Table 1_Identification of a TOP3A genetic variant as a novel biomarker for sensitivity to

A dataset by Tana Takacova, last updated May 2026, documents a pharmacogenomic study identifying a genetic variant linked to doxorubicin sensitivity. The analysis used genotype data from the 1,000 Human Genome and HapMap Projects to test associations with cytotoxicity EC50 values in 184 human lymphoblastoid cell lines of European ancestry. The study identified rs113270903 in the TOP3A gene as a biomarker, with variant carriers showing approximately 30% lower doxorubicin EC50.

Use Cases

• Validate genetic associations with drug cytotoxicity based on EC50 values.
• Train models to predict doxorubicin sensitivity using genotype data.
• Replicate biomarker discovery workflows using training and test cohort splits.
• Benchmark statistical methods for pharmacogenomic association studies.

Strengths

• Data includes results from a two-stage validation using a training set of 120 cell lines and an independent test set of 64 cell lines.
• Analysis tested 1,126 polymorphic sites across five topoisomerase genes, with 468 at a minor allele frequency ≥ 5%.
• The identified variant effect size is quantified, with carriers exhibiting approximately 30% lower doxorubicin EC50.

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• Data may reflect geographic bias inherent to the use of cell lines from individuals of European ancestry.

Provenance

Source

Tana Takacova via figshare.

Collection Method

Fluorescence-activated cell sorting to determine EC50 values for doxorubicin cytotoxicity in lymphoblastoid cell lines; genotype data retrieved from public genome projects.

Freshness

Last updated 2026-05-13 07:30:27; freshness should be verified.

Geography

Cell lines are of European ancestry.