Annotation of rs7668258

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

4 studies evaluated the association between CC & TT and adj. serum concentration of VPA. In overall analysis of 4 studies found no association with genotype and adj. serum concentration (P = 0.35). In subgroup analysis, the TT genotype was not significantly associated with serum concentration versus CC genotype in monotherapy (P =0.71) but was associated with increased concentrations based on combination therapy data (P = 0.002). No sub-group anayses were done by age.

From Publication

Effect of UGT2B7 genotypes on plasma concentration of valproic acid: a meta-analysis. European journal of clinical pharmacology. 2018. Wang Ping et al.
PMID:29243113(opens in new window) DOI:10.1007/s00228-017-2395-z(opens in new window)

Gene

UGT2B7

Variant

rs7668258

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

1449169125

Score
More info on scoring

1

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

    123

    Association p-value

    = 0.002

    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

    190

    Association p-value

    = 0.09

    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

    3.

    Study type

    meta-analysis

    Study size

    313

    Association p-value

    = 0.35

    Biogeographical group
    More info on groups

    Multiple groups, Mostly Asian

    Population description

    children (pediatrics); men; women

    Drug: VPA dose adj. concentration overall; 4 studies in patients on VPA

    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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