Annotation of rs9561765

Genotype AG is associated with increased response to imatinib in people with Gastrointestinal Stromal Tumors as compared to genotype AA.

Patients with the AG genotype had prolonged time to progression, which was calculated from the start of therapy to the date of disease progression as documented by a CT scan performed every 3-4 months.

Gene

ABCC4

Variant

rs9561765

Phenotype Category

Efficacy

Association Significance

The study reports this association is significant

PharmGKB ID

982046742

Evidence for Clinical Annotations

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

    Study Parameters

    Study type

    cohort

    Study size

    54

    Association p-value

    = 0.032

    Statistical analysis

    HR: 0.12

    Confidence interval

    0.02 - 0.83

    Biogeographical group
    More info on groups

    European

    Population description

    Disease: Unresectable/metastatic gastrointestinal stromal tumors.

    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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