PopGen: Population-Based Recruitment of Patients and Controls for the Analysis of Complex Genotype-Phenotype Relationships

Institute of Medical Informatics and Statistics, Christian Albrechts University, Kiel, Germany.
Community Genetics (Impact Factor: 1.54). 02/2006; 9(1):55-61. DOI: 10.1159/000090694
Source: PubMed


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.
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.
PopGen currently pursues recruitment, sampling and processing activities in close collaboration with a multitude of clinical partners, covering cardiovascular, neuropsychiatric and environmental diseases.
PopGen has successfully established itself as a large-scale genetic epidemiological project of international recognition.

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    BioFactors 07/2015; 41(4). DOI:10.1002/biof.1216 · 4.59 Impact Factor
    • "The cases and younger controls used for the bullous pemphigoid (BP) and pemphigus vulgaris (PV) or pemphigus foliaceus (PF) association studies were provided by the popgen biological materials collection [42]. Control individuals aged 92 years and older are part of the German longevity sample collection and were recruited as described previously [43]. "
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    Journal of Autoimmunity 05/2015; 61. DOI:10.1016/j.jaut.2015.05.004 · 8.41 Impact Factor
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    • "Each marker was then evaluated for the number of alleles (Na), the effective number of alleles (Ne), the observed heterozygosity (Ho), and the expected heterozygosity (He) using POPGEN v.1.32 (Krawczak et al., 2006). Nei's genetic diversity and polymorphism information content (PIC) were calculated using PowerMarker 3.25 (Liu and Muse, 2005). "
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