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rs12654264

From SNPedia

Orientationplus
Stabilizedplus
Make rs12654264(A;A)
Make rs12654264(A;T)
Make rs12654264(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position75352778
GeneHMGCR
is asnp
is mentioned by
dbSNPrs12654264
ebirs12654264
HLIrs12654264
Exacrs12654264
Varsomers12654264
Maprs12654264
PheGenIrs12654264
hapmaprs12654264
1000 genomesrs12654264
hgdprs12654264
ensemblrs12654264
gopubmedrs12654264
geneviewrs12654264
scholarrs12654264
googlers12654264
pharmgkbrs12654264
gwascentralrs12654264
openSNPrs12654264
23andMers12654264
23andMe allrs12654264
SNP Nexus

SNPshotrs12654264
SNPdbers12654264
MSV3drs12654264
GWAS Ctlgrs12654264
GMAF0.4164
Max Magnitude
? (A;A) (A;T) (T;T) 28
GWAS snp
PMID [PMID 18193044OA-icon.png]
Trait LDL cholesterol
Title Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
Risk Allele T
P-val 9.9999999999999995E-21
Odds Ratio 0.10 [0.08-0.12] % SD higher
OMIM142910
Desc3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE; HMGCR
Variant
Relatedalso

[PMID 20403997] Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer by Lipkin SM, Chao EC, Moreno V, Rozek LS, Rennert H, Pinchev M, Dizon D, Rennert G, Kopelovich L, Gruber SB in Cancer Prev Res (Phila Pa). 2010 May;3(5):597-603.

The above study shows that genotyping for HMGCR rs1265464 may help identify the subset of individuals who are most likely to achieve a CRC risk reduction and cholesterol lowering with statins. Compared with individuals not taking statins, the unadjusted odds ratio of colorectal cancer among rs12654264(A;A) statin users was 0.3 (CI: 0.18-0.51) and among rs12654264(T;T) statin users, 0.66 (CI: 0.41-1.06, p-interaction 0.0012).

Their data may advance the development of personalized statin use for reducing the risk of cancer as well as cardiovascular disease among the approximately 25 million people currently using statins worldwide.


[PMID 20403997] Genetic Variation in 3-Hydroxy-3-Methylglutaryl CoA Reductase Modifies the Chemopreventive Activity of Statins for Colorectal Cancer

[PMID 19773416OA-icon.png] A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women



[PMID 21149302OA-icon.png] Effects of genetic variants on lipid parameters and dyslipidemia in a Chinese population

GWAS snp
PMID [PMID 21909109]
Trait
Title Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
Risk Allele T
P-val 1E-20
Odds Ratio 2.7106 [2.14-3.28] mg/dL decrease

[PMID 18802019OA-icon.png] Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.


[PMID 18852197OA-icon.png] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.


[PMID 19060910OA-icon.png] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.


[PMID 19148283OA-icon.png] Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.


[PMID 19185284OA-icon.png] Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.


[PMID 19197348OA-icon.png] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.


[PMID 19299407OA-icon.png] Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.


[PMID 19435741OA-icon.png] Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.


[PMID 19554360OA-icon.png] The HMG-CoA reductase gene and lipid and lipoprotein levels: the multi-ethnic study of atherosclerosis.


[PMID 19682379OA-icon.png] TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.


[PMID 19951432OA-icon.png] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.


[PMID 20502693OA-icon.png] Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.


[PMID 20972250] Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.


GET Evidence
rs12654264
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.382812
summary



[PMID 23098650] Impact of variants within seven candidate genes on statin treatment efficacy


ClinVar
Risk rs12654264(T;T)
Alt rs12654264(T;T)
Reference rs12654264(A;A)
Significance Other
Disease Low density lipoprotein cholesterol level quantitative trait locus 3
Variation info
Gene HMGCR
CLNDBN Low density lipoprotein cholesterol level quantitative trait locus 3
Reversed 0
HGVS NC_000005.9:g.74648603A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016032.3,