Annotation of rs28363170

Genotype GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT/GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT is associated with increased response to disulfiram in people with Cocaine-Related Disorders as compared to genotypes GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT/del + del/del.

GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT allele referred to in the paper as the 10-repeat allele. Patients with the 10,10-repeat genotype showed a significantly greater decrease in the number of cocaine-positive urine tests and a significantly greater increase in the number of cocaine-negative urine tests than patients with either the 9,9-repeat or 9,10-repeat genotypes. This association was not seen in genotyped patients treated with placebo.

From Publication

Pharmacogenetic role of dopamine transporter (SLC6A3) variation on response to disulfiram treatment for cocaine addiction. The American journal on addictions. 2019. Kampangkaew June P et al.
PMID:31087723(opens in new window) PMCID:PMC6591035(opens in new window) DOI:10.1111/ajad.12891(opens in new window)

Gene

SLC6A3

Variant

rs28363170

Phenotype Category

Efficacy

Association Significance

The study reports this association is significant

PharmGKB ID

1451106680

Score
More info on scoring

2.5

Evidence for Clinical Annotations

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

    Study Parameters

    1.

    Study type

    cohort

    Study size

    32

    Association p-value

    = 0.0001

    Allele frequency

    GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT=0.694

    Biogeographical group
    More info on groups

    Multiple groups, "Primarily Caucasian"

    Population description

    men; women

    Study Cohort: Allele frequency given for the total study cohort of 67 patients, including those treated with placebo. P-value given for association of genotype with change in number of cocaine-positive urine tests.

    2.

    Study type

    cohort

    Study size

    32

    Association p-value

    < 0.0001

    Allele frequency

    GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT=0.694

    Biogeographical group
    More info on groups

    Multiple groups, "Primarily Caucasian"

    Population description

    men; women

    Study Cohort: Allele frequency given for the total study cohort of 67 patients, including those treated with placebo. P-value given for association of genotype with change in number of cocaine-negative urine tests.

    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

    No history available.