Related Experiment Video
Updated: Jun 24, 2026
07:41
Video Imaging and Spatiotemporal Maps to Analyze Gastrointestinal Motility in Mice
Published on: February 3, 2016
Association between a GABRB3 polymorphism and autism
J D Buxbaum1, J M Silverman, C J Smith
1Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA.
Molecular Psychiatry
|March 29, 2002
Summary
Genetic variants in the GABRB3 gene region on chromosome 15q11-13 are associated with autistic disorder. This finding supports a role for GABA receptor genes in autism spectrum disorder etiology.
Area of Science:
- Genetics
- Neuroscience
- Developmental Disorders
Background:
- Autistic disorder has a complex genetic basis.
- Cytogenetic abnormalities in the 15q11-13 region are linked to autism.
- Previous studies showed mixed results for the GABRB3 gene marker (155CA-2).
Purpose of the Study:
- To investigate the association between autistic disorder and genetic markers in the 15q11-13 region.
- To analyze the GABRB3 gene marker (155CA-2) and nearby markers using family-based association analysis.
Main Methods:
- Conducted a transmission disequilibrium test (TDT) and multi-allelic TDT (MTDT) on 80 autism families.
- Analyzed the GABRB3 marker (155CA-2) and four additional markers within 150 kb.
- Excluded meiotic segregation distortion by analyzing unaffected siblings.
Main Results:
- Significant association found between autistic disorder and the 155CA-2 marker (P < 0.004 for TDT, P < 0.002 for MTDT).
- No significant disequilibrium observed in unaffected siblings, ruling out segregation distortion.
Conclusions:
- Genetic variants within the GABRB3 gene in the 15q11-13 region play a role in autistic disorder.
- These findings highlight the GABA receptor gene complex as a potential contributor to autism etiology.
Related Concept Videos
01:35Pedigree Analysis
Overview
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...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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...
01:19Autism 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.