Annotation of rs7668258

Genotype CT is associated with increased concentrations of valproic acid in people with Epilepsy as compared to genotype CC.

In overall analysis CT genotype was associated with increased serum concentration of valproic acid as compared with the CC genotype (P = 0.01) as well as in the sub-group analysis in combination therapy (P = 0.04). Hoqever, the CT genotype also did not significantly affect the adjusted serum concentration as compared with CC genotype based on monotherapy data (P = 0.10).

Gene

UGT2B7

Variant

rs7668258

Phenotype Category

Metabolism/PK

Association Significance

The study reports this association is significant

PharmGKB ID

1449169135

Evidence for Clinical Annotations

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

    Study Parameters

    1.

    Study type

    meta-analysis

    Study size

    219

    Association p-value

    = 0.004

    Biogeographical group
    More info on groups

    Multiple groups, Mostly Asian

    Population description

    children (pediatrics); men; women

    Drug: VPA dose adj. concentration; 2 sub-group study in patients on VPA combined therapy

    2.

    Study type

    meta-analysis

    Study size

    509

    Association p-value

    = 0.01

    Biogeographical group
    More info on groups

    Multiple groups, Mostly Asian

    Population description

    children (pediatrics); men; women

    Drug: VPA dose adj. concentration; overall from 4 studies in patients on VPA monotherapy and combination

    3.

    Study type

    meta-analysis

    Study size

    290

    Association p-value

    = 0.10

    Biogeographical group
    More info on groups

    Multiple groups, Mostly Asian

    Population description

    children (pediatrics); men; women

    Drug: VPA dose adj. concentration; 2 studies in patients on VPA monotherapy sub-study

    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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