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Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders.

ABSTRACT: Autism 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.

SUBMITTER: Kong SW

PROVIDER: S-EPMC3515554 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders.

Kong Sek Won SW Collins Christin D CD Shimizu-Motohashi Yuko Y Holm Ingrid A IA Campbell Malcolm G MG Lee In-Hee IH Brewster Stephanie J SJ Hanson Ellen E Harris Heather K HK Lowe Kathryn R KR Saada Adrianna A Mora Andrea A Madison Kimberly K Hundley Rachel R Egan Jessica J McCarthy Jillian J Eran Ally A Galdzicki Michal M Rappaport Leonard L Kunkel Louis M LM Kohane Isaac S IS

PloS one 20121205 12

Autism 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 signal ...[more]

PMID: 23227143

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Project description:IntroductionThis study aimed to assess the predictive role of blood markers in neuromyelitis optica spectrum disorders (NMOSD).MethodsData from patients with NMOSD, multiple sclerosis (MS), and healthy individuals were retrospectively collected in a 1:1:1 ratio. The expanded disability status scale (EDSS) score was used to assess the severity of the NMOSD upon admission. Receiver operating characteristic (ROC) curve analysis was used to distinguish NMOSD patients from healthy individuals, and active NMOSD from remitting NMOSD patients. Binary logistic regression analysis was used to evaluate risk factors that could be used to predict disease recurrence. Finally, Wilcoxon signed-rank test or matched-sample t-test was used to analyze the differences between the indicators in the remission and active phases in the same NMOSD patient.ResultsAmong the 54 NMOSD patients, neutrophil count, neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and systemic immune-inflammation index (SII) (platelet × NLR) were significantly higher than those of MS patients and healthy individuals and positively correlated with the EDSS score of NMOSD patients at admission. PLR can be used to simultaneously distinguish between NMOSD patients in the active and remission phase. Eleven (20.4%) of the 54 patients had recurrence within 12 months. We found that monocyte-to-lymphocyte ratio (MLR) (AUC = 0.76, cut-off value = 0.34) could effectively predict NMOSD recurrence. Binary logistic regression analysis showed that a higher MLR at first admission was the only risk factor for recurrence (p = 0.027; OR = 1.173; 95% CI = 1.018-1.351). In patients in the relapsing phase, no significant changes in monocyte and lymphocyte count was observed from the first admission, whereas patients in remission had significantly higher levels than when they were first admitted.ConclusionHigh PLR is a characteristic marker of active NMOSD, while high MLR is a risk factor for disease recurrence. These inexpensive indicators should be widely used in the diagnosis, prognosis, and judgment of treatment efficacy in NMOSD.

Dataset Information

Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders.

Publications

Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders.

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