Single nucleotide polymorphism--disease relationships: statistical issues for the performance of association studies.
There is increasing concern about the low reproducibility of findings of genetic association studies in complex diseases. In the present paper, we argue that it might be beneficial to learn from epidemiology and the methodology for clinical trials which address problems also crucial for genetic association studies. We propose a two-step sequential approach in order to (a) allow a study--internal control of reproducibility and (b) stop a study or lab analysis prematurely to save valuable specimen, time and costs. Additionally, minimal information is proposed which should be presented in publications about association studies in order to facilitate reproducibility studies by other authors.
Becker
Nikolaus
N
Deutsches Krebsforschungszentrum, Division of Clinical Epidemiology, Im Neuenheimer Feld 280, Heidelberg 69120, Germany. n.becker@dkfz.de
Nieters
Alexandra
A
Rittgen
Werner
W
D016022:Case-Control Studies; D016001:Confidence Intervals; D003627:Data Interpretation, Statistical; D004194:Disease / Q000209:etiology; D004812:Epidemiologic Methods; D020022:Genetic Predisposition to Disease; D006801:Humans; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D012306:Risk