The Impact of Diagnosis Error on Testing Genetic Association in Case-control Studies

• Activity Number: 184
• Type: Topic Contributed
• Date/Time: Tuesday, August 10, 2004 : 8:30 AM to 10:20 AM
• Sponsor: Section on Statistics in Epidemiology
• Author(s): Gang Zheng*+ and Xin Tian
• Companies: National Heart, Lung, and Blood Institute and National Heart, Lung, and Blood Institute
• Keywords: case-control study ; diagnosis error ; power ; sample size ; sensitivity ; specificity

Abstract

In case-control studies, subjects in the case group may be recruited from suspected patients who are diagnosed positively with disease. While many statistical methods have been developed for measurement error or misclassification of exposure variables in epidemiological studies, no studies have been reported on the effect of errors in diagnosing disease on testing genetic association in case-control studies. We study the impact of using the original Cochran-Armitage trend test assuming no diagnosis error when, in fact, cases and controls may be clinically diagnosed by an imperfect gold standard or a reference test. The Type I error, sample size, and asymptotic power of trend tests are examined under a family of genetic models in the presence of diagnosis error. The empirical powers of the trend tests are also compared by simulation studies under various genetic models.