Epidemiol Health.  2016;38:e2016058. 10.4178/epih.e2016058.

Meta-analysis for genome-wide association studies using case-control design: application and practice

  • 1Institute for Clinical Molecular Biology Research, Soonchunhyang University Hospital, Seoul, Korea.
  • 2Department of Radiation Oncology, Ewha Womans University School of Medicine, Seoul, Korea.
  • 3Department of Education, Jeonju University, Jeonju, Korea.
  • 4Department of Preventive Medicine, Jeju National University School of Medicine, Jeju, Korea. jmbae@jejunu.ac.kr


This review aimed to arrange the process of a systematic review of genome-wide association studies in order to practice and apply a genome-wide meta-analysis (GWMA). The process has a series of five steps: searching and selection, extraction of related information, evaluation of validity, meta-analysis by type of genetic model, and evaluation of heterogeneity. In contrast to intervention meta-analyses, GWMA has to evaluate the Hardy-Weinberg equilibrium (HWE) in the third step and conduct meta-analyses by five potential genetic models, including dominant, recessive, homozygote contrast, heterozygote contrast, and allelic contrast in the fourth step. The "˜genhwcci' and "˜metan' commands of STATA software evaluate the HWE and calculate a summary effect size, respectively. A meta-regression using the "˜metareg' command of STATA should be conducted to evaluate related factors of heterogeneities.


Meta-analysis; Reviews; Genome-wide association study; Polymorphism; Genetic models

MeSH Terms

Case-Control Studies*
Genome-Wide Association Study*
Models, Genetic
Population Characteristics
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