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dc.contributor.authorKong, Sek Won
dc.contributor.authorCollins, Christin D.
dc.contributor.authorShimizu-Motohashi, Yuko
dc.contributor.authorHolm, Ingrid A.
dc.contributor.authorCampbell, Malcolm G.
dc.contributor.authorLee, In-Hee
dc.contributor.authorBrewster, Stephanie J.
dc.contributor.authorHanson, Ellen M.
dc.contributor.authorHarris, Heather
dc.contributor.authorLowe, Kathryn R.
dc.contributor.authorSaada, Adrianna
dc.contributor.authorMora, Andrea
dc.contributor.authorMadison, Kimberly
dc.contributor.authorHundley, Rachel
dc.contributor.authorEgan, Jessica
dc.contributor.authorMcCarthy, Jillian
dc.contributor.authorEran, Ally
dc.contributor.authorGaldzicki, Michal
dc.contributor.authorRappaport, Leonard
dc.contributor.authorKunkel, Louis M.
dc.contributor.authorKohane, Isaac S.
dc.date.accessioned2013-04-24T21:02:19Z
dc.date.issued2012
dc.identifier.citationKong, Sek Won, Christin D. Collins, Yuko Shimizu-Motohashi, Ingrid A. Holm, Malcolm G. Campbell, In-Hee Lee, Stephanie J. Brewster, et al. 2012. Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. PLoS ONE 7(12): e49475.en_US
dc.identifier.issn1932-6203en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:10582123
dc.description.abstractAutism Spectrum Disorders (ASD) is a spectrum of highly heritable neurodevelopmental disorders in which known mutations contribute to disease risk in 20% of cases. Here, we report the results of the largest blood transcriptome study to date that aims to identify differences in 170 ASD cases and 115 age/sex-matched controls and to evaluate the utility of gene expression profiling as a tool to aid in the diagnosis of ASD. The differentially expressed genes were enriched for the neurotrophin signaling, long-term potentiation/depression, and notch signaling pathways. We developed a 55-gene prediction model, using a cross-validation strategy, on a sample cohort of 66 male ASD cases and 33 age-matched male controls (P1). Subsequently, 104 ASD cases and 82 controls were recruited and used as a validation set (P2). This 55-gene expression signature achieved 68% classification accuracy with the validation cohort (area under the receiver operating characteristic curve (AUC): 0.70 [95% confidence interval [CI]: 0.62–0.77]). Not surprisingly, our prediction model that was built and trained with male samples performed well for males (AUC 0.73, 95% CI 0.65–0.82), but not for female samples (AUC 0.51, 95% CI 0.36–0.67). The 55-gene signature also performed robustly when the prediction model was trained with P2 male samples to classify P1 samples (AUC 0.69, 95% CI 0.58–0.80). Our result suggests that the use of blood expression profiling for ASD detection may be feasible. Further study is required to determine the age at which such a test should be deployed, and what genetic characteristics of ASD can be identified.en_US
dc.language.isoen_USen_US
dc.publisherPublic Library of Scienceen_US
dc.relation.isversionofdoi:10.1371/journal.pone.0049475en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3515554/pdf/en_US
dash.licenseLAA
dc.subjectBiologyen_US
dc.subjectComputational Biologyen_US
dc.subjectMolecular Geneticsen_US
dc.subjectGene Expressionen_US
dc.subjectGeneticsen_US
dc.subjectGene Functionen_US
dc.subjectGene Networksen_US
dc.subjectGenetic Screensen_US
dc.subjectGenetics of Diseaseen_US
dc.subjectNeuroscienceen_US
dc.subjectCognitive Neuroscienceen_US
dc.subjectComputational Neuroscienceen_US
dc.subjectMedicineen_US
dc.subjectMental Healthen_US
dc.subjectPsychiatryen_US
dc.subjectChild Psychiatryen_US
dc.titleCharacteristics and Predictive Value of Blood Transcriptome Signature in Males with Autism Spectrum Disordersen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalPLoS ONEen_US
dash.depositing.authorKong, Sek Won
dc.date.available2013-04-24T21:02:19Z
dc.identifier.doi10.1371/journal.pone.0049475*
dash.authorsorderedfalse
dash.contributor.affiliatedHanson, Ellen
dash.contributor.affiliatedShimizu-Motohashi, Yuko
dash.contributor.affiliatedCampbell, Malcolm G.
dash.contributor.affiliatedCollins, Christin D.
dash.contributor.affiliatedLee, In-Hee
dash.contributor.affiliatedRappaport, Leonard
dash.contributor.affiliatedKunkel, Louis
dash.contributor.affiliatedKong, Sek Won
dash.contributor.affiliatedHolm, Ingrid
dash.contributor.affiliatedKohane, Isaac


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