Variant:

rs3846662 at chr5:74651084 in HMGCR (VIP)

Clinical Annotations

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Variant Annotations

PharmGKB variant annotations provide information about variant-drug pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.

Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.

There are 2 annotations for this variant. Register or sign in to see them.

There are 1 disease-related annotations for this variant. Register or sign in to see them.

VIP Variant in HMGCR

Also known as SNP 20144, rs3846662 occurs in the CAP population (Caucasian n=596, African American n=326) at a frequency of A=0.615 and G=0.385, however, the allele frequency varies greatly between racial groups as the "A" allele is significantly more prevalent in the Caucasians compared to the African Americans [Article:18332269]. While this SNP by itself is not significantly associated with statin response, it is one of three SNPs which defines HMGCR haplotype 7 (H7), that has been shown to be associated with reduced simvastatin and pravastatin response. In addition, SNP 20144 regulates alternative splicing of HMGCR exon 13 to produce a transcript in which exon 13 has been completely omitted. A GWAS HMGCR SNP, rs12654264, in tight linkage disequilibrium with the SNP 20144 (r2>0.8) has been reported in multiple independent populations to be associated with endogenous variation in plasma LDL-cholesterol [Articles:18802019, 18354102, 18193044].

Frequency Table

Publications related to rs3846662 at chr5:74651084: 3

VA	Effect of HMGCR Variant Alleles on Low-Density Lipoprotein Cholesterol-Lowering Response to Atorvastatin in Healthy Korean Subjects. Journal of clinical pharmacology. 2011. Chung Jae Yong, et al. [Article:21427285@PubMed]
CA VA VIP	Alternative splicing of 3-hydroxy-3-methylglutaryl coenzyme A reductase is associated with plasma low-density lipoprotein cholesterol response to simvastatin. Circulation. 2008. Medina Marisa Wong, et al. [Article:18559695@PubMed]
VIP	Variation in the 3-hydroxyl-3-methylglutaryl coenzyme a reductase gene is associated with racial differences in low-density lipoprotein cholesterol response to simvastatin treatment. Circulation. 2008. Krauss Ronald M, et al. [Article:18332269@PubMed]

Cross-References

Platform Availability

• Affymetrix
• Illumina

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