OXTR
Homo sapiens
Gene Name: oxytocin receptor
Aliases: OT-R
Chromosome No: 3
Chromosome Band: 3p25.3
Genetic Category: Genetic Association-Rare Single Gene variant-Functional-Genetic association/Functional-Rare single gene variant/Functional
Aliases: OT-R
Chromosome No: 3
Chromosome Band: 3p25.3
Genetic Category: Genetic Association-Rare Single Gene variant-Functional-Genetic association/Functional-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 52
Recent Reports: 15
Annotated variants: 54
Associated CNVs: 9
Evidence score: 0
ASD Reports: 52
Recent Reports: 15
Annotated variants: 54
Associated CNVs: 9
Evidence score: 0
| Associated Disorders: |
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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.
External Links
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
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
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
Negative Association
No Association between Polymorphisms of Vitamin D and Oxytocin Receptor Genes and Autistic Spectrum Disorder in a Sample of Turkish Children.
ASD
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
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...
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
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
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.
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.
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...
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN187C017
downstream_gene_variant
rs7632287
N/A
Irish, Portuguese, United Kingdom
Discovery
GEN187C019
intron_variant
rs2268493
c.923-5930A>G
T to C
AGRE, US (95% Caucasian)
Replication
GEN187C020
3_prime_UTR_variant
rs1042778
c.*118C>A
AGRE, US (95% Caucasian)
Replication
GEN187C021
downstream_gene_variant
rs7632287
N/A
AGRE, US (95% Caucasian)
Replication
GEN187C022
intron_variant
rs53576
c.922+4581T>C
N/A
93.8% Netherlands
Discovery
GEN187C023
missense_variant
rs35062132
c.1126C>G
c.Arg376Gly
132 Japanese ASD patients & 248 unrelated Japanese controls
Discovery
GEN187C024
downstream_gene_variant
rs7632287
Minor allele, A
Meta-analysis of 2769 ASD families from 4 independent samples (from Tansey et al., 2010 and Campbell et al., 2011)
Combined (meta-analysis)
GEN187C025
intron_variant
rs237887
c.923-2132C>T
Minor allele, G
Meta-analysis of 2984 ASD families and 280 cases/440 controls from 6 independent samples (from Liu et al., 2010a; Tansey et al., 2010; and Campbell et al., 2011)
Combined (meta-analysis)
GEN187C026
intron_variant
rs2268491
c.923-5488G>A
Minor allele, T
Meta-analysis of 2984 ASD families and 280 cases/440 controls from 6 independent samples (from Liu et al., 2010a; Tansey et al., 2010; and Campbell et al., 2011)
Combined (meta-analysis)
GEN187C027
intron_variant
rs2254298
c.922+6724C>T
Minor allele, A
Meta-analysis of 2900 ASD families and 280 cases/440 controls from 6 independent samples (from Wu et al., 2005; Jacob et al., 2007; Liu et al., 2010; Wermter et al., 2010; and Campbell et al., 2011)
Combined (meta-analysis)
GEN187C028
intron_variant
rs53576
c.922+4581T>C
G/A
79 children with ASD, 52 unaffected siblings, and 62 unrelated neurotypical control children, ages 3-12 yrs.
Replication
GEN187C029
intron_variant
rs2254298
c.922+6724C>T
G/A
79 children with ASD, 52 unaffected siblings, and 62 unrelated neurotypical control children, ages 3-12 yrs.
