Cited by 194Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenetic Associations and Epidemiology

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AutismKB: an evidence-based knowledgebase of autism genetics

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Xu, Li-Ming, Li, Jia-Rui, Huang, Yue, Zhao, Min, Tang, Xing, Wei, Liping·2012·Nucleic Acids Research

DOI 10.1093/nar/gkr1145PMC PMC3245106

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Abstract

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder with a prevalence of 0.9-2.6%. Twin studies showed a heritability of 38-90%, indicating strong genetic contributions. Yet it is unclear how many genes have been associated with ASD and how strong the evidence is. A comprehensive review and analysis of literature and data may bring a clearer big picture of autism genetics. We show that as many as 2193 genes, 2806 SNPs/VNTRs, 4544 copy number variations (CNVs) and 158 linkage regions have been associated with ASD by GWAS, genome-wide CNV studies, linkage analyses, low-scale genetic association studies, expression profiling and other low-scale experimental studies. To evaluate the evidence, we collected metadata about each study including clinical and demographic features, experimental design and statistical significance, and used a scoring and ranking approach to select a core data set of 434 high-confidence genes. The genes mapped to pathways including neuroactive ligand-receptor interaction, synapse transmission and axon guidance. To better understand the genes we parsed over 30 databases to retrieve extensive data about expression patterns, protein interactions, animal models and pharmacogenetics. We constructed a MySQL-based online database and share it with the broader autism research community at http://autismkb.cbi.pku.edu.cn, supporting sophisticated browsing and searching functionalities.

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Figure 2. CNV list and a typical CNV entry in AutismKB. (A) the CNV list in AutismKB and (B) a typical CNV entry.CC BY-NC · PubMed Central

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Authors: Xu, L.-M., Li, J.-R., Huang, Y., Zhao, M., Tang, X., & Wei, L.
Affiliations: Peking University (CN)
Corresponding author: Wei, Liping
ORCID: Zhao, Min
Tang, Xing
Wei, Liping
Venue: Nucleic Acids Research
Publisher: Oxford University Press (OUP)
Published: 2011-12-01
Volume: 40
Issue: D1
Pages: D1016-D1022
ISSN: 0305-1048 (ISSN-L)
1362-4962
DOI: 10.1093/nar/gkr1145
PMC: PMC3245106
OpenAlex: W2039778388
Cited by: 179
References: 65
Citations by year: 2026: 4 · 2025: 9 · 2024: 5 · 2023: 6 · 2022: 9 · 2021: 6 · 2020: 14 · 2019: 8 · 2018: 19 · 2017: 14 · 2016: 16 · 2015: 14 · 2014: 21 · 2013: 22 · 2012: 12
FWCI: 8.94
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by-nc
creativecommons.org/licenses/by-nc/3.0 (vor, 1989 d)
Locations: Nucleic Acids Research (publishedVersion, cc-by-nc)
PubMed Central (publishedVersion, cc-by-nc)
PubMed (publishedVersion)
HighWire Press Open Archive (submittedVersion)
Funders: National Natural Science Foundation of China (31025014, 2011CBA01102)
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, autism genetics, gene ranking, copy number variation, single nucleotide polymorphisms, linkage region, neurodevelopmental disorders, axon guidance, neuroactive ligand-receptor interaction, gene expression profiling, protein-protein interaction, animal models, pharmacogenetics
MeSH terms: Autistic Disorder, Humans, Genetic Linkage, User-Computer Interface, Genetic Variation, Databases, Genetic, Knowledge Bases, Molecular Sequence Annotation

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