SpringerLink - Journal Article

Genetic epidemiology

Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE statement

Julian Little^{1, 2}, Julian P. T. Higgins³, John P. A. Ioannidis^{4, 5}, David Moher², France Gagnon⁶, Erik von Elm^{7, 8}, Muin J. Khoury⁹, Barbara Cohen¹⁰, George Davey-Smith¹¹, Jeremy Grimshaw¹², Paul Scheet¹³, Marta Gwinn⁹, Robin E. Williamson¹⁴, Guang Yong Zou^{15, 16}, Kim Hutchings², Candice Y. Johnson², Valerie Tait², Miriam Wiens², Jean Golding¹⁷, Cornelia van Duijn¹⁸, John McLaughlin^{19, 20}, Andrew Paterson²¹, George Wells²², Isabel Fortier²³, Matthew Freedman²⁴, Maja Zecevic²⁵, Richard King²⁶, Claire Infante-Rivard²⁷, Alex Stewart²⁸ and Nick Birkett²

(1)	Canada Research Chair in Human Genome Epidemiology, Toronto, ON, Canada

(2)	Department of Epidemiology and Community Medicine, University of Ottawa, 451 Smyth Rd., Ottawa, ON, K1H 8M5, Canada

(3)	MRC Biostatistics Unit, Cambridge, UK

(4)	Department of Hygiene and Epidemiology, School of Medicine, University of Ioannina, Ioannina, 45110, Greece

(5)	Center for Genetic Epidemiology and Modeling, Tufts University School of Medicine, Boston, MA 02111, USA

(6)	CIHR New Investigator and Canada Research Chair in Genetic Epidemiology, University of Toronto, Dalla Lana School of Public Health, 155 College Street, Toronto, ON, M5T 3M7, Canada

(7)	Institute of Social and Preventive Medicine, University of Bern, Finkenhubelweg 11, 3012 Bern, Switzerland

(8)	German Cochrane Centre, Department of Medical Biometry and Medical Informatics, University Medical Centre, Freiburg, Germany

(9)	National Office of Public Health Genomics, Centers for Disease Control & Prevention, Atlanta, GA, USA

(10)	Public Library of Science, San Francisco, CA, USA

(11)	MRC Centre for Causal Analyses in Translational Epidemiology, Department of Social Medicine, University of Bristol, Bristol, UK

(12)	Canada Research Chair in Health Knowledge Transfer and Uptake, Clinical Epidemiology Program, Ottawa Health Research Institute, Department of Medicine, University of Ottawa, Ottawa, ON, Canada

(13)	Department of Epidemiology, University of Texas, MD Anderson Cancer Center, 1155 Pressler Blvd. Unit 1340, Houston, TX 77030, USA

(14)	77 Avenue Louis Pasteur, NRB160C, Boston, MA 02115, USA

(15)	Department of Epidemiology and Biostatistics, University of Western Ontario, London, ON, Canada

(16)	Robarts Clinical Trials, Robarts Research Institute, London, ON, Canada

(17)	Bristol, UK

(18)	Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands

(19)	Cancer Care Ontario, Toronto, ON, Canada

(20)	Prosserman Centre for Health Research at the Samuel Lunenfeld Research Institute, Toronto, ON, Canada

(21)	Canada Research Chair in Genetics of Complex Diseases, Hospital for Sick Children (SickKids), Toronto, ON, Canada

(22)	Director, Cardiovascular Research Methods Centre, University of Ottawa Heart Institute, Ottawa, ON, Canada

(23)	Genome Quebec & P3G Observatory, McGill University and Genome Quebec Innovation Center, 740 av. Docteur Penfield, Montréal, QC, H3A 1A4, Canada

(24)	Dana-Farber Cancer Institute, Boston, MA, USA

(25)	New York, NY, USA

(26)	Minneapolis, MN, USA

(27)	Canada Research Chair-James McGill Professor Department of Epidemiology, Biostatistics and Occupational Health Faculty of Medicine, McGill University, Montreal, QC, Canada

(28)	University of Ottawa Heart Institute, 40 Ruskin Street, Rm. H3100, Ottawa, ON, K1Y 4W7, Canada

Received: 8 March 2008 Accepted: 4 November 2008 Published online: 3 February 2009

Abstract Making 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, modeling 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.

Keywords Gene–disease associations - Genetics - Gene–environment interaction - Systematic review - Meta analysis - Reporting recommendations - Epidemiology - Genome-wide association

Grant support: By the Institutes of Genetics and of Nutrition, Metabolism and Diabetes, Canadian Institutes of Health Research; Genome Canada; Biotechnology, Genomics and Population Health Branch, Public Health Agency of Canada; Affymetrix; DNA Genotek; TrialStat!; and GeneSens. The funders had no role in the decision to submit the article or in its preparation.

In order to encourage dissemination of the STREGA Statement, this article has also been published by Annals of Internal Medicine, European Journal of Clinical Investigation, Genetic Epidemiology, Human Genetics, Journal of Clinical Epidemiology, and PLoS Medicine. The article is placed in the public domain and can be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose.

Julian Little
Email: jlittle@uottawa.ca

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