Research Article
Open access
Published on 3 January 2025
Download pdf
Bai,L. (2025). Association between autism and various genes: Review and summarize. Journal of Clinical Technology and Theory,2,16-19.
Export citation

Association between autism and various genes: Review and summarize

Linjin Bai *,1,
  • 1 Shanxi Medical University, Jinzhong City, Shanxi Province

* Author to whom correspondence should be addressed.

https://doi.org/10.54254/3049-5458/2025.20362

Abstract

Autism has emerged as a prominent health concern among humans. The genes related to autism risk are crucial in developing this disorder. This research examined prior investigations focused on identifying the candidate genes linked to autism. A systematic search was conducted across electronic databases and scientific literature papers. Eventually, we consolidated and presented the ten genes connected with autism.

Keywords

autism risk genes, autism spectrum disorder, gene sequencing, mouse model

[1]. Persico, A. M., & Napolioni, V. (2013). Autism genetics. Behavioural Brain Research, 251, 95–112. https://doi.org/10.1016/j.bbr.2013.06.012

[2]. Sanders, S. J. (2019). Next-generation sequencing in autism spectrum disorder. Cold Spring Harbor Perspectives in Medicine, 9(8), a026872. https://doi.org/10.1101/cshperspect.a026872

[3]. Zhang, L., Qin, Y., Gong, X., Peng, R., Cai, C., Zheng, Y., Du, Y., & Wang, H. (2019). A promoter variant in ZNF804A decreasing its expression increases the risk of autism spectrum disorder in the Han Chinese population. Translational Psychiatry, 9(1), 31. https://doi.org/10.1038/s41398-019-0369-x

[4]. Li, J., Liu, J., Zhao, L., Ma, Y., Jia, M., Lu, T., Ruan, Y., et al. (2013). Association study between genes in reelin signaling pathway and autism identifies DAB1 as a susceptibility gene in a Chinese Han population. Progress in Neuro-Psychopharmacology & Biological Psychiatry, 44, 226–232. https://doi.org/10.1016/j.pnpbp.2013.01.004

[5]. Cuchillo-Ibáñez, I., Andreo-Lillo, P., Pastor-Ferrándiz, L., Carratalá-Marco, F., & Sáez-Valero, J. (2020). Elevated plasma reelin levels in children with autism. Frontiers in Psychiatry, 11, 242. https://doi.org/10.3389/fpsyt.2020.00242

[6]. Anitha, A., Thanseem, I., Nakamura, K., Vasu, M. M., Yamada, K., Ueki, T., Iwayama, Y., et al. (2014). Zinc finger protein 804A (ZNF804A) and verbal deficits in individuals with autism. Journal of Psychiatry & Neuroscience, 39(5), 294–303. https://doi.org/10.1503/jpn.130126

[7]. Tian, P. (2012). RELN gene polymorphisms and susceptibility to autism in Chinese Han population. Neurology India, 60(6), 581. https://doi.org/10.4103/0028-3886.105190

[8]. Peça, J., Feliciano, C., Ting, J. T., Wang, W., Wells, M. F., Venkatraman, T. N., Lascola, C. D., Fu, Z., & Feng, G. (2011). Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. Nature, 472(7344), 437–442. https://doi.org/10.1038/nature09965

[9]. Weissberg, O., & Elliott, E. (2021). The mechanisms of CHD8 in neurodevelopment and autism spectrum disorders. Genes, 12(8), 1133. https://doi.org/10.3390/genes12081133

[10]. Onay, H., Kacamak, D., Kavasoglu, A. N., Akgun, B., Yalcinli, M., Kose, S., & Ozbaran, B. (2016). Mutation analysis of the NRXN1 gene in autism spectrum disorders. Balkan Journal of Medical Genetics, 19(2), 17–21. https://doi.org/10.1515/bjmg-2016-0031

[11]. Strom, S. P., Stone, J. L., ten Bosch, J. R., Merriman, B., Cantor, R. M., Geschwind, D. H., & Nelson, S. F. (2010). High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene. Molecular Psychiatry, 15(10), 996–1005. https://doi.org/10.1038/mp.2009.41

