STrengthening the REporting of Genetic Association Studies (STREGA) - An Extension of the STROBE Statement

被引:413
作者
Little, Julian [1 ,2 ]
Higgins, Julian P. T. [3 ]
Ioannidis, John P. A. [4 ,5 ]
Moher, David [2 ]
Gagnon, France [6 ]
von Elm, Erik [7 ,8 ]
Khoury, Muin J. [9 ]
Cohen, Barbara [10 ]
Davey-Smith, George [11 ]
Grimshaw, Jeremy [12 ]
Scheet, Paul [13 ]
Gwinn, Marta [9 ]
Williamson, Robin E. [14 ]
Zou, Guang Yong [15 ,16 ]
Hutchings, Kim [2 ]
Johnson, Candice Y. [2 ]
Tait, Valerie [2 ]
Wiens, Miriam [2 ]
Golding, Jean [27 ]
van Duijn, Cornelia [17 ]
McLaughlin, John [18 ,19 ]
Paterson, Andrew [20 ]
Wells, George [21 ]
Fortier, Isabel [22 ,23 ]
Freedman, Matthew [24 ]
Zecevic, Maja [25 ]
King, Richard [26 ,28 ]
Infante-Rivard, Claire [28 ]
Stewart, Alex F. R.
Birkett, Nick [2 ]
机构
[1] Univ Ottawa, Canada Res Chair Human Genome Epidemiol, Ottawa, ON, Canada
[2] Univ Ottawa, Dept Epidemiol & Community Med, Ottawa, ON, Canada
[3] MRC, Biostat Unit, Cambridge CB2 2BW, England
[4] Univ Ioannina, Sch Med, Dept Hyg & Epidemiol, GR-45110 Ioannina, Greece
[5] Tufts Univ, Sch Med, Ctr Genet Epidemiol & Modeling, Boston, MA 02111 USA
[6] Univ Toronto, Dalla Lana Sch Publ Hlth, Toronto, ON, Canada
[7] Univ Bern, Inst Social & Prevent Med, Bern, Switzerland
[8] Univ Med Ctr, Dept Med Biometry & Med Informat, German Cochrane Ctr, Freiburg, Germany
[9] Ctr Dis Control & Prevent, Natl Off Publ Hlth Genom, Atlanta, GA USA
[10] Publ Lib Sci, San Francisco, CA USA
[11] Univ Bristol, Dept Social Med, MRC, Ctr Causal Analyses Translat Epidemiol, Bristol, Avon, England
[12] Univ Ottawa, Dept Med, Ottawa Hlth Res Inst, Clin Epidemiol Program, Ottawa, ON, Canada
[13] Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USA
[14] Amer Journal Human Genet, Boston, MA USA
[15] Univ Western Ontario, Dept Epidemiol & Biostat, London, ON, Canada
[16] Robarts Res Inst, London, ON N6A 5C1, Canada
[17] European Journal Epidemiol, Rotterdam, Netherlands
[18] Canc Care Ontario, Toronto, ON, Canada
[19] Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Prosserman Ctr Hlth Res, Toronto, ON M5G 1X5, Canada
[20] Hosp Sick Children SickKids, Canada Res Chair Genet Complex Dis, Toronto, ON, Canada
[21] Univ Ottawa, Inst Heart, Cardiovasc Res Methods Ctr, Ottawa, ON, Canada
[22] McGill Univ, Genome Quebec & P3G Observ, Montreal, PQ, Canada
[23] Genome Quebec Innovat Ctr, Montreal, PQ, Canada
[24] Dana Farber Canc Inst, Boston, MA 02115 USA
[25] The Lancet, New York, NY USA
[26] Genet Med, Minneapolis, MN USA
[27] Paediat & Perinatal Epidemiol, Bristol, Avon, England
[28] McGill Univ, Fac Med, Dept Epidemiol Biostatist & Occupat Hlth, Montreal, PQ, Canada
关键词
gene-disease associations; genetics; gene-environment interaction; systematic review; meta analysis; reporting recommendations; epidemiology; genome-wide association; GENOME-WIDE ASSOCIATION; HARDY-WEINBERG EQUILIBRIUM; SINGLE-NUCLEOTIDE POLYMORPHISM; POPULATION STRATIFICATION; GENOTYPING ERRORS; RANDOMIZED-TRIALS; PROSTATE-CANCER; LARGE-SCALE; DISEASE ASSOCIATIONS; EMPIRICAL-EVALUATION;
D O I
10.1371/journal.pmed.1000022
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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, 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.
引用
收藏
页码:151 / 163
页数:13
相关论文
共 154 条
[51]   Mendelian proportions in a mixed population [J].
Hardy, GH .
SCIENCE, 1908, 28 :49-50
[52]   Genetic Epidemiology 5 - What makes a good genetic association study? [J].
Hattersley, AT ;
McCarthy, MI .
