Interactions between Glucocorticoid Treatment and Cis-Regulatory Polymorphisms Contribute to Cellular Response Phenotypes
2011

How Genetic Variation Affects Response to Glucocorticoids

Sample size: 114 publication Evidence: high

Author Information

Author(s): Maranville Joseph C., Luca Francesca, Richards Allison L., Wen Xiaoquan, Witonsky David B., Baxter Shaneen, Stephens Matthew, Di Rienzo Anna

Primary Institution: The University of Chicago

Hypothesis

What is the genetic basis of variation in cellular response to glucocorticoid treatment?

Conclusion

The study found that genetic variation significantly influences the cellular response to glucocorticoid treatment, affecting the expression of multiple genes.

Supporting Evidence

  • The study identified interactions that influence the expression of 26 genes involved in glucocorticoid pathways.
  • Genetic variation was shown to affect the response of nearby genes in both glucocorticoid-treated and control conditions.
  • A novel statistical framework was developed to distinguish different types of genotype-treatment interactions.

Takeaway

This study looked at how our genes can change how our bodies respond to a type of medicine called glucocorticoids, which help with stress and inflammation.

Methodology

The researchers profiled gene expression and protein secretion in EBV-transformed B lymphocytes from individuals of African and European ancestry after glucocorticoid treatment.

Potential Biases

Potential for false positives in identifying eQTL interactions due to the limitations of the allelic imbalance assay.

Limitations

The hierarchical model used may miss interacting SNPs in genes that contain both interacting and non-interacting eQTLs.

Participant Demographics

Participants included individuals of African (Yoruba) and European (Toscani) ancestry.

Statistical Information

P-Value

p<0.003

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pgen.1002162

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