pharmgkb | rs27072 |
| gwascentral | rs27072 |
| openSNP | rs27072 |
| 23andMe | rs27072 |
| SNPshot | rs27072 |
| SNPdbe | rs27072 |
| MSV3d | rs27072 |
| GWAS Ctlg | rs27072 |
| GMAF | 0.1919 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs27072, a SNP in the dopamine transporter SLC6A3 gene, has been associated with more severe symptoms upon alcohol withdrawal, such as seizures, in a study of 250 Caucasian alcohol-dependent patients. Two haplotypes appear to be tagged by this SNP and a neighbor, rs27048. The rs27072 polymorphism has been shown to be significantly associated with ADHD in clinical samples of Canadian children aged 6 to 16 [Feng et al., 2005] and the significant association was also reported by Ouellet-Morin et al. in a Canadian twin study, 2008 (Am. J. of Medical Genetics Part B, 147B:1442-1449 (2008). [PMID 18070248]
| OMIM | 126455 |
| Desc | SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE), |
| Variant | |
| Related | also |
[PMID 19740369]The interaction between the dopamine transporter gene and age at onset in relation to tobacco and alcohol use among 19-year-olds.
[PMID 19879111]Association of promoter variants of human dopamine transporter gene with schizophrenia in Han Chinese.
[PMID 21525861
]Dopamine Transporter Gene Variant Affecting Expression in Human Brain is Associated with Bipolar Disorder.
[PMID 16082693]Sequence variation in the 3'-untranslated region of the dopamine transporter gene and attention-deficit hyperactivity disorder (ADHD).
[PMID 18165969]Association of the dopamine transporter gene and ADHD symptoms in a Canadian population-based sample of same-age twins.
[PMID 19506906]Candidate gene studies of ADHD: a meta-analytic review.
[PMID 14685824] Association between polymorphism of the dopamine transporter gene and early smoking onset: an interaction risk on nicotine dependence.
[PMID 18690117] Gene and gene by sex associations with initial sensitivity to nicotine in nonsmokers.
[PMID 19693267] Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.
[PMID 20505557] Haplotypes of dopamine and serotonin transporter genes are associated with antisocial personality disorder in alcoholics.
[PMID 20580759] Pharacogenetic effects of dopamine transporter gene polymorphisms on response to chlorpromazine and clozapine and on extrapyramidal syndrome in schizophrenia.
[PMID 21354244] The role of dopamine transporter (SLC6A3) and dopamine D2 receptor/ankyrin repeat and kinase domain containing 1 (DRD2/ANKK1) gene polymorphisms in personality traits.
[PMID 23340505] Dopamine transporter DAT and receptor DRD2 variants affect risk of lethal cocaine abuse: a gene-gene-environment interaction
[PMID 23647133] The association of a novel haplotype in the dopamine transporter with preschool age posttraumatic stress disorder.
[PMID 24780147] Association of dopamine gene variants, emotion dysregulation and ADHD in autism spectrum disorder
[PMID 25683821] The dopamine transporter gene may not contribute to susceptibility and the specific personality traits of amphetamine dependence
