OPINION Beyond odds - ratios communicating disease risk based on genetic profiles

被引：117

作者：

Kraft, Peter ^{[1
]}

Wacholder, Sholom ^{[2
]}

Cornelis, Marilyn C. ^{[3
]}

Hu, Frank B. ^{[3
]}

Hayes, Richard B. ^{[2
]}

Thomas, Gilles ^{[2
]}

Hoover, Robert ^{[2
]}

Hunter, David J. ^{[1
,2
,3
,4
,5
]}

Chanock, Stephen ^{[2
]}

机构：

[1] Harvard Univ, Program Mol & Genet Epidemiol, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA

[2] NCI, Div Canc Epidemiol & Genet, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA

[3] Harvard Univ, Dept Nutr, Sch Publ Hlth, Boston, MA 02115 USA

[4] Brigham & Womens Hosp, Channing Lab, Boston, MA 02115 USA

[5] Harvard Univ, Sch Med, Boston, MA 02115 USA

来源：

NATURE REVIEWS GENETICS | 2009年 / 10卷 / 04期

基金：

美国国家卫生研究院;

关键词：

GENOME-WIDE ASSOCIATION; OPERATING CHARACTERISTIC CURVE; PROSTATE-CANCER; ATTRIBUTABLE RISK; BREAST-CANCER; LOCI; PREVENTION; FINASTERIDE; LIMITATIONS; PREDICTION;

D O I：

10.1038/nrg2516

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The brisk discovery of novel inherited disease markers by genome-wide association (GWA) studies has raised expectations for predicting disease risk by analysing multiple common alleles. However, the statistics used during the discovery phase of research (such as odds ratios or p values for association) are not the most appropriate measures for evaluating the predictive value of genetic profiles. We argue that other measures - such as sensitivity, specificity, and positive and negative predictive values - are more useful when proposing a genetic profile for risk prediction.

引用

页码：264 / 269

页数：6

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