Human Gene Module / Chromosome 3 / OXTR

OXTRoxytocin receptor

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
20 / 44
Rare Variants / Common Variants
1 / 43
Aliases
OXTR, OT-R
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation, Genetic Association, Functional
Chromosome Band
3p25.3
Associated Disorders
ASD
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.

Reports related to OXTR (44 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited Structure and expression of a human oxytocin receptor. Kimura T , et al. (1992) No -
2 Primary Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population. Wu S , et al. (2005) Yes -
3 Recent Recommendation Gonadal steroid modulation of stress-induced hypothalamo-pituitary-adrenal activity and anxiety behavior: role of central oxytocin. Windle RJ , et al. (2006) No -
4 Recent Recommendation Oxytocin receptor signaling in myoepithelial and cancer cells. Reversi A , et al. (2006) No -
5 Recent Recommendation CD38 is critical for social behaviour by regulating oxytocin secretion. Jin D , et al. (2007) No -
6 Positive Association Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism. Jacob S , et al. (2007) Yes -
7 Recent Recommendation G-protein coupled receptors & autism -- reflections on a double-edged sword at the example of the oxytocin receptor system. Rojas Walh RU (2007) No -
8 Positive Association Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition. Lerer E , et al. (2007) Yes -
9 Positive Association Genes controlling affiliative behavior as candidate genes for autism. Yrigollen CM , et al. (2008) Yes -
10 Recent Recommendation A conditional knockout mouse line of the oxytocin receptor. Lee HJ , et al. (2008) No -
11 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... Wermter AK , et al. (2009) Yes -
12 Support Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. Gregory SG , et al. (2009) Yes -
13 Positive Association Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population. Liu X , et al. (2010) Yes -
14 Negative Association Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies. Tansey KE , et al. (2010) Yes -
15 Recent Recommendation Association between the oxytocin receptor gene and amygdalar volume in healthy adults. Inoue H , et al. (2010) No -
16 Recent Recommendation Pharmacologic rescue of impaired cognitive flexibility, social deficits, increased aggression, and seizure susceptibility in oxytocin receptor null... Sala M , et al. (2011) No -
17 Positive Association Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder. Campbell DB , et al. (2011) Yes -
18 Recent Recommendation Oxytocin receptor gene associated with the efficiency of social auditory processing. Tops M , et al. (2011) No -
19 Recent Recommendation Variant in OXTR gene and functional connectivity of the hypothalamus in normal subjects. Wang J , et al. (2013) No -
20 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... Ma WJ , et al. (2013) Yes -
21 Support Neural correlate of autistic-like traits and a common allele in the oxytocin receptor gene. Saito Y , et al. (2013) No -
22 Recent Recommendation Common polymorphism in the oxytocin receptor gene (OXTR) is associated with human social recognition skills. Skuse DH , et al. (2013) No -
23 Recent Recommendation Possible association between the oxytocin receptor gene and N-acetylaspartate of the right medial temporal lobe in autism spectrum disorders. Egawa J , et al. (2014) No -
