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rs12720067

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A)
(A;G)
(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position87540040
GeneABCB1
is asnp
is mentioned by
dbSNPrs12720067
dbSNP (classic)rs12720067
ClinGenrs12720067
ebirs12720067
HLIrs12720067
Exacrs12720067
Gnomadrs12720067
Varsomers12720067
LitVarrs12720067
Maprs12720067
PheGenIrs12720067
Biobankrs12720067
1000 genomesrs12720067
hgdprs12720067
ensemblrs12720067
geneviewrs12720067
scholarrs12720067
googlers12720067
pharmgkbrs12720067
gwascentralrs12720067
openSNPrs12720067
23andMers12720067
23andMe allrs12720067
SNPshotrs12720067
SNPdbers12720067
MSV3drs12720067
GWAS Ctlgrs12720067
GMAF0.08081
Max Magnitude0
? (A;A) (A;G) (G;G) 28


rs12720067 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.

rs12720067 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.10.1016/j.neuron.2007.11.017

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 rs12720067 has to be treated with caution. A large (900 subjects) 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.


[PMID 18382661OA-icon.png] Pharmacokinetic genes do not influence response or tolerance to citalopram in the STAR*D sample.