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rs11983225

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(C;T) 0
(T;T) 0
ReferenceGRCh38 38.1/141
Chromosome7
Position87532204
GeneABCB1
is asnp
is mentioned by
dbSNPrs11983225
dbSNP (old)rs11983225
ClinGenrs11983225
ebirs11983225
HLIrs11983225
Exacrs11983225
Gnomadrs11983225
Varsomers11983225
Maprs11983225
PheGenIrs11983225
Biobankrs11983225
1000 genomesrs11983225
hgdprs11983225
ensemblrs11983225
gopubmedrs11983225
geneviewrs11983225
scholarrs11983225
googlers11983225
pharmgkbrs11983225
gwascentralrs11983225
openSNPrs11983225
23andMers11983225
23andMe allrs11983225
SNPshotrs11983225
SNPdbers11983225
MSV3drs11983225
GWAS Ctlgrs11983225
GMAF0.1318
Max Magnitude0
? (C;C) (C;T) (T;T) 28

rs11983225 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 their efficacy or potential for adverse side effects. However, the link between the increased brain concentrations of antidepressants and a clinically significant response is unconfirmed. In clinic, even the lower concentrations of drugs may achieve sufficient antidepressant effect, and the dose of the drug can be adjusted upwards until the patient responds. According to a recent review [PMID 27918249], ten studies reported that ABCB1 SNPs have clinical effect in depression and eight that they do not.

rs11983225 is one of 9 SNPs found within a tight linkage block (r2 >= 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 citalopram, paroxetine, amitriptyline, or venlafaxine (substrates of the protein encoded by ABCB1), a highly statistically significant association between the overall genetic variability of these SNPs and the remission was reported by Uhr et al in a study of ~400 German inpatients.10.1016/j.neuron.2007.11.017 However, the result for rs11983225 has to be treated with caution. A well-run, double-blind study of ABCB1 substrate citalopram in depression (STAR-D study) and a following meta-analysis [PMID 25847751] failed to replicate several Uhr et al. results for other ABCB1 SNPs in this block.

The 9 SNPs in the linkage block identified are 10.1016/j.neuron.2007.11.017:



[PMID 15197162OA-icon.png] Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene.