STrengthening the REporting of Genetic Association studies (STREGA) – an extension of the STROBE statement

European Journal of Clinical Investigation - Tập 39 Số 4 - Trang 247-266 - 2009
Julian Little1,2, Julian P. T. Higgins3, John P. A. Ioannidis4,5, David Moher2, France Gagnon6, Erik von Elm7,8, Muin J. Khoury9, Barbara Cohen10, George Davey Smith11, Jeremy Grimshaw2, Paul Scheet12, Marta Gwinn9, Robin E. Williamson13, Guangyong Zou14,15, Kim Hutchings2, Candice Y. Johnson2, Valerie Tait2, Miriam Wiens2, Jean Golding16, Cornelia M. van Duijn17, John McLaughlin18,19, Andrew D. Paterson20, George A. Wells21, Isabel Fortier22, Matthew L. Freedman23, Maja Zečević24, Richard King25, Claire Infante‐Rivard26, Alexandre F.R. Stewart21, Nick Birkett2
1Canada Research Chair in Human Genome Epidemiology, Ottawa, ON, Canada
2University of Ottawa, Ottawa, ON, Canada
3MRC Biostatistics Unit, Cambridge, UK
4Tufts University School of Medicine, Boston, MA, USA.
5University of Ioannina, Ioannina, Greece
6University of Toronto, Toronto, ON, Canada
7University Medical Centre, Freiburg, Germany
8University of Bern, Bern, Switzerland
9National Office of Public Health Genomics, Atlanta, GA, USA
10Public Library of Science, San Francisco, CA, USA
11University of Bristol, Bristol, UK
12University of Texas/MD Anderson Cancer Center, Houston, TX USA
13American Journal of Human Genetics, Boston, MA, USA
14Robarts Research Institute, London, Ottawa, ON, Canada
15University of Western Ontario
16Paediatric and Perinatal Epidemiology, Bristol, UK
17European Journal of Epidemiology, Rotterdam, The Netherlands
18Cancer Care Ontario
19Prosserman Centre for Health Research at the Samuel Lunenfeld Research Institute, Toronto, ON, Canada
20Canada Research Chair in Genetics of Complex Diseases, Toronto, ON, Canada
21University of Ottawa Heart Institute, Ottawa, ON, Canada
22McGill University and Genome Quebec Innovation Center, Montreal, QC, Canada
23Dana-Farber Cancer Institute, Boston, MA, USA
24Lancet, New York, New York, USA
25Genetics in Medicine, Minneapolis, MN, USA
26McGill University, Montreal, QC, Canada

Tóm tắt

AbstractMaking sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the STrengthening the Reporting of OBservational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy–Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed, but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct or analysis.

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European Journal of Clinical Investigation

Tập 39 Số 4

247-266

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