Annotation of rs116855232

Genotype CT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC.

One patient had the CT genotype and tolerated only 33.33% of the planned mercaptopurine dose, a statistically significant difference from the median-tolerated dose in the rest of the cohort (in those who did not carry this variant: 74%, in those who did not carry this variant OR TPMT*3A: 76%).

From Publication

NUDT15 and TPMT genetic polymorphisms are related to 6-mercaptopurine intolerance in children treated for acute lymphoblastic leukemia at the Children's Cancer Center of Lebanon. Pediatric blood & cancer. 2017. Zgheib Nathalie K et al.
PMID:27577869(opens in new window) DOI:10.1002/pbc.26189(opens in new window)

Gene

NUDT15

Variant

rs116855232

Phenotype Category

Dosage

Association Significance

The study reports this association is significant

Specialty Population

PediatricLearn more about pediatric tags(opens in new window)

PharmGKB ID

1448260651

Score
More info on scoring

2

Evidence for Clinical Annotations

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

    Study Parameters

    Study type

    cohort

    Study size

    137 (cases=1; controls=136)

    Association p-value

    = 0.029

    Allele frequency

    T=0.004

    Biogeographical group
    More info on groups

    Near Eastern

    Population description

    children (pediatrics)

    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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