PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships

Community Genet. 2006;9(1):55-61. doi: 10.1159/000090694.


Objective: Patient samples used for mapping complex human disease genes are unlikely to be representative of the phenotype spectrum of the respective population as a whole. On the other hand, most ongoing prospective studies are probably too small for evaluating polygenic disease markers.

Design: Precise estimates of population-specific genotypic risks can be obtained efficiently through the complete ascertainment of patients in a geographically confined area. The PopGen project uses the most northern part of Germany as a target region for such a pursuit.

Results: PopGen currently pursues recruitment, sampling and processing activities in close collaboration with a multitude of clinical partners, covering cardiovascular, neuropsychiatric and environmental diseases.

Conclusion: PopGen has successfully established itself as a large-scale genetic epidemiological project of international recognition.

Publication types

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

MeSH terms

  • Cardiovascular Diseases / genetics
  • Cross-Sectional Studies
  • Environmental Illness / genetics
  • Genetic Testing*
  • Genetics, Population*
  • Genotype
  • Germany
  • Humans
  • Mental Disorders / genetics
  • Nervous System Diseases / genetics
  • Patient Selection*
  • Phenotype
  • Prospective Studies
  • Research Design