Cerebrospinal fluid and serum protein markers in autism: A co‐twin study

No robust biomarkers have yet been identified for autism spectrum disorder (ASD) or autistic traits. Familial factors likely influence biomarkers such as protein concentrations. Comparing twins with ASD or high autistic traits to the less affected co‐twin allows estimating the impact of familial con...

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Veröffentlicht in:Journal of neurochemistry 2021-08, Vol.158 (3), p.798-806
Hauptverfasser: Smedler, Erik, Kleppe, Johanna, Neufeld, Janina, Lundin, Karl, Bölte, Sven, Landén, Mikael
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container_issue 3
container_start_page 798
container_title Journal of neurochemistry
container_volume 158
creator Smedler, Erik
Kleppe, Johanna
Neufeld, Janina
Lundin, Karl
Bölte, Sven
Landén, Mikael
description No robust biomarkers have yet been identified for autism spectrum disorder (ASD) or autistic traits. Familial factors likely influence biomarkers such as protein concentrations. Comparing twins with ASD or high autistic traits to the less affected co‐twin allows estimating the impact of familial confounding. We measured 203 proteins in cerebrospinal fluid (n = 86) and serum (n = 127) in twins (mean age 14.2 years, 44.9% females) enriched for ASD and other neurodevelopmental conditions. Autistic traits were assessed by using the parent‐report version of the Social Responsiveness Scale‐2. In cerebrospinal fluid, autistic traits correlated negatively with three proteins and positively with one. In serum, autistic traits correlated positively with 15 and negatively with one. Also in serum, six were positively—and one negatively—associated with ASD. A pathway analysis of these proteins revealed immune system enrichment. In within twin pair analyses, autistic traits were associated with serum B‐cell activating factor (BAFF) only, whereas Cystatin B (CSTB) remained significantly associated with ASD. These associations did not remain significant when only considering monozygotic twins. For the remainder, the within‐pair analysis indicated familial confounding, including shared environment and genes, influencing both autism and protein levels. Our findings indicate proteins involved in immunity as putative biomarkers of autistic traits and ASD with partial genetic confounding. Although some results are in line with previous studies in general, further studies are needed for replication. Using a twin cohort enriched for autism spectrum disorder (ASD) and other neurodevelopmental conditions, we report putative serum and cerebrospinal fluid (CSF) biomarkers for ASD involved in immunity. Especially, we highlight B‐cell activating factor (BAFF) and Cystatin B (CSTB), that withstood correction for shared genetics. TD, typically developing. ADHD, attention deficit hyperactivity disorder.
doi_str_mv 10.1111/jnc.15338
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Familial factors likely influence biomarkers such as protein concentrations. Comparing twins with ASD or high autistic traits to the less affected co‐twin allows estimating the impact of familial confounding. We measured 203 proteins in cerebrospinal fluid (n = 86) and serum (n = 127) in twins (mean age 14.2 years, 44.9% females) enriched for ASD and other neurodevelopmental conditions. Autistic traits were assessed by using the parent‐report version of the Social Responsiveness Scale‐2. In cerebrospinal fluid, autistic traits correlated negatively with three proteins and positively with one. In serum, autistic traits correlated positively with 15 and negatively with one. Also in serum, six were positively—and one negatively—associated with ASD. A pathway analysis of these proteins revealed immune system enrichment. In within twin pair analyses, autistic traits were associated with serum B‐cell activating factor (BAFF) only, whereas Cystatin B (CSTB) remained significantly associated with ASD. These associations did not remain significant when only considering monozygotic twins. For the remainder, the within‐pair analysis indicated familial confounding, including shared environment and genes, influencing both autism and protein levels. Our findings indicate proteins involved in immunity as putative biomarkers of autistic traits and ASD with partial genetic confounding. Although some results are in line with previous studies in general, further studies are needed for replication. Using a twin cohort enriched for autism spectrum disorder (ASD) and other neurodevelopmental conditions, we report putative serum and cerebrospinal fluid (CSF) biomarkers for ASD involved in immunity. 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source SWEPUB Freely available online; Access via Wiley Online Library; IngentaConnect Free/Open Access Journals; EZB-FREE-00999 freely available EZB journals; Wiley Online Library (Open Access Collection); Free Full-Text Journals in Chemistry
subjects Autism
Autism spectrum disorder
autistic traits
Biomarkers
BLyS protein
Cerebrospinal fluid
Clinical Medicine
Cystatins
environmental factors
genetics
Immune system
Klinisk medicin
Medicin och hälsovetenskap
Proteins
Psychiatry
Psykiatri
Serum proteins
Twin studies
Twins
title Cerebrospinal fluid and serum protein markers in autism: A co‐twin study
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