24 Recent Recommendation Association between the oxytocin receptor (OXTR) gene and mesolimbic responses to rewards. Damiano CR , et al. (2014) No -
25 Positive Association The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis. LoParo D and Waldman ID (2014) Yes -
26 Positive Association Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder. Parker KJ , et al. (2014) No -
27 Positive Association Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome. Di Napoli A , et al. (2014) Yes Asperger syndrome
28 Negative Association Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism. Nyffeler J , et al. (2014) Yes -
29 Positive Association Association between Genetic Variation in the Oxytocin Receptor Gene and Emotional Withdrawal, but not between Oxytocin Pathway Genes and Diagnosis ... Haram M , et al. (2015) No Emotional withdrawal
30 Recent Recommendation Hypomethylation of miR-142 promoter and upregulation of microRNAs that target the oxytocin receptor gene in the autism prefrontal cortex. Mor M , et al. (2015) No -
31 Positive Association Genetic variation in the oxytocin receptor gene is associated with a social phenotype in autism spectrum disorders. Harrison AJ , et al. (2015) Yes Social behavior, repetitive behavior
32 Positive Association Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder. Kranz TM , et al. (2016) Yes -
33 Support Variation in the oxytocin receptor gene (OXTR) is associated with differences in moral judgment. Bernhard RM , et al. (2016) No -
34 Recent Recommendation Prenatal stress exposure, oxytocin receptor gene (OXTR) methylation and child autistic traits: The moderating role of OXTR rs53576 genotype. Rijlaarsdam J , et al. (2016) No -
35 Positive Association ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin-AVPR1A, AVPR1B, and OXTR. Francis SM , et al. (2016) Yes ASD subphenotypes
36 Support Relationship of a common OXTR gene variant to brain structure and default mode network function in healthy humans. Wang J , et al. (2016) No -
37 Positive Association Serum Oxytocin Levels and an Oxytocin Receptor Gene Polymorphism (rs2254298) Indicate Social Deficits in Children and Adolescents with Autism Spect... Yang S , et al. (2017) Yes "Stereotypes and object use" subscale in the Autis
38 Positive Association Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders. Baribeau DA , et al. (2017) Yes Severity of social deficits
39 Positive Association A functional polymorphism of the OXTR gene is associated with autistic traits in Caucasian and Asian populations. Montag C , et al. (2017) No -
40 Positive Association The oxytocin receptor gene polymorphism -rs237902- is associated with the severity of autism spectrum disorder: A pilot study. Ocakolu FT , et al. (2018) Yes ASD severity (based on CARS scores)
41 Negative Association No Association between Polymorphisms of Vitamin D and Oxytocin Receptor Genes and Autistic Spectrum Disorder in a Sample of Turkish Children. Bozdogan ST , et al. (2018) Yes -
42 Support Oxytocin receptor knockout prairie voles generated by CRISPR/Cas9 editing show reduced preference for social novelty and exaggerated repetitive beh... Horie K , et al. (2019) No -
43 Highly Cited Alteration of the myometrial plasma membrane cholesterol content with beta-cyclodextrin modulates the binding affinity of the oxytocin receptor. Klein U , et al. (1995) No -
44 Highly Cited Inhibition of oxytocin receptor function by direct binding of progesterone. Grazzini E , et al. (1998) No -
