Blood biomarker discovery for autism spectrum disorder: A proteomic analysis.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests, or activities. Given the lack of specific pharmacological therapy for ASD and the clinical heterogeneit...

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Main Authors: Laura Hewitson, Jeremy A Mathews, Morgan Devlin, Claire Schutte, Jeon Lee, Dwight C German
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2024-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0302951
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author Laura Hewitson
Jeremy A Mathews
Morgan Devlin
Claire Schutte
Jeon Lee
Dwight C German
author_facet Laura Hewitson
Jeremy A Mathews
Morgan Devlin
Claire Schutte
Jeon Lee
Dwight C German
author_sort Laura Hewitson
collection DOAJ
description Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests, or activities. Given the lack of specific pharmacological therapy for ASD and the clinical heterogeneity of the disorder, current biomarker research efforts are geared mainly toward identifying markers for determining ASD risk or for assisting with a diagnosis. A wide range of putative biological markers for ASD are currently being investigated. Proteomic analyses indicate that the levels of many proteins in plasma/serum are altered in ASD, suggesting that a panel of proteins may provide a blood biomarker for ASD. Serum samples from 76 boys with ASD and 78 typically developing (TD) boys, 2-10 years of age, were analyzed to identify possible early biological markers for ASD. Proteomic analysis of serum was performed using SomaLogic's SOMAScanTM assay 1.3K platform. A total of 1,125 proteins were analyzed. There were 86 downregulated proteins and 52 upregulated proteins in ASD (FDR < 0.05). Combining three different algorithms, we found a panel of 12 proteins that identified ASD with an area under the curve (AUC) = 0.8790±0.0572, with specificity and sensitivity of 0.8530±0.1076 and 0.8324±0.1137, respectively. All 12 proteins were significantly different in ASD compared with TD boys, and 4 were significantly correlated with ASD severity as measured by ADOS total scores. Using machine learning methods, a panel of serum proteins was identified that may be useful as a blood biomarker for ASD in boys. Further verification of the protein biomarker panel with independent test sets is warranted.
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spelling doaj-art-fdb9e24289c242f3a702a44a82a515ee2025-01-08T05:32:59ZengPublic Library of Science (PLoS)PLoS ONE1932-62032024-01-011912e030295110.1371/journal.pone.0302951Blood biomarker discovery for autism spectrum disorder: A proteomic analysis.Laura HewitsonJeremy A MathewsMorgan DevlinClaire SchutteJeon LeeDwight C GermanAutism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests, or activities. Given the lack of specific pharmacological therapy for ASD and the clinical heterogeneity of the disorder, current biomarker research efforts are geared mainly toward identifying markers for determining ASD risk or for assisting with a diagnosis. A wide range of putative biological markers for ASD are currently being investigated. Proteomic analyses indicate that the levels of many proteins in plasma/serum are altered in ASD, suggesting that a panel of proteins may provide a blood biomarker for ASD. Serum samples from 76 boys with ASD and 78 typically developing (TD) boys, 2-10 years of age, were analyzed to identify possible early biological markers for ASD. Proteomic analysis of serum was performed using SomaLogic's SOMAScanTM assay 1.3K platform. A total of 1,125 proteins were analyzed. There were 86 downregulated proteins and 52 upregulated proteins in ASD (FDR < 0.05). Combining three different algorithms, we found a panel of 12 proteins that identified ASD with an area under the curve (AUC) = 0.8790±0.0572, with specificity and sensitivity of 0.8530±0.1076 and 0.8324±0.1137, respectively. All 12 proteins were significantly different in ASD compared with TD boys, and 4 were significantly correlated with ASD severity as measured by ADOS total scores. Using machine learning methods, a panel of serum proteins was identified that may be useful as a blood biomarker for ASD in boys. Further verification of the protein biomarker panel with independent test sets is warranted.https://doi.org/10.1371/journal.pone.0302951
spellingShingle Laura Hewitson
Jeremy A Mathews
Morgan Devlin
Claire Schutte
Jeon Lee
Dwight C German
Blood biomarker discovery for autism spectrum disorder: A proteomic analysis.
PLoS ONE
title Blood biomarker discovery for autism spectrum disorder: A proteomic analysis.
title_full Blood biomarker discovery for autism spectrum disorder: A proteomic analysis.
title_fullStr Blood biomarker discovery for autism spectrum disorder: A proteomic analysis.
title_full_unstemmed Blood biomarker discovery for autism spectrum disorder: A proteomic analysis.
title_short Blood biomarker discovery for autism spectrum disorder: A proteomic analysis.
title_sort blood biomarker discovery for autism spectrum disorder a proteomic analysis
url https://doi.org/10.1371/journal.pone.0302951
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