Annotation of rs9394992

Genotypes CT + TT is associated with increased response to tipiracil hydrochloride and trifluridine in people with Colorectal Neoplasms as compared to genotype CC.

The SNP was tested for association alone and with three other SNPs after univariate and multivariate analysis in a training (N= 52, Japan) and testing cohorts (N = 127, Italy). Although it remained significantly associated with progression-free and overall survival in univariate and multivariate analysis in the training cohort, it was not significant in the testing cohort.

From Publication

Potential role of polymorphisms in the transporter genes ENT1 and MATE1/OCT2 in predicting TAS-102 efficacy and toxicity in patients with refractory metastatic colorectal cancer. European journal of cancer (Oxford, England : 1990). 2017. Suenaga Mitsukuni et al.
PMID:28992563(opens in new window) PMCID:PMC7497848(opens in new window) DOI:10.1016/j.ejca.2017.08.033(opens in new window)

Gene

SLC29A1

Variant

rs9394992

Phenotype Category

Efficacy

Association Significance

The study reports this association is significant

PharmGKB ID

1449146792

Score
More info on scoring

3.25

Evidence for Clinical Annotations

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

    Study Parameters

    1.

    Study type

    cohort

    Study size

    52

    Association p-value

    = 0.001

    Statistical analysis

    HR: 0.2

    Confidence interval

    0.08 - 0.51

    Allele frequency

    C=0.64; T=0.36

    Biogeographical group
    More info on groups

    East Asian

    Population description

    men; women

    Study Cohort: overall survival in training cohort

    2.

    Study type

    cohort

    Study size

    52

    Association p-value

    = 0.016

    Statistical analysis

    HR: 0.44

    Confidence interval

    0.23 - 0.86

    Allele frequency

    C=0.64; T=0.36

    Biogeographical group
    More info on groups

    East Asian

    Population description

    men; women

    Study Cohort: progression free survival in training cohort

    3.

    Study type

    cohort

    Study size

    127

    Association p-value

    = 0.28

    Statistical analysis

    HR: 0.81

    Confidence interval

    0.54 - 1.19

    Allele frequency

    C=0.68; T=0.32

    Biogeographical group
    More info on groups

    European

    Population description

    men; women

    Study Cohort: progression free survival in the testing cohort

    4.

    Study type

    cohort

    Study size

    127

    Association p-value

    = 0.54

    Statistical analysis

    HR: 1.19

    Confidence interval

    0.69 - 2.07

    Allele frequency

    C=0.68; T=0.32

    Biogeographical group
    More info on groups

    European

    Population description

    men; women

    Study Cohort: progression free survival in testing cohort

    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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