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


METHODS
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.


CONCLUSIONS
PopGen has successfully established itself as a large-scale genetic epidemiological project of international recognition.
Krawczak
Michael
M
Institute of Medical Informatics and Statistics, Christian Albrechts University, Kiel, Germany. krawczak@medinfo.uni-kiel.de
Nikolaus
Susanna
S
von Eberstein
Huberta
H
Croucher
Peter J P
PJ
El Mokhtari
Nour Eddine
NE
Schreiber
Stefan
S
D002318:Cardiovascular Diseases / Q000235:genetics; D003430:Cross-Sectional Studies; D018876:Environmental Illness / Q000235:genetics; D005820:Genetic Testing; D005828:Genetics, Population; D005838:Genotype; D005858:Germany; D006801:Humans; D001523:Mental Disorders / Q000235:genetics; D009422:Nervous System Diseases / Q000235:genetics; D018579:Patient Selection; D010641:Phenotype; D011446:Prospective Studies; D012107:Research Design