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The impact of diagnostic error on testing genetic association in case–control studies
Author(s) -
Zheng Gang,
Tian Xin
Publication year - 2004
Publication title -
statistics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.996
H-Index - 183
eISSN - 1097-0258
pISSN - 0277-6715
DOI - 10.1002/sim.1976
Subject(s) - type i and type ii errors , sample size determination , statistics , standard error , gold standard (test) , genetic association , medicine , multiple comparisons problem , statistical power , epidemiology , mathematics , biology , genetics , genotype , single nucleotide polymorphism , gene
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 diagnostic 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 diagnostic error. The empirical powers of the trend tests are also compared by simulation studies under various genetic models. Published in 2004 by John Wiley & Sons, Ltd.