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Solving for X: Evidence for sex-specific autism biomarkers across multiple transcriptomic studies

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Version 2 2024-06-05, 11:50
Version 1 2018-12-11, 22:11
journal contribution
posted on 2024-06-05, 11:50 authored by SC Lee, TP Quinn, J Lai, SW Kong, I Hertz-Picciotto, SJ Glatt, Tamsyn CrowleyTamsyn Crowley, Svetha VenkateshSvetha Venkatesh, Thin NguyenThin Nguyen
Autism spectrum disorder (ASD) is a markedly heterogeneous condition with a varied phenotypic presentation. Its high concordance among siblings, as well as its clear association with specific genetic disorders, both point to a strong genetic etiology. However, the molecular basis of ASD is still poorly understood, although recent studies point to the existence of sex-specific ASD pathophysiologies and biomarkers. Despite this, little is known about how exactly sex influences the gene expression signatures of ASD probands. In an effort to identify sex-dependent biomarkers and characterize their function, we present an analysis of a single paired-end postmortem brain RNA-Seq data set and a meta-analysis of six blood-based microarray data sets. Here, we identify several genes with sex-dependent dysregulation, and many more with sex-independent dysregulation. Moreover, through pathway analysis, we find that these sex-independent biomarkers have substantially different biological roles than the sex-dependent biomarkers, and that some of these pathways are ubiquitously dysregulated in both postmortem brain and blood. We conclude by synthesizing the discovered biomarker profiles with the extant literature, by highlighting the advantage of studying sex-specific dysregulation directly, and by making a call for new transcriptomic data that comprise large female cohorts.

History

Journal

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volume

180

Season

Special Issue: Sex Differences in Neuropsychiatric Disorders

Pagination

377-389

Location

United States

Open access

  • Yes

ISSN

1552-4841

eISSN

1552-485X

Language

English

Publication classification

C Journal article, C1 Refereed article in a scholarly journal

Copyright notice

2018, Wiley Periodicals

Issue

6

Publisher

WILEY