Literature DB >> 16490960

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

Michael Krawczak1, Susanna Nikolaus, Huberta von Eberstein, Peter J P Croucher, Nour Eddine El Mokhtari, Stefan Schreiber.   

Abstract

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. Copyright (c) 2006 S. Karger AG, Basel.

Entities:  

Mesh:

Year:  2006        PMID: 16490960     DOI: 10.1159/000090694

Source DB:  PubMed          Journal:  Community Genet        ISSN: 1422-2795


  136 in total

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Authors:  Wigdan Al-Sukhni; Sarah Joe; Anath C Lionel; Nora Zwingerman; George Zogopoulos; Christian R Marshall; Ayelet Borgida; Spring Holter; Aaron Gropper; Sara Moore; Melissa Bondy; Alison P Klein; Gloria M Petersen; Kari G Rabe; Ann G Schwartz; Sapna Syngal; Stephen W Scherer; Steven Gallinger
Journal:  Hum Genet       Date:  2012-06-05       Impact factor: 4.132

2.  CEACAM1 regulates TIM-3-mediated tolerance and exhaustion.

Authors:  Yu-Hwa Huang; Chen Zhu; Yasuyuki Kondo; Ana C Anderson; Amit Gandhi; Andrew Russell; Stephanie K Dougan; Britt-Sabina Petersen; Espen Melum; Thomas Pertel; Kiera L Clayton; Monika Raab; Qiang Chen; Nicole Beauchemin; Paul J Yazaki; Michal Pyzik; Mario A Ostrowski; Jonathan N Glickman; Christopher E Rudd; Hidde L Ploegh; Andre Franke; Gregory A Petsko; Vijay K Kuchroo; Richard S Blumberg
Journal:  Nature       Date:  2014-10-26       Impact factor: 49.962

3.  Severe intellectual disability and autistic features associated with microduplication 2q23.1.

Authors:  Brian H Y Chung; Sureni Mullegama; Christian R Marshall; Anath C Lionel; Rosanna Weksberg; Lucie Dupuis; Lauren Brick; Chumei Li; Stephen W Scherer; Swaroop Aradhya; D James Stavropoulos; Sarah H Elsea; Roberto Mendoza-Londono
Journal:  Eur J Hum Genet       Date:  2011-11-16       Impact factor: 4.246

4.  Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor.

Authors:  Sandra Thier; Delia Lorenz; Michael Nothnagel; Caroline Poremba; Frank Papengut; Silke Appenzeller; Steffen Paschen; Frank Hofschulte; Anna-Christina Hussl; Sascha Hering; Werner Poewe; Friedrich Asmus; Thomas Gasser; Ludger Schöls; Kaare Christensen; Almut Nebel; Stefan Schreiber; Stephan Klebe; Günther Deuschl; Gregor Kuhlenbäumer
Journal:  Neurology       Date:  2012-07-03       Impact factor: 9.910

5.  Securing the use of existing sample collections for future human genetic research.

Authors:  George Kanoungi; Peter Nürnberg; Michael Nothnagel
Journal:  Eur J Hum Genet       Date:  2017-02-01       Impact factor: 4.246

6.  Structural variation of chromosomes in autism spectrum disorder.

Authors:  Christian R Marshall; Abdul Noor; John B Vincent; Anath C Lionel; Lars Feuk; Jennifer Skaug; Mary Shago; Rainald Moessner; Dalila Pinto; Yan Ren; Bhooma Thiruvahindrapduram; Andreas Fiebig; Stefan Schreiber; Jan Friedman; Cees E J Ketelaars; Yvonne J Vos; Can Ficicioglu; Susan Kirkpatrick; Rob Nicolson; Leon Sloman; Anne Summers; Clare A Gibbons; Ahmad Teebi; David Chitayat; Rosanna Weksberg; Ann Thompson; Cathy Vardy; Vicki Crosbie; Sandra Luscombe; Rebecca Baatjes; Lonnie Zwaigenbaum; Wendy Roberts; Bridget Fernandez; Peter Szatmari; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2008-01-17       Impact factor: 11.025

7.  On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.

Authors:  Diana Luca; Steven Ringquist; Lambertus Klei; Ann B Lee; Christian Gieger; H-Erich Wichmann; Stefan Schreiber; Michael Krawczak; Ying Lu; Alexis Styche; Bernie Devlin; Kathryn Roeder; Massimo Trucco
Journal:  Am J Hum Genet       Date:  2008-01-24       Impact factor: 11.025

8.  A comprehensive evaluation of SNP genotype imputation.

Authors:  Michael Nothnagel; David Ellinghaus; Stefan Schreiber; Michael Krawczak; Andre Franke
Journal:  Hum Genet       Date:  2008-12-17       Impact factor: 4.132

9.  Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease.

Authors:  David-Alexandre Trégouët; Inke R König; Jeanette Erdmann; Alexandru Munteanu; Peter S Braund; Alistair S Hall; Anika Grosshennig; Patrick Linsel-Nitschke; Claire Perret; Maylis DeSuremain; Thomas Meitinger; Ben J Wright; Michael Preuss; Anthony J Balmforth; Stephen G Ball; Christa Meisinger; Cécile Germain; Alun Evans; Dominique Arveiler; Gérald Luc; Jean-Bernard Ruidavets; Caroline Morrison; Pim van der Harst; Stefan Schreiber; Katharina Neureuther; Arne Schäfer; Peter Bugert; Nour E El Mokhtari; Jürgen Schrezenmeir; Klaus Stark; Diana Rubin; H-Erich Wichmann; Christian Hengstenberg; Willem Ouwehand; Andreas Ziegler; Laurence Tiret; John R Thompson; Francois Cambien; Heribert Schunkert; Nilesh J Samani
Journal:  Nat Genet       Date:  2009-02-08       Impact factor: 38.330

10.  Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

Authors:  Gilles Maussion; Cristiana Cruceanu; Jill A Rosenfeld; Scott C Bell; Fabrice Jollant; Jin Szatkiewicz; Ryan L Collins; Carrie Hanscom; Ilaria Kolobova; Nicolas Menjot de Champfleur; Ian Blumenthal; Colby Chiang; Vanessa Ota; Christina Hultman; Colm O'Dushlaine; Steve McCarroll; Martin Alda; Sebastien Jacquemont; Zehra Ordulu; Christian R Marshall; Melissa T Carter; Lisa G Shaffer; Pamela Sklar; Santhosh Girirajan; Cynthia C Morton; James F Gusella; Gustavo Turecki; Dimitri J Stavropoulos; Patrick F Sullivan; Stephen W Scherer; Michael E Talkowski; Carl Ernst
Journal:  Am J Med Genet A       Date:  2016-10-19       Impact factor: 2.802

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