Variant:

rs17244841 at chr5:74642855 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 3 annotations for this variant. Register or sign in to see them.

VIP Variant in HMGCR

Also known as SNP 12, the estimated allele frequencies of this variant in the predominantly Caucasian PRINCE population (88.7%) are A=0.965 and T=0.035. In a study of 1536 individuals, SNP 12 was significantly associated with the mean change in both total and LDL-cholesterol. Heterozygous individuals had a 21.8% reduction in total cholesterol lowering and a 19.0% reduction in LDL-cholesterol lowering after pravastatin treatment as compared to individuals homozygous for the major (A) allele. There was no genotype effect on HDL-cholesterol changes. These effects remained significant after multiple testing, were not associated with baseline differences, and the LDL-cholesterol effect became stronger after ethnic stratification [Article:15199031]. SNP 12 was also reported to be significantly associated with reduced total and LDL-cholesterol response to simvastatin treatment, 6 weeks of 40 mg/day, in the CAP population, comprised of 335 African Americans and 596 Caucasians. Although similar allele frequency and effect sizes were reported between the PRINCE and CAP populations, the relationship was only seen in the African American subset of the CAP cohort [Article:18332269]. In contrast, this association was not identified in the ALERT population of 707 Caucasian fluvastatin treated renal transplant patients [Article:17563401].

Frequency Table

Publications related to rs17244841 at chr5:74642855: 3

CA VA 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]
CA VA VIP	Genetic analysis of fluvastatin response and dyslipidemia in renal transplant recipients. Journal of lipid research. 2007. Singer Jonathan B, et al. [Article:17563401@PubMed]
CA VA VIP	Pharmacogenetic study of statin therapy and cholesterol reduction. JAMA : the journal of the American Medical Association. 2004. Chasman Daniel I, et al. [Article:15199031@PubMed]

Cross-References

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