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

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, 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.

Từ khóa


Tài liệu tham khảo

Khoury MJ, 2004, Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease, 3

Genomics, Health and Society Working Group, 2004, Genomics, Health and Society. Emerging Issues for Public Policy

10.1093/aje/kwj175

Yu Y, 2008, HuGE Literature Finder

10.1098/rstb.2005.1689

10.1158/1055-9965.EPI-06-0146

10.1093/ije/dyl253

10.1093/aje/kwg048

10.1093/aje/kwi201

10.1038/ng0106-3

10.1136/bmj.329.7471.868

10.1038/8702

10.1038/35052543

10.1164/ajrccm.164.11.2110043b

10.1038/sj.tpj.6500050

10.1007/s00439-001-0672-4

10.1161/01.ATV.0000026801.56080.14

10.1093/oxfordjournals.aje.a000179

10.1067/mob.2002.128319

10.1016/S0140-6736(03)12715-8

10.1023/A:1023773411903

10.1136/hrt.2003.022871

10.1002/art.20360

Little J, 2004, Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease, 168

Rebbeck TR, 2004, Genetic variation and cancer: improving the environment for publication of association studies, Cancer Epidemiol Biomarkers Prev, 13, 1985, 10.1158/1055-9965.1985.13.12

10.1111/j.0013-9580.2004.22904.x

Anonymous, 2005, Framework for a fully powered risk engine, Nat Genet, 37

10.1093/hmg/ddi252

10.1093/hmg/ddi251

10.1016/S0140-6736(05)67531-9

10.1007/s00251-005-0025-x

10.1359/JBMR.041129

10.1097/01.PCC.0000161572.12676.91

10.1136/thx.2005.043802

10.1136/thx.2005.040790

10.1002/ajmg.b.30321

10.1111/j.1572-0241.2006.00587.x

10.1053/j.ajkd.2006.10.012

10.1038/447655a

10.1158/1055-9965.EPI-05-0407

10.1158/1055-9965.EPI-05-0406

10.1158/1055-9965.EPI-05-0405

10.1158/1055-9965.EPI-05-0404

10.1158/1055-9965.EPI-05-0403

10.1001/jama.281.20.1919

10.1097/01.CCM.0000065190.24116.A4

10.1007/s00134-006-0327-y

10.1192/bjp.bp.106.027250

10.1186/1471-2288-8-31

10.1001/jama.1995.03530080061042

Brazma A, 2001, Minimum information about a microarray experiment (MIAME) – Toward standards for microarray data, Nat Genet, 29, 356, 10.1038/ng1201-365

10.1136/bmj.38250.571088.55

10.1016/S0025-7753(05)72203-X

10.1093/aje/kwj069

10.1371/journal.pmed.0040296

10.7326/0003-4819-147-8-200710160-00010-w1

Little J, 2006, The HuGENet™ HuGE Review Handbook, version 1.0

10.1093/aje/kwm248

10.7326/0003-4819-134-8-200104170-00012

10.1001/jama.285.15.1987

10.1038/nrg1707

10.1086/320607

10.1038/35088588

10.1086/368203

Rothman N, 1993, Misclassification of genetic susceptibility biomarkers: implications for case‐control studies and cross‐population comparisons, Cancer Epidemiol Biomarkers Prev, 2, 299

Garcia‐Closas M, 2004, Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease, 127

10.1002/sim.1662

10.1038/ng1653

Knowler WC, 1988, Gm3;5,13,14 and type 2 diabetes mellitus: an association in American Indians with genetic admixture, Am J Human Genet, 43, 520

Gelernter J, 1993, The A1 allele at the D2 dopamine receptor gene and alcoholism: a reappraisal, JAMA, 269, 1673, 10.1001/jama.1993.03500130087038

10.1007/s00439-002-0731-5

Thomas DC, 2002, Point: population stratification: a problem for case control studies of candidate‐gene associations?, Cancer Epidemiol Biomarkers Prev, 11, 505

Wacholder S, 2002, Joint effects of genes and environment distorted by selection biases: implications for hospital‐based case‐control studies, Cancer Epidemiol Biomarkers Prev, 11, 885

10.1016/S0140-6736(03)12520-2

10.1093/jnci/92.14.1151

10.1086/341719

10.1002/sim.1706

10.1093/jnci/93.2.156

10.1002/gepi.20003

10.1111/j.1399-0039.1992.tb01922.x

10.1038/ng1337

10.1038/ng1333

Khlat M, 2004, Robustness of case‐control studies of genetic factors to population stratification: magnitude of bias and type I error, Cancer Epidemiol Biomarkers Prev, 13, 1660, 10.1158/1055-9965.1660.13.10

10.1038/nrg1916

10.1038/nature05911

10.1159/000103512

10.1038/ng2061

10.1038/ng2068

10.1126/science.1142364

10.1126/science.1142358

10.1126/science.1142382

10.1126/science.1142842

10.1126/science.1142447

10.1038/nature05887

10.1038/ng2075

10.1038/ng2064

10.1038/ng2062

10.1038/ng2015

10.1038/ng2022

10.1038/ng2089

10.1038/ng2085

10.1038/ng2098

10.1038/ng2032

10.1371/journal.pgen.0030058

10.1126/science.1135245

10.1086/375140

10.1038/nature06258

10.1086/319501

10.1086/344207

10.1086/502802

10.1007/s00439-008-0568-7

10.1007/s00439-003-0965-x

10.1086/422853

10.1007/s00439-004-1122-x

10.1086/381000

10.1038/sj.ejhg.5201183

10.1089/1066527041410300

10.1073/pnas.0404730102

10.1016/S0168-9525(03)00022-2

10.1093/hmg/ddh060

10.1371/journal.pgen.0030114

10.1038/ng2088

10.1126/science.28.706.49

Weinberg W, 1908, Über den nachweis der vererbung beim menschen, Jahrhefte Des Vereines Für Vaterländische Naturkunde in Württemberg, 64, 368

10.1093/ije/dym234

10.1007/s00439-002-0819-y

10.1038/sj.ejhg.5201164

10.1038/sj.ejhg.5201410

10.1001/jama.299.11.1335

10.1038/nrg2344

10.1111/j.1469-1809.2006.00267.x

Shoemaker J, 1998, A Bayesian characterization of Hardy–Weinberg disequilibrium, Genetics, 149, 2079, 10.1093/genetics/149.4.2079

10.1046/j.1365-2540.1998.00360.x

10.1093/aje/kwj046

10.7326/0003-4819-149-9-200811040-00009

Steinberg K, 2004, Human Genome epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease, 79

10.1371/journal.pgen.0030074

10.1111/j.1748-720X.2006.00065.x

10.1371/journal.pgen.0030115

10.1001/jama.291.20.2457

10.1503/cmaj.1041086

10.1136/bmj.38356.424606.8F

10.1097/01.fpc.0000236332.11304.8f

10.1006/geno.2002.6748

10.1093/nar/30.1.169

10.1093/nar/29.1.308

10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O

10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N

10.1002/sim.2165

10.1111/j.1095-8312.1999.tb01157.x

10.1086/320608

10.1371/journal.pgen.0010032

10.1371/journal.pgen.1000167

10.1126/science.1165490