Annotation of rs13120400

Genotypes CC + CT is associated with increased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype TT.

Individuals with the CC or CT genotype had a higher cumulative incidence of major molecular response (CI-MMR, estimated using Sokal score) after 18 months of treatment with a 400mg/day dose of imatinib, as compared to those with the TT genotype. No significant results were seen when considering patients taking a 600mg/day dose (n=107; p=0.74). The authors note that they used the Benjamini and Hochberg method for multiple testing issues.

From Publication

High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients. Oncotarget. 2013. Delord Marc et al.
PMID:24123600(opens in new window) PMCID:PMC3858547(opens in new window) DOI:10.18632/oncotarget.1050(opens in new window)

Gene

ABCG2

Variant

rs13120400

Phenotype Category

Efficacy

Association Significance

The study reports this association is significant

PharmGKB ID

1184512524

Score
More info on scoring

2

Evidence for Clinical Annotations

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

  1. Clinical Annotation for rs13120400 (ABCG2); imatinib; Leukemia, Myelogenous, Chronic, BCR-ABL Positive (level 3 Efficacy)

Study Parameters

Study type

cohort

Study size

132

Association p-value

= 0.046

Population description

Disease: Chronic phase chronic myelogenous leukemia. SPIRIT 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

No history available.