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{{ 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. }} {{PMID Auto |PMID=18424454 |Title=ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence. }} {{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. }} {{PMID Auto |PMID=21172166 |Title=Pharmacogenetics of antidepressant response. }} {{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 | FTDNA2}} {{on chip | HumanOmni1Quad}} {{on chip | Illumina Human 1M}}
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