Rare Variants   (1)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss Familial Maternal Multiplex 19845972 Gregory SG , et al. (2009)
Common Variants   (43)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.*1078C>T - 500B_downstream_variant, 3_prime_UTR_variant - - - 26365303 Harrison AJ , et al. (2015)
- - downstream_gene_variant - - - 20303388 Tansey KE , et al. (2010)
c.922+6724C>T - intron_variant - - - 28484366 Yang S , et al. (2017)
c.922+6724C>T G/A intron_variant - - - 15992526 Wu S , et al. (2005)
c.922+6724C>T - intron_variant - - - 17383819 Jacob S , et al. (2007)
c.922+4581T>C - intron_variant - - - 25667571 Haram M , et al. (2015)
c.922+667T>C - intron_variant - - - 26788924 Kranz TM , et al. (2016)
- - downstream_gene_variant - - - 26365303 Harrison AJ , et al. (2015)
c.922+6724C>T G/A intron_variant - - - 20094064 Liu X , et al. (2010)
c.923-2132C>T N/A intron_variant - - - 20094064 Liu X , et al. (2010)
c.*118C>A - 3_prime_UTR_variant - - - 17893705 Lerer E , et al. (2007)
c.922+6469A>G - intron_variant - - - 26788924 Kranz TM , et al. (2016)
- N/A downstream_gene_variant - - - 20303388 Tansey KE , et al. (2010)
c.922+4581T>C N/A intron_variant - - - 22069391 Tops M , et al. (2011)
c.922+4581T>C G to A intron_variant - - - 15992526 Wu S , et al. (2005)
c.922+6724C>T - intron_variant - - - 27920663 Francis SM , et al. (2016)
c.923-5930A>G - intron_variant - - - 27920663 Francis SM , et al. (2016)
- C to G upstream_gene_variant - - - 19777562 Wermter AK , et al. (2009)
- N/A downstream_gene_variant - - - 21484202 Campbell DB , et al. (2011)
c.922+1417C>T G to A intron_variant - - - 20094064 Liu X , et al. (2010)
c.923-5488G>A C to T intron_variant - - - 20094064 Liu X , et al. (2010)
c.*118C>A - 3_prime_UTR_variant - - - 27920663 Francis SM , et al. (2016)
c.922+4581T>C - intron_variant - - - 28912494 Baribeau DA , et al. (2017)
c.922+6724C>T - intron_variant - - - 28912494 Baribeau DA , et al. (2017)
c.923-2132C>T - intron_variant - - - 28912494 Baribeau DA , et al. (2017)
c.-238-131C>G N/A intron_variant - - - 20303388 Tansey KE , et al. (2010)
c.922+4581T>C G/A intron_variant - - - 25092315 Parker KJ , et al. (2014)
c.922+6724C>T G/A intron_variant - - - 25092315 Parker KJ , et al. (2014)
c.*118C>A - 3_prime_UTR_variant - - - 21484202 Campbell DB , et al. (2011)
c.922+6906A>T A to T intron_variant - - - 17893705 Lerer E , et al. (2007)
c.923-3676G>A C to T intron_variant - - - 17893705 Lerer E , et al. (2007)
c.1126C>G c.Arg376Gly missense_variant - - - 23815867 Ma WJ , et al. (2013)
c.*939G>T A to C 3_prime_UTR_variant - - - 17893705 Lerer E , et al. (2007)
c.690C>T p.(=) synonymous_variant - - - 29428512 Ocakolu FT , et al. (2018)
c.923-5930A>G C/T intron_variant - - - 25264479 Di Napoli A , et al. (2014)
c.923-5930A>G T to C intron_variant - - - 21484202 Campbell DB , et al. (2011)
c.652G>A p.Ala218Thr missense_variant - - - 27920663 Francis SM , et al. (2016)
c.923-5930A>G T to C intron_variant - - - 18207134 Yrigollen CM , et al. (2008)
c.-1733A>G;c.-1710A>G - 2_KB_upstream_variant - - - 29027364 Montag C , et al. (2017)
- Minor allele, A downstream_gene_variant - - - 25092245 LoParo D and Waldman ID (2014)
c.922+6724C>T Minor allele, A intron_variant - - - 25092245 LoParo D and Waldman ID (2014)
c.923-2132C>T Minor allele, G intron_variant - - - 25092245 LoParo D and Waldman ID (2014)
c.923-5488G>A Minor allele, T intron_variant - - - 25092245 LoParo D and Waldman ID (2014)
SFARI Gene score
3

