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Relevance to Autism

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. Genetic association has also been found between OXTR and lower levels of difficulty hearing and understanding people in noisy environments (Tops et al., 2011).

Molecular Function

The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system.

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population.
ASD
Positive Association
Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism.
ASD
Positive Association
Non-synonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case-control study in a Japanese p...
ASD
Positive Association
Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder.
ASD
Positive Association
Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder.
ASD
Positive Association
Genetic variation in the oxytocin receptor gene is associated with a social phenotype in autism spectrum disorders.
ASD
Social behavior, repetitive behavior
Positive Association
The oxytocin receptor gene polymorphism -rs237902- is associated with the severity of autism spectrum disorder: A pilot study.
ASD
ASD severity (based on CARS scores)
Positive Association
Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population.
ASD
Positive Association
Association between Genetic Variation in the Oxytocin Receptor Gene and Emotional Withdrawal, but not between Oxytocin Pathway Genes and Diagnosis ...
Psychotic spectrum disorders
Emotional withdrawal
Positive Association
A functional polymorphism of the OXTR gene is associated with autistic traits in Caucasian and Asian populations.
ALTs
Positive Association
Evidence for the involvement of genetic variation in the oxytocin receptor gene (OXTR) in the etiology of autistic disorders on high-functioning le...
ASD
Positive Association
Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome.
ASD
Asperger syndrome
Positive Association
Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders.
ASD, ADHD
Severity of social deficits
Positive Association
Genes controlling affiliative behavior as candidate genes for autism.
ASD
Positive Association
Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder.
ALTs
Positive Association
Serum Oxytocin Levels and an Oxytocin Receptor Gene Polymorphism (rs2254298) Indicate Social Deficits in Children and Adolescents with Autism Spect...
ASD
"Stereotypes and object use" subscale in the Autis
Positive Association
Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition.
ASD
Positive Association
The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis.
ASD
Positive Association
ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin-AVPR1A, AVPR1B, and OXTR.
ASD
ASD subphenotypes
Negative Association
Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism.
ASD
Negative Association
Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies.
ASD
Negative Association
No Association between Polymorphisms of Vitamin D and Oxytocin Receptor Genes and Autistic Spectrum Disorder in a Sample of Turkish Children.
ASD
Support
R150S mutation in the human oxytocin receptor: Gain-of-function effects and implication in autism spectrum disorder
ASD
Support
Relationship of a common OXTR gene variant to brain structure and default mode network function in healthy humans.
Support
Integrating de novo and inherited variants in 42
ASD
Support
Variation in the oxytocin receptor gene (OXTR) is associated with differences in moral judgment.
Support
Structure-function relationships of the disease-linked A218T oxytocin receptor variant
ASD
ASD subphenotypes
Support
Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals
ASD
Support
Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings
ASD
Support
Neural correlate of autistic-like traits and a common allele in the oxytocin receptor gene.
ALTs
Support
Imaging-genetics of sex differences in ASD: distinct effects of OXTR variants on brain connectivity.
Support
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
ASD
Support
A common variant in OXTR rs53576 impacts topological patterns of brain functional networks.
Support
Oxytocin receptor knockout prairie voles generated by CRISPR/Cas9 editing show reduced preference for social novelty and exaggerated repetitive beh...
Highly Cited
Inhibition of oxytocin receptor function by direct binding of progesterone.
Highly Cited
Alteration of the myometrial plasma membrane cholesterol content with beta-cyclodextrin modulates the binding affinity of the oxytocin receptor.
Highly Cited
Structure and expression of a human oxytocin receptor.
Recent Recommendation
CD38 is critical for social behaviour by regulating oxytocin secretion.
Recent Recommendation
Variant in OXTR gene and functional connectivity of the hypothalamus in normal subjects.
Recent recommendation
Epigenetic modification of the oxytocin receptor gene: implications for autism symptom severity and brain functional connectivity.
Recent Recommendation
Oxytocin receptor signaling in myoepithelial and cancer cells.
Recent Recommendation
Oxytocin receptor gene associated with the efficiency of social auditory processing.
Recent Recommendation
Prenatal stress exposure, oxytocin receptor gene (OXTR) methylation and child autistic traits: The moderating role of OXTR rs53576 genotype.
Recent Recommendation
Gonadal steroid modulation of stress-induced hypothalamo-pituitary-adrenal activity and anxiety behavior: role of central oxytocin.
Recent Recommendation
Pharmacologic rescue of impaired cognitive flexibility, social deficits, increased aggression, and seizure susceptibility in oxytocin receptor null...
Recent Recommendation
Hypomethylation of miR-142 promoter and upregulation of microRNAs that target the oxytocin receptor gene in the autism prefrontal cortex.
Recent Recommendation
Association between the oxytocin receptor gene and amygdalar volume in healthy adults.
Recent Recommendation
Association between the oxytocin receptor (OXTR) gene and mesolimbic responses to rewards.
Recent Recommendation
A conditional knockout mouse line of the oxytocin receptor.
Recent Recommendation
Possible association between the oxytocin receptor gene and N-acetylaspartate of the right medial temporal lobe in autism spectrum disorders.
Recent Recommendation
G-protein coupled receptors & autism -- reflections on a double-edged sword at the example of the oxytocin receptor system.
Recent Recommendation
Common polymorphism in the oxytocin receptor gene (OXTR) is associated with human social recognition skills.
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN187R001 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN187R002 
 missense_variant 
 c.1126C>G 
 p.Arg376Gly 
 Familial 
 Maternal 
  
