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

  • Krawczak M
  • Nikolaus S
  • Von Eberstein H
 et al. 
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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.

Author-supplied keywords

  • Biobank
  • Complex diseases
  • Genetic epidemiology
  • Genotype-phenotype relationship
  • Population-based sampling
  • Relative risk

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  • Michael Krawczak

  • Susanna Nikolaus

  • Huberta Von Eberstein

  • Peter J P Croucher

  • Nour Eddine El Mokhtari

  • Stefan Schreiber

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