Annotation of rs4149015

Genotype AG is associated with increased metabolism of pravastatin in children with Hyperlipoproteinemia Type II as compared to genotype GG.

2 patients with the AG genotype (who also had rs4149056 genotype TC) had significantly lower plasma Cmax and AUC. This variant was described as -11187G>A.

From Publication

Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes. British journal of clinical pharmacology. 2006. Hedman Mia et al.
PMID:16722833(opens in new window) PMCID:PMC1885108(opens in new window) DOI:10.1111/j.1365-2125.2006.02643.x(opens in new window)

Gene

SLCO1B1

Variant

rs4149015

Phenotype Category

Metabolism/PK

Association Significance

The study reports this association is significant

Specialty Population

PediatricLearn more about pediatric tags(opens in new window)

PharmGKB ID

982043099

Score
More info on scoring

1.5

Evidence for Clinical Annotations

This annotation has been used as evidence for the following clinical annotations.

    Study Parameters

    Study type

    cohort

    Study size

    20

    Association p-value

    < 1.0E-4

    Biogeographical group
    More info on groups

    Unknown. Not stated.

    Population description

    Study Cohort: Children with familial hypercholesterolaemia. Pravastatin was administered for a PK study on day 1, and continued daily for 2 months. P value given for Area Under the Concentration-time curve from time 0 to infinity.

    Note: Alleles in PharmGKB are mapped to the positive chromosomal strand. Therefore, variants in genes on the "minus" strand (eg. VKORC1) are complemented in PharmGKB annotations.

    History

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