{{Rsnum
|rsid=2032583
|Gene=ABCB1
|Chromosome=7
|position=87531245
|Orientation=plus
|GMAF=0.1318
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ABCB1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 0.9 | 27.4 | 71.7
| HCB | 0.0 | 9.5 | 90.5
| JPT | 0.9 | 15.9 | 83.2
| YRI | 8.2 | 35.6 | 56.2
| ASW | 3.5 | 31.6 | 64.9
| CHB | 0.0 | 9.5 | 90.5
| CHD | 0.0 | 6.4 | 93.6
| GIH | 2.0 | 32.7 | 65.3
| LWK | 6.4 | 32.1 | 61.5
| MEX | 0.0 | 20.7 | 79.3
| MKK | 6.4 | 32.1 | 61.5
| TSI | 1.0 | 27.7 | 71.3
| HapMapRevision=28
}}[[rs2032583]] is a SNP in the [[ABCB1]] gene (also known as the MDR1 gene), which encodes a protein that transports certain molecules across the blood-brain barrier. SNPs in [[ABCB1]] may thus influence the intracerebral concentrations of certain drugs and thus their efficacy or potential for adverse side effects. [[rs2032583]] is one of 9 SNPs found within a tight linkage block (r<sup>2</sup> >= 0.8 ) such that the minor allele at any one of them predicts (with ~80%+ accuracy) that the other SNPs will also be the minor allele. The list of the 9 SNPs is shown below.

When treated for [[depression]] with substrates of the protein encoded by [[ABCB1]], carriers of one or two minor alleles at these [[ABCB1]] SNPs have been reported to respond better than non-carriers. The [[antidepressant]] drugs that are known to be substrates include [[citalopram]], [[paroxetine]], [[amitriptyline]], and [[venlafaxine]]. The relative odds of better response for [[rs2032583]](C) carriers is 7.72 (CI: 2.8-21.3, p=0.000065) based on a study of ~400 primarily Caucasian patients.{{doi|10.1016/j.neuron.2007.11.017}}

The 9 SNPs in the linkage block identified are {{doi|10.1016/j.neuron.2007.11.017}}:
* [[rs2235067]]
* [[rs4148740]]
* [[rs2032583]]
* [[rs4148739]]
* [[rs11983225]]
* [[rs2235040]]
* [[rs12720067]]
* [[rs7787082]]
* [[rs10248420]]

{{PMID|19107781}} [[rs10248420]] and [[rs2032583]] associated with colonic disease

{{ neighbor
| rsid = 2032582
| distance = 57
}}

{{PharmGKB
|RSID=rs2032583
|Name_s=
|Gene_s=ABCB1
|Feature=
|Evidence=PubMed ID:18215618
|Annotation=This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.
|Drugs=amitriptyline; citalopram; paroxetine; venlafaxine
|Drug Classes=
|Diseases=Depression
|Curation Level=Curated
|PharmGKB Accession ID=PA161615691
}}

{{PMID Auto
|PMID=15197162
|Title=Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene.
|OA=1
}}

{{PMID Auto
|PMID=18424454
|Title=ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence.
|OA=1
}}

{{PMID Auto
|PMID=19844206
|Title=Sequence variations of ABCB1, SLC6A2, SLC6A3, SLC6A4, CREB1, CRHR1 and NTRK2: association with major depression and antidepressant response in Mexican-Americans.
|OA=1
}}

{{PMID Auto
|PMID=21172166
|Title=Pharmacogenetics of antidepressant response.
|OA=1
}}

{{PMID Auto
|PMID=21827404
|Title=The clinical impact of ABCB1 polymorphisms on the treatment of psychiatric diseases.
}}

{{PMID Auto
|PMID=21987299
|Title=Associations between variants in the ABCB1 (MDR1) gene and corticosteroid dependence in children with Crohn's disease.
}}

{{PMID Auto
|PMID=22641028
|Title=ABCB1 gene variants influence tolerance to selective serotonin reuptake inhibitors in a large sample of Dutch cases with major depressive disorder.
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2032583
|overall_frequency_n=1559
|overall_frequency_d=10748
|overall_frequency=0.14505
|n_genomes=14
|n_genomes_annotated=0
|n_haplomes=17
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=2
|webscore=N
|n_web_uneval=10
}}

{{PMID Auto
|PMID=22672924
|Title=Polymorphisms of the drug transporter gene ABCB1 predict side effects of treatment with cabergoline in patients with PRL adenomas
}}

{{PMID Auto
|PMID=23093106
|Title=Detection of frequent ABCB1 polymorphisms by high-resolution melting curve analysis and their effect on breast carcinoma prognosis
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}