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Post published on Twitter/X on 7 Mar 2021 09:41

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Erik Smedler, Johanna Kleppe, Janina Neufeld, Karl Lundin, Sven Bölte, Mikael Landén (2021). Cerebrospinal fluid and serum protein markers in autism: A co‐twin study. Journal of Neurochemistry, 158(3), 798-806. Wiley.

Publication date
5 Apr 2021
Identifier
10.1111/jnc.15338
Authors
Erik Smedler, Johanna Kleppe, Janina Neufeld, Karl Lundin, Sven Bölte, Mikael Landén
Source
Journal of Neurochemistry
Details
158(3), 798-806
Reference type
article
Publisher
Wiley
Metadata source
crossref

Abstract

Abstract 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. image

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