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.

Keywords:
Biobank, Complex diseases, Genetic epidemiology, Genotype-phenotype relationship, Population-based sampling, Relative risk
1.
Terwilliger JD, Weiss KM: Linkage disequilibrium mapping of complex disease: fantasy or reality? Curr Opin Biotechnol 1998;9:578–594.
2.
Schork NJ, Cardon LR, Xu X: The future of genetic epidemiology. Trends Genet 1998;14:266–272.
3.
Dekker MC, van Duijn CM: Prospects of genetic epidemiology in the 21st century. Eur J Epidemiol 2003;18:607–616.
4.
Wolf PA: Fifty years at Framingham: contributions to stroke epidemiology. Adv Neurol 2003;92:165–172.
5.
Austin MA, Harding S, McElroy C: Genebanks: a comparison of eight proposed international genetic databases. Community Genet 203;6:37–45.
6.
Barbour V: UK Biobank: a project in search of a protocol? Lancet 2003;361:1734–1738.
7.
Filipiak B, Heinrich J, Schäfer T, Ring J, Wichmann HE: Farming, rural lifestyle and atopy in adults from southern Germany – results from the MONICA/KORA study Augsburg. Clin Exp Allergy 2001;31:1829–1838.
8.
Klimis D, Gnardellis C, Trichopoulou A: Gender differences in blood lipids in a Greek island population. The EPIC study. Nutrition Res 2000;20:35–45.
9.
Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, Almer S, Tysk C, O’Morain CA, Gassull M, Binder V, Finkel Y, Cortot A, Modigliani R, Laurent-Puig P, Gower-Rousseau C, Macry J, Colombel JF, Sahbatou M, Thomas G: Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease. Nature 2001;411:599–603.
10.
Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, Achkar JP, Brant SR, Bayless TM, Kirschner BS, Hanauer SB, Nunez G, Cho JH: A frameshift mutation in NOD2 associated with susceptibility to Crohn’s disease. Nature 2001;411:603–606.
11.
Hampe J, Cuthbert A, Croucher PJ, Mirza MM, Mascheretti S, Fisher S, Frenzel H, King K, Hasselmeyer A, MacPherson AJ, Bridger S, van Deventer S, Forbes A, Nikolaus S, Lennard-Jones JE, Foelsch UR, Krawczak M, Lewis C, Schreiber S, Mathew CG: Association between insertion mutation in NOD2 gene and Crohn’s disease in German and British populations. Lancet 2001;357:1925–1928.
12.
Stoll M, Corneliussen B, Costello CM, Waetzig GH, Mellgard B, Koch WA, Rosenstiel P, Albrecht M, Croucher PJ, Seegert D, Nikolaus S, Hampe J, Lengauer T, Pierrou S, Foelsch UR, Mathew CG, Lagerstrom-Fermer M, Schreiber S: Genetic variation in DLG5 is associated with inflammatory bowel disease. Nat Genet 2004;36:476–480.
13.
Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Oene MV, Cescon D, Greenberg G, Griffiths AM, St George-Hyslop PH, Siminovitch KA: Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet 2004;36:471–475.
14.
Valentonyte R, Hampe J, Huse K, Rosenstiel P, Albrecht M, Stenzel A, Nagy M, Haesler R, Gaede KI, Platzer M, Franke A, Lengauer T, Seegert D, Schwinger E, Krawczak M, Müller-Quernheim J, Schürmann M, Schreiber S: Sarcoidosis is associated with a truncating splice site mutation in BTNL2. Nat Genet 2005;37:357-364.
15.
Van Eerdewegh P, Little RD, Dupuis J, Del Mastro RG, Falls K, Simon J, Torrey D, Pandit S, McKenny J, Braunschweiger K, Walsh A, Liu Z, Hayward B, Folz C, Manning SP, Bawa A, Saracino L, Thackston M, Benchekroun Y, Capparell N, Wang M, Adair R, Feng Y, Dubois J, FitzGerald MG, Huang H, Gibson R, Allen KM, Pedan A, Danzig MR, Umland SP, Egan RW, Cuss FM, Rorke S, Clough JB, Holloway JW, Holgate ST, Keith TP: Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 2002;418:426–430.
16.
Oguma T, Palmer LJ, Birben E, Sonna LA, Asano K, Lilly CM: Role of prostanoid DP receptor variants in susceptibility to asthma. N Engl J Med 2004;351:1752–1763.
17.
Nicolae D, Cox NJ, Lester LA, Schneider D, Tan Z, Billstrand C, Kuldanek S, Donfack J, Kogut P, Patel NM, Goodenbour J, Howard T, Wolf R, Koppelman GH, White SR, Parry R, Postma DS, Meyers D, Bleecker ER, Hunt JS, Solway J, Ober C: Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21. Am J Hum Genet 2005;76:349–357.
© 2006 S. Karger AG, Basel
2006
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