Replication validity of genetic association studies

dc.contributor.authorIoannidis, J. P.en
dc.contributor.authorNtzani, E. E.en
dc.contributor.authorTrikalinos, T. A.en
dc.contributor.authorContopoulos-Ioannidis, D. G.en
dc.date.accessioned2015-11-24T18:54:12Z
dc.date.available2015-11-24T18:54:12Z
dc.identifier.issn1061-4036-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/18656
dc.rightsDefault Licence-
dc.subjectBias (Epidemiology)en
dc.subjectChromosome Mapping/*methods/statistics & numerical dataen
dc.subject*Diseaseen
dc.subjectGenetic Linkage/geneticsen
dc.subjectGenetic Markers/geneticsen
dc.subjectGenetic Predisposition to Disease/*geneticsen
dc.subjectGenetic Variation/geneticsen
dc.subjectHumansen
dc.subjectMeta-Analysis as Topicen
dc.subjectOdds Ratioen
dc.subjectPolymorphism, Genetic/geneticsen
dc.subjectRegression Analysisen
dc.subjectReproducibility of Resultsen
dc.titleReplication validity of genetic association studiesen
heal.abstractThe rapid growth of human genetics creates countless opportunities for studies of disease association. Given the number of potentially identifiable genetic markers and the multitude of clinical outcomes to which these may be linked, the testing and validation of statistical hypotheses in genetic epidemiology is a task of unprecedented scale. Meta-analysis provides a quantitative approach for combining the results of various studies on the same topic, and for estimating and explaining their diversity. Here, we have evaluated by meta-analysis 370 studies addressing 36 genetic associations for various outcomes of disease. We show that significant between-study heterogeneity (diversity) is frequent, and that the results of the first study correlate only modestly with subsequent research on the same association. The first study often suggests a stronger genetic effect than is found by subsequent studies. Both bias and genuine population diversity might explain why early association studies tend to overestimate the disease protection or predisposition conferred by a genetic polymorphism. We conclude that a systematic meta-analytic approach may assist in estimating population-wide effects of genetic risk factors in human disease.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1038/ng749-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/11600885-
heal.journalNameNat Geneten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2001-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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