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rs17244841

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 more responsive to statin treatment
(A;T) not as responsive to statin treatment
(T;T) not as responsive to statin treatment
ReferenceGRCh38 38.1/141
Chromosome5
Position75347030
GeneHMGCR
is asnp
is mentioned by
dbSNPrs17244841
ebirs17244841
HLIrs17244841
Exacrs17244841
Varsomers17244841
Maprs17244841
PheGenIrs17244841
hapmaprs17244841
1000 genomesrs17244841
hgdprs17244841
ensemblrs17244841
gopubmedrs17244841
geneviewrs17244841
scholarrs17244841
googlers17244841
pharmgkbrs17244841
gwascentralrs17244841
openSNPrs17244841
23andMers17244841
23andMe allrs17244841
SNP Nexus

SNPshotrs17244841
SNPdbers17244841
MSV3drs17244841
GWAS Ctlgrs17244841
GMAF0.03811
Max Magnitude0
rs17244841, also known as SNP 12, is located in the HMG-CoA reductase HMGCR gene. The protein encoded by this gene is the target for drugs designed to inhibit its action, in order to lower cholesterol levels. SNPs in the HMGCR gene may affect how well such drugs (typically statins) work.

In a study of ~1,500 patients treated with 40mg/d of pravastatin, rs17244841(A;T) heterozgyotes had a mean decrease in total cholesterol of –32.8 mg/dL (–0.85 mmol/L), while the mean change for rs17244841(A;A) homozygotes was –42.0 mg/dL (–1.09 mmol/L), a reduction in overall efficacy of 21.8% (absolute difference, 9.2 mg/dL, CI: 3.8-14.6 mg/dL, p=.001). The drop in total cholesterol was almost completely due to the decrease in LDL cholesterol, as there was no significant difference in the change in HDL cholesterol with pravastatin between genotypes.[PMID 15199031]

This SNP is in tight linkage (r2>0.90) with another, rs17238540, so practically speaking, they are equivalent to each other.



[PMID 18559695OA-icon.png] Alternative splicing of 3-hydroxy-3-methylglutaryl coenzyme A reductase is associated with plasma low-density lipoprotein cholesterol response to simvastatin.


[PMID 20005478OA-icon.png] The role of HMGCR alternative splicing in statin efficacy.


GET Evidence
rs17244841
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0326087
summary



ClinVar
Risk rs17244841(T;T)
Alt rs17244841(T;T)
Reference rs17244841(A;A)
Significance Drug-response
Disease pravastatin response - Efficacy simvastatin response - Efficacy hmg coa reductase inhibitors response - Efficacy
Variation info
Gene HMGCR
CLNDBN pravastatin response - Efficacy simvastatin response - Efficacy hmg coa reductase inhibitors response - Efficacy
Reversed 0
HGVS NC_000005.9:g.74642855A>T
CLNSRC PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000211169.1, RCV000211290.1, RCV000211382.1,