Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population
Open accessAbstract
OBJECTIVE: A study in a Caucasian population has identified two single-nucleotide polymorphisms (SNPs) in ZNF533, one in DOCK4, and two in IMMP2L, which were all significantly associated with autism. They are located in AUTS1 and AUTS5, which have been identified as autism susceptibility loci in several genome-wide screens. The present study aimed to investigate whether ZNF533, DOCK4, and IMMP2L genes are also associated with autism in a northeastern Chinese Han population. METHODS: We performed a similar association study using families with three individuals (one autistic child and two unaffected parents). A family-based transmission disequilibrium test (TDT) was used to analyze the results. RESULTS: There were significant associations between autism and the two SNPs of ZNF533 gene (rs11885327: χ(2)=4.5200, P=0.0335; rs1964081: χ(2)=4.2610, P=0.0390) and the SNP of DOCK4 gene (rs2217262: χ(2)=5.3430, P=0.0208). CONCLUSIONS: Our data suggest that ZNF533 and DOCK4 genes are linked to a predisposition to autism in the northeastern Chinese Han population.
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Recent studies have identified DOCK4 variations associated with ASD, including single nucleotide variations and chromosome microdeletions or duplications.
“Recent studies have identified a number of DOCK4 variations associated with ASD, including both single nucleotide variations (SNVs) and chromosome microdeletions or duplications (Supplementary Table 1) 18–26.”
From Autism-like social deficit generated by Dock4 deficiency is rescued by restoration of Rac1 activity and NMDA receptor function. (2021) · cites this paper as [20]
The Discussion reports an association between the DOCK4 SNP rs2217262 and autism, and describes genomic disruption of DOCK4 in relation to autism. The References identify a study of rare DOCK4 deletions, but our copy does not identify DOCK4 duplications associated with ASD. The claim’s duplication component is therefore unsupported by this source. (LLM, conf=0.86)
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Cited by
Sorted by citations
Guo, D., Peng, Y., Wang, L., Sun, X., Wang, X., Liang, C., Yang, X., Li, S., Xu, J., Ye, W.-C., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-019-0472-7 · Cited by 102 · see citing works
Self-citationHuang, M., Liang, C., Li, S., Zhang, J., Guo, D., Zhao, B., Liu, Y., Peng, Y., Xu, J., Liu, W., et al. (2020) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00577 · Cited by 41 · see citing works
“Among them, Dock4 has attracted recent attention as emerging evidence suggests DOCK4 as a candidate gene for several neuropsychiatric diseases, including autism spectrum disorder (ASD), dyslexia and schizophrenia (Maestrini et al., 2010; Pagnamenta et al., 2010; Poelmans et al., 2011; Alkelai et al., 2012; Iossifov et…”
BackgroundThompson, A. P., Bitsina, C., Gray, J. L., von Delft, F., & Brennan, P. E. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.100521 · Cited by 21 · see citing works
“Indeed, DOCK4 polymorphism has been identified as a risk factor for these disorders in genetic studies (86, 87).”
Background
- Authors
- Liang, S., Wang, X.-L., Zou, M.-Y., Wang, H., Zhou, X., Sun, C.-H., Xia, W., Wu, L.-J., Fujisawa, T. X., & Tomoda, A.
- Affiliations
- University of Fukui (JP)
- Harbin Medical University (CN)
- Venue
- Journal of Zhejiang University SCIENCE B
- Publisher
- Zhejiang University Press
- Published
- 2014-03
- Volume
- 15
- Issue
- 3
- Pages
- 264-271
- ISSN
- 1673-1581 (ISSN-L)
- 1862-1783
- PMC
- PMC3955913
- OpenAlex
- W2072228754
- Cited by
- 33
- References
- 8
- Citations by year
- 2026: 2 · 2025: 1 · 2023: 3 · 2022: 2 · 2021: 6 · 2020: 8 · 2019: 3 · 2018: 1 · 2017: 4 · 2016: 1 · 2015: 2
- FWCI
- 1.30
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Zhejiang University SCIENCE B (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Harbin Medical University
- National Natural Science Foundation of China
- Japan Society for the Promotion of Science (24300149, 25560386, 25750405)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- autism spectrum disorder, DOCK4, IMMP2L, single nucleotide polymorphisms, genetic association, Han Chinese
- MeSH terms
- Adolescent, Adult, Autistic Disorder, Child, Child, Preschool, China, DNA, Family, Female, Genotype, Humans, Male, Nuclear Proteins, Endopeptidases, Repressor Proteins, Polymerase Chain Reaction, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, GTPase-Activating Proteins, Asian People, Genetic Association Studies
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