[12]. Chen, C.-H., Huang, C.-C., Cheng, M.-C., Chiu, Y.-N., Tsai, W.-C., Wu, Y.-Y., Liu, S.-K., & Gau, S. S.-F. (2014). Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders. Molecular Autism, 5, 36. https://doi.org/10.1186/2040-2392-5-36

[13]. Lu, L., Peng, Y., Xun, G., Liu, Y., Xiong, Z., Tian, D., Liu, Y., et al. (2014). Common and rare variants of the THBS1 gene associated with the risk for autism. Psychiatric Genetics, 24(6), 235. https://doi.org/10.1097/YPG.0000000000000054

[14]. Gabellini, C., Pucci, C., De Cesari, C., Martini, D., Di Lauro, C., Digregorio, M., Norton, W., et al. (2023). CRISPR/Cas9-induced inactivation of the autism-risk gene Setd5 leads to social impairments in zebrafish. International Journal of Molecular Sciences, 24(1), 167. https://doi.org/10.3390/ijms24010167

[15]. Uchino, S., & Waga, C. (2013). SHANK3 as an autism spectrum disorder-associated gene. Brain and Development, 35(2), 106–110. https://doi.org/10.1016/j.braindev.2012.05.013

[16]. Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, P., Nygren, G., et al. (2007). Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nature Genetics, 39(1), 25–27. https://doi.org/10.1038/ng1933

[17]. Yang, T., Kaiser, T., Monteiro, P., Zhang, X., Van der Goes, M. S., Wang, D., Barak, B., et al. (2016). Mice with Shank3 mutations associated with ASD and schizophrenia display both shared and distinct defects. Neuron, 89(1), 147–162. https://doi.org/10.1016/j.neuron.2015.11.023

[18]. Kawamura, A., & Nishiyama, M. (2023). Deletion of the autism-related gene Chd8 alters activity-dependent transcriptional responses in mouse postmitotic neurons. Communications Biology, 6, 593. https://doi.org/10.1038/s42003-023-04968-y

[19]. Suetterlin, P., Hurley, S., Mohan, C., Riegman, K. L. H., Pagani, M., Caruso, A., Ellegood, J., et al. (2018). Altered neocortical gene expression, brain overgrowth and functional over-connectivity in Chd8 haploinsufficient mice. Cerebral Cortex, 28(6), 2192–2206. https://doi.org/10.1093/cercor/bhy058

[20]. Scala, M., Grasso, E. A., Di Cara, G., Riva, A., Striano, P., & Verrotti, A. (2022). The pathophysiological link between reelin and autism: Overview and new insights. Frontiers in Genetics, 13. https://doi.org/10.3389/fgene.2022.869002

[21]. Lakatosova, S., & Ostatnikova, D. (2012). Reelin and its complex involvement in brain development and function. The International Journal of Biochemistry & Cell Biology, 44(9), 1501–1504. https://doi.org/10.1016/j.biocel.2012.06.002

Cite this article

Bai,L. (2025). Association between autism and various genes: Review and summarize. Journal of Clinical Technology and Theory,2,16-19.

Data availability

The datasets used and/or analyzed during the current study will be available from the authors upon reasonable request.

Disclaimer/Publisher's Note

The statements, opinions and data contained in all publications are solely those of the individual author(s) and contributor(s) and not of EWA Publishing and/or the editor(s). EWA Publishing and/or the editor(s) disclaim responsibility for any injury to people or property resulting from any ideas, methods, instructions or products referred to in the content.

About volume

Journal:Journal of Clinical Technology and Theory

Volume number: Vol.2
ISSN:3049-5458(Print) / 3049-5466(Online)

© 2024 by the author(s). Licensee EWA Publishing, Oxford, UK. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license. Authors who publish this series agree to the following terms:
1. Authors retain copyright and grant the series right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgment of the work's authorship and initial publication in this series.
2. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the series's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgment of its initial publication in this series.
3. Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See Open access policy for details).