LANCET, 2005, 366 (9493) :1315-1323
[53]   SNP judgments and freedom of association [J].
Hegele, RA .
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2002, 22 (07) :1058-1061
[54]   A common variant on chromosome 9p21 affects the risk of myocardial infarction [J].
Helgadottir, Anna ;
Thorleifsson, Gudmar ;
Manolescu, Andrei ;
Gretarsdottir, Solveig ;
Blondal, Thorarinn ;
Jonasdottir, Aslaug ;
Jonasdottir, Adalbjorg ;
Sigurdsson, Asgeir ;
Baker, Adam ;
Palsson, Arnar ;
Masson, Gisli ;
Gudbjartsson, Daniel F. ;
Magnusson, Kristinn P. ;
Andersen, Karl ;
Levey, Allan I. ;
Backman, Valgerdur M. ;
Matthiasdottir, Sigurborg ;
Jonsdottir, Thorbjorg ;
Palsson, Stefan ;
Einarsdottir, Helga ;
Gunnarsdottir, Steinunn ;
Gylfason, Arnaldur ;
Vaccarino, Viola ;
Hooper, W. Craig ;
Reilly, Muredach P. ;
Granger, Christopher B. ;
Austin, Harland ;
Rader, Daniel J. ;
Shah, Svati H. ;
Quyyumi, Arshed A. ;
Gulcher, Jeffrey R. ;
Thorgeirsson, Gudmundur ;
Thorsteinsdottir, Unnur ;
Kong, Augustine ;
Stefansson, Kari .
SCIENCE, 2007, 316 (5830) :1491-1493
[55]   Turning the pump handle: Evolving methods for integrating the evidence on gene-disease association [J].
Higgins, Julian P. T. ;
Little, Julian ;
Ioannidis, John P. A. ;
Bray, Molly S. ;
Manolio, Teri A. ;
Smeeth, Liam ;
Sterne, Jonathan A. ;
Anagnostelis, Betsy ;
Butterworth, Adam S. ;
Danesh, John ;
Dezateux, Carol ;
Gallacher, John E. ;
Gwinn, Marta ;
Lewis, Sarah J. ;
Minelli, Cosetta ;
Pharoah, Paul D. ;
Salanti, Georgia ;
Sanderson, Simon ;
Smith, Lesley A. ;
Taioli, Emanuela ;
Thompson, John R. ;
Thompson, Simon G. ;
Walker, Neil ;
Zimmern, Ron L. ;
Khoury, Muin J. .
AMERICAN JOURNAL OF EPIDEMIOLOGY, 2007, 166 (08) :863-866
[56]   Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays [J].
Homer, Nils ;
Szelinger, Szabolcs ;
Redman, Margot ;
Duggan, David ;
Tembe, Waibhav ;
Muehling, Jill ;
Pearson, John V. ;
Stephan, Dietrich A. ;
Nelson, Stanley F. ;
Craig, David W. .
PLOS GENETICS, 2008, 4 (08)
[57]   Detection of genotyping errors by Hardy-Weinberg equilibrium testing [J].
Hosking, L ;
Lumsden, S ;
Lewis, K ;
Yeo, A ;
McCarthy, L ;
Bansal, A ;
Riley, J ;
Purvis, I ;
Xu, CF .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2004, 12 (05) :395-399
[58]   Comparison of strategies for selecting single nucleotide polymorphisms for case/control association studies [J].
Huang, QQ ;
Fu, YX ;
Boerwinkle, E .
HUMAN GENETICS, 2003, 113 (03) :253-257
[59]   Associations, populations, and the truth - Recommendations for genetic association studies in arthritis & rheumatism [J].
Huizinga, TWJ ;
Pisetsky, DS ;
Kimberly, RP .
ARTHRITIS AND RHEUMATISM, 2004, 50 (07) :2066-2071
[60]   A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer [J].
Hunter, David J. ;
Kraft, Peter ;
Jacobs, Kevin B. ;
Cox, David G. ;
Yeager, Meredith ;
Hankinson, Susan E. ;
Wacholder, Sholom ;
Wang, Zhaoming ;
Welch, Robert ;
Hutchinson, Amy ;
Wang, Junwen ;
Yu, Kai ;
Chatterjee, Nilanjan ;
Orr, Nick ;
Willett, Walter C. ;
Colditz, Graham A. ;
Ziegler, Regina G. ;
Berg, Christine D. ;
Buys, Saundra S. ;
McCarty, Catherine A. ;
Feigelson, Heather Spencer ;
Calle, Eugenia E. ;
Thun, Michael J. ;
Hayes, Richard B. ;
Tucker, Margaret ;
Gerhard, Daniela S. ;
Fraumeni, Joseph F., Jr. ;
Hoover, Robert N. ;
Thomas, Gilles ;
Chanock, Stephen J. .
NATURE GENETICS, 2007, 39 (07) :870-874