Replication
GEN187C030
intron_variant
rs2254298
c.922+6724C>T
G/A
79 children with ASD (47 with autism, 32 with PDD-NOS)
Replication
GEN187C031
intron_variant
rs2268493
c.923-5930A>G
C/T
118 Asperger syndrome cases (74 males, 44 females) and 412 controls (185 males, 227 females); all participants of Caucasian origin
Replication
GEN187C032
intron_variant
rs53576
c.922+4581T>C
734 subjects with DSM-IV psychotic spectrum disorders, 420 healthy controls
Discovery
GEN187C033
downstream_gene_variant
rs7632287
565 ASD probands from SSC
Replication
GEN187C034
500B_downstream_variant, 3_prime_UTR_variant
rs237884
c.*1078C>T
997 ASD probands from SSC
Discovery
GEN187C035
intron_variant
rs237889
c.922+6469A>G
Homberg sample of 178 cases: 135 complete parent-offspring trios, 29 parent child duos; 89% Male; 72.8% high-functioning ASD (IQ70). Meta-analysis sample: two previously published studies (Tansey et al., 2010; Campbell et al., 2011) and two previously unpublished German cohorts from PMID 26788924
Discovery
GEN187C036
intron_variant
rs237897
c.922+667T>C
Homberg sample of 178 cases: 135 complete parent-offspring trios, 29 parent child duos; 89% Male; 72.8% high-functioning ASD (IQ70)
Discovery
GEN187C037
intron_variant
rs2268493
c.923-5930A>G
207 families with an ASD proband (diagnosed using ADOS, ADI-R, and confirmed according to DSM-IV-TR) recruited through the Developmental Disorders Clinic of the University of Chicago (UIC) Institute of Juvenile Research
Replication
GEN187C038
intron_variant
rs2268493
c.923-5930A>G
207 families with an ASD proband (diagnosed using ADOS, ADI-R, and confirmed according to DSM-IV-TR) recruited through the Developmental Disorders Clinic of the University of Chicago (UIC) Institute of Juvenile Research
Replication
GEN187C039
missense_variant
rs4686302
c.652G>A
p.Ala218Thr
207 families with an ASD proband (diagnosed using ADOS, ADI-R, and confirmed according to DSM-IV-TR) recruited through the Developmental Disorders Clinic of the University of Chicago (UIC) Institute of Juvenile Research
Discovery
GEN187C040
intron_variant
rs2254298
c.922+6724C>T
207 families with an ASD proband (diagnosed using ADOS, ADI-R, and confirmed according to DSM-IV-TR) recruited through the Developmental Disorders Clinic of the University of Chicago (UIC) Institute of Juvenile Research
Replication
GEN187C041
3_prime_UTR_variant
rs1042778
c.*118C>A
207 families with an ASD proband (diagnosed using ADOS, ADI-R, and confirmed according to DSM-IV-TR) recruited through the Developmental Disorders Clinic of the University of Chicago (UIC) Institute of Juvenile Research
Replication
GEN187C042
intron_variant
rs2254298
c.922+6724C>T
100 Han Chinese ASD subjects
Replication
GEN187C043
intron_variant
rs53576
c.922+4581T>C
Cohort of 341 ASD probands (mean age 10.6 years) which included 211 Caucasian probands (mean age 11.3 3.8 years, 22.8 % female)
Replication
GEN187C044
intron_variant
rs2254298
c.922+6724C>T
Cohort of 341 ASD probands (mean age 10.6 years) which included 211 Caucasian probands (mean age 11.3 3.8 years, 22.8 % female)
Replication
GEN187C045
intron_variant
rs237887
c.923-2132C>T
Cohort of 341 ASD probands (mean age 10.6 years) consisting of 211 Caucasian probands (mean age 11.3 3.8 years, 22.8% female) and 130 non-Caucasian probands (mean age 9.8 4.0 years, 19.2% female)
Replication
GEN187C046
intron_variant
rs53576
c.922+4581T>C
Cohort of 193 Caucasian ADHD probands (mean age 10.7 2.8 years, 23.8% female)
Replication
GEN187C047
intron_variant
rs2254298
c.922+6724C>T
Cohort of 193 Caucasian ADHD probands (mean age 10.7 2.8 years, 23.8% female)
Replication
GEN187C048
2_KB_upstream_variant
rs2268498
c.-1733A>G;c.-1710A>G
537 mostly healthy, mostly Caucasian participants (154 males, 383 females; mean age 23.28 5.12 years) recruited from the Ulm Gene Brain Behavior Project (UGBBP)
Discovery
GEN187C049
2_KB_upstream_variant
rs2268498
c.-1733A>G;c.-1710A>G
280 mostly Han Chinese participants (189 males, 91 females; mean age 22.13 2.33 years) belonging to the Chengdu Gene Brain Behavior Project (CGBBP)
Replication
GEN187C050
synonymous_variant
rs237902
c.690C>T
p.(=)
100 Turkish children with ASD
Discovery
