Novel genetic analysis for case-control genome-wide association studies: quantification of power and genomic prediction accuracy

PLoS One. 2013 Aug 19;8(8):e71494. doi: 10.1371/journal.pone.0071494. eCollection 2013.

Abstract

Genome-wide association studies (GWAS) are routinely conducted for both quantitative and binary (disease) traits. We present two analytical tools for use in the experimental design of GWAS. Firstly, we present power calculations quantifying power in a unified framework for a range of scenarios. In this context we consider the utility of quantitative scores (e.g. endophenotypes) that may be available on cases only or both cases and controls. Secondly, we consider, the accuracy of prediction of genetic risk from genome-wide SNPs and derive an expression for genomic prediction accuracy using a liability threshold model for disease traits in a case-control design. The expected values based on our derived equations for both power and prediction accuracy agree well with observed estimates from simulations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Computer Simulation
  • Genetic Predisposition to Disease
  • Genome, Human / genetics*
  • Genome-Wide Association Study*
  • Genomics / methods*
  • Humans
  • Polymorphism, Single Nucleotide / genetics

Grants and funding

This study was supported by Australian Research Council (FT0991360, DE130100614), National Health and Medical Research Council (1011506). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.