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Published on: September 6, 2024
AutismKB: an evidence-based knowledgebase of autism genetics
Li-Ming Xu1, Jia-Rui Li, Yue Huang
1Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, College of Life Sciences, Peking University, Beijing 100871, PR China.
Nucleic Acids Research
|December 6, 2011
Summary
This study comprehensively reviews autism genetics, identifying 434 high-confidence genes associated with autism spectrum disorder (ASD). The findings provide a clearer picture of autism genetics and a valuable resource for researchers.
Area of Science:
- Genetics
- Neuroscience
- Bioinformatics
Background:
- Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with significant heritability.
- The precise genetic architecture and strength of evidence for associated genes remain unclear.
- A comprehensive genetic analysis is needed to consolidate current knowledge.
Purpose of the Study:
- To systematically review and analyze genetic associations with ASD.
- To identify a high-confidence set of genes implicated in ASD.
- To create a publicly accessible database of autism-related genetic information.
Main Methods:
- Literature review and data analysis of genetic association studies, GWAS, CNV studies, and linkage analyses.
- Development of a scoring and ranking system to evaluate evidence strength.
- Integration of data from over 30 databases for gene characterization.
- Construction of a MySQL-based online database.
Main Results:
- Identification of 2193 genes, 2806 SNPs/VNTRs, 4544 CNVs, and 158 linkage regions associated with ASD.
- Selection of a core dataset of 434 high-confidence genes based on evidence scoring.
- These genes are enriched in pathways critical for neurodevelopment, including neuroactive ligand-receptor interaction, synapse transmission, and axon guidance.
- An online database (http://autismkb.cbi.pku.edu.cn) was created to share these findings.
Conclusions:
- This study provides a consolidated and high-confidence set of genes associated with ASD.
- The developed database serves as a valuable resource for the autism research community.
- Further research can leverage this resource to explore the genetic underpinnings of ASD and develop targeted interventions.
Related Concept Videos
01:19Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
01:23Behavioral Genetics and Its Designs
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
01:43Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:35Pedigree Analysis
Overview