 GEN187R003 
 missense_variant 
 c.121G>T 
 p.Val41Leu 
 De novo 
  
  
 GEN187R004 
 missense_variant 
 c.448C>A 
 p.Arg150Ser 
 Unknown 
  
 Unknown 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 20
 
3
Deletion
 1
 
3
Duplication
 3
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 2
 
3
Deletion
 3
 
3
Duplication
 1
 

Model Summary

OXTR plays a critical role in regulating several aspects of social behavior and may have important implications for developmental psychiatric disorders characterized by deficits in social behavior.

References

Type
Title
Author, Year
Primary
Pervasive social deficits, but normal parturition, in oxytocin receptor-deficient mice.
Additional
A conditional knockout mouse line of the oxytocin receptor.
Additional
Oxytocin receptor-deficient mice developed late-onset obesity.
Additional
Pharmacologic rescue of impaired cognitive flexibility, social deficits, increased aggression, and seizure susceptibility in oxytocin receptor null...
Additional
Oxytocin receptor knockout mice display deficits in the expression of autism-related behaviors.
Primary
Social reward requires coordinated activity of nucleus accumbens oxytocin and serotonin.
Additional
Mechanisms Underlying Microbial-Mediated Changes in Social Behavior in Mouse Models of Autism Spectrum Disorder.
Model Type: Genetic
Model Genotype: Homozygous
Mutation: A targeting vector with PGK-Neo cassette inserted into intron 3 along with three loxP sites around exons 2 and 3 and the PGK-Neo.
Allele Type: Targeted (knock-out)
Strain of Origin: 129P2/OlaHsd
Genetic Background: 129P2/OlaHsd * C57BL/6J
ES Cell Line: E14TG2a
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Increased
 Distance traveled in a grid
 P7
Seizures2
Increased
 Electroencephalogram (eeg)
 12-16 weeks
Social memory1
Abnormal
 Social recognition test
 4-7 months
Aggression1
Increased
 Resident-intruder test
 10 weeks
Social memory2
Decreased
 Three-chamber social approach test
 12-16 weeks
Social interaction2
Decreased
 Three-chamber social approach test
 12-16 weeks
Aggression2
Increased
 Resident-intruder test
 12-16 weeks
Ultrasonic vocalization1
Decreased
 Monitoring ultrasonic vocalizations
 P7
Cognitive flexibility2
Decreased
 T-maze test
 12-16 weeks
Pup retrieval1
Abnormal
 General observations
 Adult
Nursing/lactation1
Abnormal
 General observations
 Adult
Maternal nurturing1
Abnormal
 General observations
 Adult
General characteristics1
 No change
 Genotypic ratio of progeny from heterozygous parents
 P0
Reproductive system development1
 No change
 General observations
 Adult
Anxiety2
 No change
 Open field test
 12-16 weeks
Depression2
 No change
 NA
 12-16 weeks
General locomotor activity2
 No change
 Open field test
 12-16 weeks
Seizures2
 No change
 Electroencephalogram (eeg)
 12-16 weeks
Olfaction2
 No change
 NA
 12-16 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory



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