Related Experiment Video
Updated: Mar 13, 2026
11:46
Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer
Published on: May 26, 2014
23.8K
FOXP3 gene variations and susceptibility to autism: A case-control study
Mohammad Reza Safari1, Soudeh Ghafouri-Fard2, Rezvan Noroozi2
1Neurophysiology Research Center, Hamadan University of Medical Sciences, Hamadan, Iran.
Gene
|October 22, 2016
Summary
Genetic variants in the Forkhead Box P3 (FOXP3) gene are linked to Autism Spectrum Disorders (ASD). Specifically, the rs2232365 variant shows a significant association with ASD development.
Area of Science:
- Neuroimmunology
- Genetics
- Developmental Neuroscience
Background:
- Autism Spectrum Disorders (ASD) are complex neurodevelopmental conditions.
- Immune system dysregulation is implicated in ASD pathogenesis.
- The FOXP3 gene plays a crucial role in regulatory T cell development.
Purpose of the Study:
- To investigate the association between FOXP3 gene variants (rs2232365 and rs3761548) and ASD.
- To explore the potential role of these genetic variants in ASD susceptibility.
Main Methods:
- Case-control study design.
- Genotyping of FOXP3 variants rs2232365 and rs3761548 in 523 ASD patients and 472 controls.
- Allele frequency and genotype analyses, including dominant inheritance model and haplotype analysis.
Main Results:
- A significant overrepresentation of the rs2232365-G allele was observed in ASD cases compared to controls.
- The rs2232365 GG genotype was significantly associated with ASD under a dominant inheritance model.
- No significant association was found for any rs2232365/rs3761548 haplotype block with ASD.
Conclusions:
- The genetic variant rs2232365 of the FOXP3 gene is associated with Autism Spectrum Disorders.
- This finding suggests a potential genetic link between FOXP3 regulation and ASD pathophysiology.
Related Concept Videos
01:19Autism Spectrum Disorder
1.5K
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.
1.5K
02:26Comparing Copy Number Variations and SNPs
19.0K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
19.0K
01:33Pleiotropy
43.8K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.8K
01:05Single Nucleotide Polymorphisms-SNPs
19.4K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
19.4K
01:28Human Genetics
1.8K
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...
1.8K
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
61
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...
61