Literature DB >> 36267781

Bioinformatics analysis of genomic and immune infiltration patterns in autism spectrum disorder.

Ru-Qiong Wei1, Wen-Liang Guo2, Yin-Teng Wu2, Raquel Alarcòn Rodrìguez3, Marìa Del Mar Requena Mullor3, Yu-Chang Gui1, Jian-Wen Xu1.   

Abstract

Background: Autism spectrum disorder (ASD) is a specific type of pervasive developmental disorder, and most studies suggest that the onset of autism may be related to genetic and immune factors. The etiology of autism and the underlying molecular events need to be further addressed.
Methods: The ASD-related dataset GSE18123 was downloaded from the Gene Expression Omnibus (GEO) database. Gene set enrichment analysis (GSEA) was used to screen for Gene Ontology (GO) terms and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways that may be associated with autism. The top 5,000 genes with an absolute median difference were obtained, and a co-expression network was constructed using weighted correlation network analysis (WGCNA). In addition, GO and KEGG enrichment analyses were performed for genes in the modules most closely related to ASD. Hub genes were found in the significant modules, and the expression values and receiver operating characteristic (ROC) curves of the hub genes were analyzed and validated. Immune cell infiltration in ASD was calculated using the CIBERSORT algorithm, and the relationship between hub genes and immune cells was analyzed. Finally, GSEA was used to explore the potential pathways of hub genes affecting ASD.
Results: The 5,000 DEGs were divided into eight significant modules by WGCNA. The green module was most significantly associated with ASD, and two hub genes [fatty acid-binding protein 2 (FABP2) and Janus kinase 2 (JAK2)] were found. Immune cell infiltration showed that resting dendritic cells and monocytes differed significantly in ASD and healthy individuals. FABP2 was significantly associated with memory B cells and CD8 T cells. JAK2 was significantly associated with monocytes, CD4 activated memory T cells, CD4 resting memory T cells, activated dendritic cells, gamma delta T cells, regulatory T cells (Tregs), CD8 T cells, and naïve CD4 T cells. FABP2 and JAK2 were found to affect multiple pathways of immunity. Conclusions: FABP2 and JAK2 may influence the immune microenvironment of ASD by regulating immune cells and immune-related pathways and are candidate molecular markers for the development of ASD. 2022 Annals of Translational Medicine. All rights reserved.

Entities:  

Keywords:  Autism spectrum disorder (ASD); CIBERSORT; immune cell infiltration

Year:  2022        PMID: 36267781      PMCID: PMC9577768          DOI: 10.21037/atm-22-4108

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN: 2305-5839


  74 in total

1.  Intestinal permeability correlates with behavioural severity in very young children with ASD: A preliminary study.

Authors:  Grace Teskey; Evdokia Anagnostou; Deepali Mankad; Sharon Smile; Wendy Roberts; Jessica Brian; Dawn M E Bowdish; Jane A Foster
Journal:  J Neuroimmunol       Date:  2021-05-12       Impact factor: 3.478

2.  The potential role of a retrotransposed gene and a long noncoding RNA in regulating an X-linked chromatin gene (KDM5C): Novel epigenetic mechanism in autism.

Authors:  Zohreh Talebizadeh; Ayten Shah; Luciano DiTacchio
Journal:  Autism Res       Date:  2019-05-14       Impact factor: 5.216

3.  Dysregulated Nrf2 signaling in response to di(2-ethylhexyl) phthalate in neutrophils of children with autism.

Authors:  Ahmed Nadeem; Sheikh F Ahmad; Naif O Al-Harbi; Laila Y Al-Ayadhi; Mohammed M Alanazi; Ali S Alfardan; Sabry M Attia; Mohammad Algahtani; Saleh A Bakheet
Journal:  Int Immunopharmacol       Date:  2022-02-16       Impact factor: 4.932

4.  Characterization of immune cell phenotypes in adults with autism spectrum disorders.

Authors:  José Manuel López-Cacho; Soledad Gallardo; Manuel Posada; Miriam Aguerri; David Calzada; Teodoro Mayayo; Carlos Lahoz; Blanca Cárdaba
Journal:  J Investig Med       Date:  2016-06-13       Impact factor: 2.895

5.  Increased vitamin D receptor gene expression and rs11568820 and rs4516035 promoter polymorphisms in autistic disorder.

