Author:
Chien Wei-Hsien,Gau SusanShur-Fen,Chen Chun-Houh,Tsai Wen-Che,Wu Yu-Yu,Chen Po-Hsu,Shang Chi-Yung,Chen Chia-Hsiang
Abstract
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
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Developmental Biology,Developmental Neuroscience,Molecular Biology
Reference61 articles.
1. America Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders (DSM-IV). 1994, Washington, DC: American Psychiatric Association Press Inc
2. Kogan MD, Blumberg SJ, Schieve LA, Boyle CA, Perrin JM, Ghandour RM, Singh GK, Strickland BB, Trevathan E, van Dyck PC: Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007. Pediatrics. 2009, 124: 1395-1403. 10.1542/peds.2009-1522.
3. Kim YS, Leventhal BL, Koh YJ, Fombonne E, Laska E, Lim EC, Cheon KA, Kim SJ, Kim YK, Lee H, Song DH, Grinker RR: Prevalence of autism spectrum disorders in a total population sample. Am J Psychiatry. 2011, 168: 904-912. 10.1176/appi.ajp.2011.10101532.
4. Holt R, Monaco AP: Links between genetics and pathophysiology in the autism spectrum disorders. EMBO Mol Med. 2011, 3: 438-450. 10.1002/emmm.201100157.
5. Eapen V: Genetic basis of autism: is there a way forward?. Curr Opin Psychiatry. 2011, 24: 226-236. 10.1097/YCO.0b013e328345927e.
Cited by
52 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献