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Heid, I.M. ; Lamina, C. ; Küchenhoff, H.* ; Fischer, G. ; Klopp, N. ; Kolz, M. ; Grallert, H. ; Vollmert, C. ; Wagner, S. ; Huth, C. ; Müller, J.* ; Müller, M. ; Hunt, S.C.* ; Peters, A. ; Paulweber, B.* ; Wichmann, H.-E. ; Kronenberg, F.* ; Illig, T.

Estimating the Single Nucleotide Polymorphism Genotype Misclassification From Routine Double Measurements in a Large Epidemiologic Sample.

Am. J. Epidemiol. 168, 878-889 (2008)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
Previously, estimation of genotype misclassification of single nucleotide polymorphisms (SNPs) as encountered in epidemiologic practice and involving thousands of subjects was lacking. The authors collected representative data on approximately 14,000 subjects from 8 studies and 646,558 genotypes assessed in 2005 by means of matrix-assisted laser desorption ionization time-of-flight mass spectrometry. Overall discordance among 57,805 double genotypes from routine quality control was 0.36%. Fitting different misclassification models by maximum likelihood assuming identical misclassification for all SNPs, the estimated misclassification probabilities ranged from 0.0000 to 0.0035. When applying the misclassification simulation and extrapolation (MC-SIMEX) method for the first time to genetic data to account for the misclassification in a reanalysis of adiponectin-encoding (APM1) gene SNP associations with plasma adiponectin in 1,770 subjects, the authors found no impact of this small error on association estimates but increased estimates for a more substantial error. This study is the first to provide large-scale epidemiologic data on SNP genotype misclassification. The estimated misclassification in this example was small and negligible for association estimates, which is reassuring and essential for detecting SNP associations. In situations with more substantial error, the presented approach using duplicate genotyping and the MC-SIMEX method is practical and helpful for quantifying the genotyping error and its impact.
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Publication type Article: Journal article
Document type Scientific Article
Keywords bias (epidemiology); genetics; genotype; likelihood functions; polymorphism; single nucleotide
Language
Publication Year 2008
HGF-reported in Year 2008
ISSN (print) / ISBN 0002-9262
e-ISSN 1476-6256
Journal American Journal of Epidemiology
Quellenangaben Volume: 168, Issue: 8, Pages: 878-889 Article Number: , Supplement: ,
Publisher Oxford University Press
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)
POF-Topic(s) 30503 - Chronic Diseases of the Lung and Allergies
Research field(s) Genetics and Epidemiology
PSP Element(s) G-503900-001
DOI 10.1093/aje/kwn208
Scopus ID 53749088195
Erfassungsdatum 2008-12-19
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