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rs2235067

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(A;G) 0
(G;G) 0
ReferenceGRCh38 38.1/142
Chromosome7
Position87520606
GeneABCB1
is asnp
is mentioned by
dbSNPrs2235067
dbSNP (old)rs2235067
ClinGenrs2235067
ebirs2235067
HLIrs2235067
Exacrs2235067
Gnomadrs2235067
Varsomers2235067
LitVarrs2235067
Maprs2235067
PheGenIrs2235067
Biobankrs2235067
1000 genomesrs2235067
hgdprs2235067
ensemblrs2235067
gopubmedrs2235067
geneviewrs2235067
scholarrs2235067
googlers2235067
pharmgkbrs2235067
gwascentralrs2235067
openSNPrs2235067
23andMers2235067
23andMe allrs2235067
SNPshotrs2235067
SNPdbers2235067
MSV3drs2235067
GWAS Ctlgrs2235067
GMAF0.1226
Max Magnitude0
? (A;A) (A;G) (G;G) 28

rs2235067 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.

rs2235067 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 rs2235067 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 18424454OA-icon.png] ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence.