A generalized model to estimate the statistical power in mitochondrial disease studies involving 2×k tables

PLoS One. 2013 Sep 27;8(9):e73567. doi: 10.1371/journal.pone.0073567. eCollection 2013.

Abstract

Background: Mitochondrial DNA (mtDNA) variation (i.e. haplogroups) has been analyzed in regards to a number of multifactorial diseases. The statistical power of a case-control study determines the a priori probability to reject the null hypothesis of homogeneity between cases and controls.

Methods/principal findings: We critically review previous approaches to the estimation of the statistical power based on the restricted scenario where the number of cases equals the number of controls, and propose a methodology that broadens procedures to more general situations. We developed statistical procedures that consider different disease scenarios, variable sample sizes in cases and controls, and variable number of haplogroups and effect sizes. The results indicate that the statistical power of a particular study can improve substantially by increasing the number of controls with respect to cases. In the opposite direction, the power decreases substantially when testing a growing number of haplogroups. We developed mitPower (http://bioinformatics.cesga.es/mitpower/), a web-based interface that implements the new statistical procedures and allows for the computation of the a priori statistical power in variable scenarios of case-control study designs, or e.g. the number of controls needed to reach fixed effect sizes.

Conclusions/significance: The present study provides with statistical procedures for the computation of statistical power in common as well as complex case-control study designs involving 2×k tables, with special application (but not exclusive) to mtDNA studies. In order to reach a wide range of researchers, we also provide a friendly web-based tool--mitPower--that can be used in both retrospective and prospective case-control disease studies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Case-Control Studies
  • DNA, Mitochondrial / genetics
  • Humans
  • Internet
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / physiopathology*
  • Models, Theoretical*
  • User-Computer Interface

Substances

  • DNA, Mitochondrial

Grants and funding

The research leading to these results has received funding from the “Ministerio de Ciencia e Innovación” (SAF2008-02971) and from the Plan Galego IDT, Xunta de Galicia (EM 2012/045) given to A.S. There are no conflicts of interest in this study. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.