Assessment of cumulative evidence on genetic associations: interim guidelines

被引：465

作者：

Ioannidis, John P.A. ^{[1
,2
,3
]}

Boffetta, Paolo ^{[4
]}

Little, Julian ^{[5
]}

O'Brien, Thomas R. ^{[6
]}

Uitterlinden, Andre G. ^{[7
]}

Vineis, Paolo ^{[8
]}

Balding, David J. ^{[8
]}

Chokkalingam, Anand ^{[9
]}

Dolan, Siobhan M. ^{[10
]}

Flanders, W. Dana ^{[11
]}

Higgins, Julian P. T. ^{[12
]}

McCarthy, Mark I. ^{[13
,14
]}

McDermott, David H. ^{[15
]}

Page, Grier P. ^{[16
]}

Rebbeck, Timothy R. ^{[17
]}

Seminara, Daniela ^{[18
]}

Khoury, Muin J. ^{[19
]}

机构：

[1] Univ Ioannina, Sch Med, Clin & Mol Epidemiol Unit, Ioannina 45110, Greece

[2] Fdn Res Technol, Biomed Res Inst, Ioannina 45110, Greece

[3] Tufts Univ, Sch Med, Dept Med, Boston, MA 02111 USA

[4] Int Agcy Res Canc, F-69008 Lyon, France

[5] Univ Ottawa, Dept Epidemiol & Commun Med, Ottawa, ON K1H 8M5, Canada

[6] NIH, Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USA

[7] Erasmus MC, Dept Internal Med, Dept Epidemiol & Biostat, NL-3000 CA Rotterdam, Netherlands

[8] Imperial Coll, Dept Epidemiol & Publ Hlth, London W2 1PG, England

[9] Univ Calif Berkeley, Sch Publ Hlth, Berkeley, CA 94707 USA

[10] Montefiore Med Ctr, Albert Einstein Coll Med, Dept Obstet & Gynecol & Womens Hlth, Bronx, NY 10461 USA

[11] Emory Univ, Rollins Sch Publ Hlth, Dept Epidemiol, Atlanta, GA 30327 USA

[12] Univ Forvie Site, Inst Publ Hlth, MRC Biostat Unit, Cambridge CB2 0SR, England

[13] Univ Oxford, Oxford Ctr Diabet, Oxford OX3 7LJ, England

[14] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BM, England

[15] NIH, Natl Inst Allergy & Infect Dis, Lab Mol Immunol, Bethesda, MD 20892 USA

[16] Univ Alabama Birmingham, Sch Publ Hlth, Dept Biostat, Birmingham, AL 35294 USA

[17] Univ Penn, Sch Med, Dept Biostat & Epidemiol, Philadelphia, PA 19104 USA

[18] NIH, Natl Canc Inst, Div Canc Control & Populat Sci, Epidemiol & Genet Res Program, Bethesda, MD 20892 USA

[19] Ctr Dis Control & Prevent, Natl Off Publ Hlth Genom, Atlanta, GA USA

来源：

INTERNATIONAL JOURNAL OF EPIDEMIOLOGY | 2008年 / 37卷 / 01期

基金：

英国医学研究理事会;

关键词：

epidemiologic methods; genetics; genomics; causality; evidence;

D O I：

10.1093/ije/dym159

中图分类号：

R1 [预防医学、卫生学];

学科分类号：

1004 ; 120402 ;

摘要：

Established guidelines for causal inference in epidemiological studies may be inappropriate for genetic associations. A consensus process was used to develop guidance criteria for assessing cumulative epidemiologic evidence in genetic associations. A proposed semi-quantitative index assigns three levels for the amount of evidence, extent of replication, and protection from bias, and also generates a composite assessment of strong, moderate or weak epidemiological credibility. In addition, we discuss how additional input and guidance can be derived from biological data. Future empirical research and consensus development are needed to develop an integrated model for combining epidemiological and biological evidence in the rapidly evolving field of investigation of genetic factors.

引用

页码：120 / 132

页数：13

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