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Molecular Autism
Published in: Molecular Autism 1/2013

Open Access 01-12-2013 | Research

Increased gene expression of FOXP1 in patients with autism spectrum disorders

Authors: Wei-Hsien Chien, SusanShur-Fen Gau, Chun-Houh Chen, Wen-Che Tsai, Yu-Yu Wu, Po-Hsu Chen, Chi-Yung Shang, Chia-Hsiang Chen

Published in: Molecular Autism | Issue 1/2013

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Abstract

Background

Comparative gene expression profiling analysis is useful in discovering differentially expressed genes associated with various diseases, including mental disorders. Autism spectrum disorders (ASD) are a group of complex childhood-onset neurodevelopmental and genetic disorders characterized by deficits in language development and verbal communication, impaired reciprocal social interaction, and the presence of repetitive behaviors or restricted interests. The study aimed to identify novel genes associated with the pathogenesis of ASD.

Methods

We conducted comparative total gene expression profiling analysis of lymphoblastoid cell lines (LCL) between 16 male patients with ASD and 16 male control subjects to screen differentially expressed genes associated with ASD. We verified one of the differentially expressed genes, FOXP1, using real-time quantitative PCR (RT-qPCR) in a sample of 83 male patients and 83 male controls that included the initial 16 male patients and male controls, respectively.

Results

A total of 252 differentially expressed probe sets representing 202 genes were detected between the two groups, including 89 up- and 113 downregulated genes in the ASD group. RT-qPCR verified significant elevation of the FOXP1 gene transcript of LCL in a sample of 83 male patients (10.46 ± 11.34) compared with 83 male controls (5.17 ± 8.20, P = 0.001).

Conclusions

Comparative gene expression profiling analysis of LCL is useful in discovering novel genetic markers associated with ASD. Elevated gene expression of FOXP1 might contribute to the pathogenesis of ASD.

Clinical trial registration

Identifier: NCT00494754
Appendix
Available only for authorised users
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Metadata
Title
Increased gene expression of FOXP1 in patients with autism spectrum disorders
Authors
Wei-Hsien Chien
SusanShur-Fen Gau
Chun-Houh Chen
Wen-Che Tsai
Yu-Yu Wu
Po-Hsu Chen
Chi-Yung Shang
Chia-Hsiang Chen
Publication date
01-12-2013
Publisher
BioMed Central
Published in
Molecular Autism / Issue 1/2013
Electronic ISSN: 2040-2392
DOI
https://doi.org/10.1186/2040-2392-4-23

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