Authors:  Burhan Balta; Hakan Gumus; Ruslan Bayramov; Keziban Korkmaz Bayramov; Murat Erdogan; Didem Behice Oztop; Muhammet Ensar Dogan; Serpil Taheri; Munis Dundar
Journal:  Mol Biol Rep       Date:  2018-05-18       Impact factor: 2.316

6.  Dysregulation of T cell immunoglobulin and mucin domain 3 (TIM-3) signaling in peripheral immune cells is associated with immune dysfunction in autistic children.

Authors:  Sheikh F Ahmad; Mushtaq A Ansari; Ahmed Nadeem; Saleh A Bakheet; Laila Y Al-Ayadhi; Moureq R Alotaibi; Ali R Alhoshani; Musaad A Alshammari; Sabry M Attia
Journal:  Mol Immunol       Date:  2018-12-24       Impact factor: 4.407

7.  Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Authors:  Holly K Harris; Tojo Nakayama; Jenny Lai; Boxun Zhao; Nikoleta Argyrou; Cynthia S Gubbels; Aubrie Soucy; Casie A Genetti; Victoria Suslovitch; Lance H Rodan; George E Tiller; Gaetan Lesca; Karen W Gripp; Reza Asadollahi; Ada Hamosh; Carolyn D Applegate; Peter D Turnpenny; Marleen E H Simon; Catharina M L Volker-Touw; Koen L I van Gassen; Ellen van Binsbergen; Rolph Pfundt; Thatjana Gardeitchik; Bert B A de Vries; LaDonna L Immken; Catherine Buchanan; Marcia Willing; Tomi L Toler; Emily Fassi; Laura Baker; Fleur Vansenne; Xiadong Wang; Julian L Ambrus; Madeleine Fannemel; Jennifer E Posey; Emanuele Agolini; Antonio Novelli; Anita Rauch; Paranchai Boonsawat; Christina R Fagerberg; Martin J Larsen; Maria Kibaek; Audrey Labalme; Alice Poisson; Katelyn K Payne; Laurence E Walsh; Kimberly A Aldinger; Jorune Balciuniene; Cara Skraban; Christopher Gray; Jill Murrell; Caleb P Bupp; Giulia Pascolini; Paola Grammatico; Martin Broly; Sébastien Küry; Mathilde Nizon; Iqra Ghulam Rasool; Muhammad Yasir Zahoor; Cornelia Kraus; André Reis; Muhammad Iqbal; Kevin Uguen; Severine Audebert-Bellanger; Claude Ferec; Sylvia Redon; Janice Baker; Yunhong Wu; Guiseppe Zampino; Steffan Syrbe; Ines Brosse; Rami Abou Jamra; William B Dobyns; Lilian L Cohen; Anne Blomhoff; Cyril Mignot; Boris Keren; Thomas Courtin; Pankaj B Agrawal; Alan H Beggs; Timothy W Yu
Journal:  Genet Med       Date:  2021-03-03       Impact factor: 8.864

8.  Robust enumeration of cell subsets from tissue expression profiles.

Authors:  Aaron M Newman; Chih Long Liu; Michael R Green; Andrew J Gentles; Weiguo Feng; Yue Xu; Chuong D Hoang; Maximilian Diehn; Ash A Alizadeh
Journal:  Nat Methods       Date:  2015-03-30       Impact factor: 28.547

9.  Postprandial Hypertriglyceridemia Is Associated with the Variant 54 Threonine FABP2 Gene.

Authors:  María Fatima Garcés Da Silva; Yamil Adrian Guarin; Yenny Carrero; Hilda Stekman; María Luisa Núñez Bello; Celsy Hernández; Rafael Apitz; Mercedes Fernández-Mestre; Germán Camejo
Journal:  J Cardiovasc Dev Dis       Date:  2018-09-13

Review 10.  Clinical Aspects of Janus Kinase (JAK) Inhibitors in the Cardiovascular System in Patients with Rheumatoid Arthritis.

Authors:  Przemysław J Kotyla; Md Asiful Islam; Małgorzata Engelmann
Journal:  Int J Mol Sci       Date:  2020-10-07       Impact factor: 5.923

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