Rs17238540

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is asnp
is mentioned by
dbSNPrs17238540
hapmaprs17238540
hgdprs17238540
ensemblrs17238540
gopubmedrs17238540
scholarrs17238540
googlers17238540
pharmgkbrs17238540
hgvbaseg2prs17238540
medrefsnprs17238540
23andMers17238540
SNP Nexus

GeneHMGCR
Chromosome5
Orientationplus
Position74691253
GenotypeEffect
rs17238540(G;G)more responsive to statin treatment
rs17238540(G;T)not as responsive to statin treatment
rs17238540(T;T)not as responsive to statin treatment


Genotypes Magnitude Summary
Rs17238540(G;G) more responsive to statin treatment
Rs17238540(G;T) not as responsive to statin treatment
Rs17238540(T;T) not as responsive to statin treatment
rs17238540, also known as SNP 29, 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, rs17238540(G;T) heterozgyotes had a mean decrease in total cholesterol of 32.5 mg/dL (0.85 mmol/L), while the mean change for rs17238540(T;T) homozygotes was 41.8 mg/dL (1.09 mmol/L), a reduction in overall efficacy of 22.3% (absolute difference, 9.3 mg/dL, CI: 3.8-14.7 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]

A separate study of 1,000 Scottish individuals taking statins found that 28% of rs17238540(T;T) individuals failed to reach target compared with 51% of the individuals carrying a (G) allele, yielding an adjusted odds ratio for failure of 2.93 (CI: 1.61-5.34) mmol/l, p=0.0005. Additionally, they found that heterozygotes had a 13% smaller reduction in total cholesterol (-32.3 vs. -37.1%, p=0.0081) and a 27% smaller reduction in triglycerides (-27.5 vs. -37.6%, p=0.0046), leading to their conclusion that rs17238540(G;T) heterozygotes may respond less well to statin therapy in terms of lowered total cholesterol and triglycerides. [PMID 18815589]

This SNP is in tight linkage (r2>0.90) with another, rs17244841, so practically speaking, they are equivalent to each other.


[PMID 19923996] HMGCR gene polymorphism is associated with stroke risk in the EPIC-Norfolk study

PharmGKBPA161145168
NameHMGCR:SNP 29
AnnotationConflicting studies, but this SNP has been associated with total cholesterol and LDL-cholesterol levels.
GeneHMGCR
FeatueIntron
EvidenceWeb Resource:http://www.pharmgkb.org/search/annotatedGene/hmgcr/variant.jsp
Drugspravastatin
Diseases
Curation LevelIn-Depth