Genome-Wide Local Ancestry Approach Identifies Genes and Variants Associated with Chemotherapeutic Susceptibility in African Americans
2011

Identifying Genes Linked to Chemotherapy Response in African Americans

Sample size: 83 publication Evidence: moderate

Author Information

Author(s): Heather E. Wheeler, Lidija K. Gorsic, Marleen Welsh, Amy L. Stark, Eric R. Gamazon, Nancy J. Cox, Eileen M. Dolan

Primary Institution: University of Chicago

Hypothesis

Can local ancestry information improve the identification of genetic variants associated with chemotherapeutic susceptibility in African Americans?

Conclusion

The study identified several genetic variants and candidate genes associated with chemotherapeutic susceptibility in African Americans, highlighting the importance of including diverse populations in genetic research.

Supporting Evidence

  • 325 SNPs were associated with cytarabine AUC, 176 with 5′-DFUR AUC, 240 with carboplatin IC50, and 190 with cisplatin IC50.
  • 14 genes showed evidence of association with their respective chemotherapeutic phenotypes in the Yoruba population from Ibadan, Nigeria.
  • Some identified variants are found only in populations of African descent.

Takeaway

Scientists looked at the genes of 83 African Americans to see how they respond to cancer drugs, finding some unique genetic markers that could help understand why some people react differently to treatment.

Methodology

The study used genome-wide association studies (GWAS) with both SNP-based and gene-based approaches, incorporating local ancestry information to account for population structure.

Potential Biases

Potential biases may arise from the use of cell lines rather than actual patient data, which may not fully represent the complexities of human responses to chemotherapy.

Limitations

The results require further validation in larger cohorts and the study was limited to lymphoblastoid cell lines rather than clinical populations.

Participant Demographics

Participants were 83 African Americans from the Southwestern United States.

Statistical Information

P-Value

p≤10−4

Statistical Significance

p≤10−4

Digital Object Identifier (DOI)

10.1371/journal.pone.0021920

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