Polygenic Epidemiology

Genet Epidemiol. 2016 May;40(4):268-72. doi: 10.1002/gepi.21966. Epub 2016 Apr 7.


Much of the genetic basis of complex traits is present on current genotyping products, but the individual variants that affect the traits have largely not been identified. Several traditional problems in genetic epidemiology have recently been addressed by assuming a polygenic basis for disease and treating it as a single entity. Here I briefly review some of these applications, which collectively may be termed polygenic epidemiology. Methodologies in this area include polygenic scoring, linear mixed models, and linkage disequilibrium scoring. They have been used to establish a polygenic effect, estimate genetic correlation between traits, estimate how many variants affect a trait, stratify cases into subphenotypes, predict individual disease risks, and infer causal effects using Mendelian randomization. Polygenic epidemiology will continue to yield useful applications even while much of the specific variation underlying complex traits remains undiscovered.

Keywords: Mendelian randomization; genetic correlation; genetic risk prediction; missing heritability.

Publication types

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

MeSH terms

  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Linear Models
  • Linkage Disequilibrium
  • Models, Genetic
  • Molecular Epidemiology / methods*
  • Multifactorial Inheritance / genetics*
  • Phenotype