Choice of population structure informative principal components for adjustment in a case-control study
2011

Choosing the Right Principal Components for Genetic Studies

Sample size: 1000 publication 10 minutes Evidence: moderate

Author Information

Author(s): Gina M Peloso, Kathryn L Lunetta

Primary Institution: Boston University School of Public Health

Hypothesis

What is the optimal approach for adjusting for population structure in genetic association studies?

Conclusion

Selecting the appropriate principal components for adjustment can optimize power in genetic association studies.

Supporting Evidence

  • The study found that all methods of selection provided similar power when SNP and phenotype frequencies do not vary.
  • When the SNP is structured and the phenotype is not, including PCs in the model increases power.
  • The optimal choice of PCs for adjustment is SNP-dependent.

Takeaway

This study helps scientists figure out how to adjust their data to get better results when looking for genetic links to diseases.

Methodology

Simulation studies were performed to evaluate the Type I error and power of associations between case/control status and SNPs when adjusting for selected principal components.

Potential Biases

Potential bias may arise from not adjusting for population structure, leading to false positive associations.

Limitations

The study primarily focused on linear PC adjustment models and did not explore local ancestry adjustments.

Participant Demographics

Two sub-populations of 500 individuals each were simulated.

Statistical Information

P-Value

0.001

Confidence Interval

0.036 to 0.064

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2156-12-64

Want to read the original?

Access the complete publication on the publisher's website

View Original Publication