Suggestive Evidence

3

Score Delta: Increased from 3 to 4.3 + acc1

3

Suggestive Evidence

See all Category 3 Genes

The literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.

10/1/2017
3
icon
3

Increased from 3 to 3

Description

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. In addition, association has been found with social cognition and through methylation and expression data.

4/1/2017
3
icon
3

Increased from 3 to 3

Description

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. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added
[Neural correlate of autistic-like traits and a common allele in the oxytocin receptor gene.2013] [Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder.2014] [Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population.2005] [Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism.2007] [Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition.2007] [Genes controlling affiliative behavior as candidate genes for autism.2008] [Evidence for the involvement of genetic variation in the oxytocin receptor gene (OXTR) in the etiology of autistic disorders on high-functioning le...2009] [Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.2009] [Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population.2010] [Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies.2010] [Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder.2011] [Non-synonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case-control study in a Japanese p...2013] [The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis.2014] [Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome.2014] [Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism.2014] [Association between Genetic Variation in the Oxytocin Receptor Gene and Emotional Withdrawal, but not between Oxytocin Pathway Genes and Diagnosis ...2015] [Structure and expression of a human oxytocin receptor.1992] [Alteration of the myometrial plasma membrane cholesterol content with beta-cyclodextrin modulates the binding affinity of the oxytocin receptor.1995] [Inhibition of oxytocin receptor function by direct binding of progesterone.1998] [Gonadal steroid modulation of stress-induced hypothalamo-pituitary-adrenal activity and anxiety behavior: role of central oxytocin.2006] [Oxytocin receptor signaling in myoepithelial and cancer cells.2006] [CD38 is critical for social behaviour by regulating oxytocin secretion.2007] [G-protein coupled receptors & autism -- reflections on a double-edged sword at the example of the oxytocin receptor system.2007] [A conditional knockout mouse line of the oxytocin receptor.2008] [Association between the oxytocin receptor gene and amygdalar volume in healthy adults.2010] [Pharmacologic rescue of impaired cognitive flexibility, social deficits, increased aggression, and seizure susceptibility in oxytocin receptor null...2011] [Oxytocin receptor gene associated with the efficiency of social auditory processing.2011] [Variant in OXTR gene and functional connectivity of the hypothalamus in normal subjects.2013] [Common polymorphism in the oxytocin receptor gene (OXTR) is associated with human social recognition skills.2013] [Possible association between the oxytocin receptor gene and N-acetylaspartate of the right medial temporal lobe in autism spectrum disorders.2014] [Association between the oxytocin receptor (OXTR) gene and mesolimbic responses to rewards.2014] [Hypomethylation of miR-142 promoter and upregulation of microRNAs that target the oxytocin receptor gene in the autism prefrontal cortex.2015] [Genetic variation in the oxytocin receptor gene is associated with a social phenotype in autism spectrum disorders.2015] [Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder.2016] [Variation in the oxytocin receptor gene (OXTR) is associated with differences in moral judgment.2016] [Prenatal stress exposure, oxytocin receptor gene (OXTR) methylation and child autistic traits: The moderating role of OXTR rs53576 genotype.2016] [ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin-AVPR1A, AVPR1B, and OXTR.2016] [Relationship of a common OXTR gene variant to brain structure and default mode network function in healthy humans.2016] [Serum Oxytocin Levels and an Oxytocin Receptor Gene Polymorphism (rs2254298) Indicate Social Deficits in Children and Adolescents with Autism Spect...2017]
1/1/2017
3
icon
3

Increased from 3 to 3

Description

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. In addition, association has been found with social cognition and through methylation and expression data.

7/1/2016
3
icon
3

Increased from 3 to 3

Description

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. In addition, association has been found with social cognition and through methylation and expression data.

1/1/2016
3
icon
3

Increased from 3 to 3

Description

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. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added
[Neural correlate of autistic-like traits and a common allele in the oxytocin receptor gene.2013] [Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder.2014] [Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population.2005] [Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism.2007] [Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition.2007] [Genes controlling affiliative behavior as candidate genes for autism.2008] [Evidence for the involvement of genetic variation in the oxytocin receptor gene (OXTR) in the etiology of autistic disorders on high-functioning le...2009] [Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.2009] [Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population.2010] [Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies.2010] [Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder.2011] [Non-synonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case-control study in a Japanese p...2013] [The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis.2014] [Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome.2014] [Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism.2014] [Association between Genetic Variation in the Oxytocin Receptor Gene and Emotional Withdrawal, but not between Oxytocin Pathway Genes and Diagnosis ...2015] [Structure and expression of a human oxytocin receptor.1992] [Alteration of the myometrial plasma membrane cholesterol content with beta-cyclodextrin modulates the binding affinity of the oxytocin receptor.1995] [Inhibition of oxytocin receptor function by direct binding of progesterone.1998] [Gonadal steroid modulation of stress-induced hypothalamo-pituitary-adrenal activity and anxiety behavior: role of central oxytocin.2006] [Oxytocin receptor signaling in myoepithelial and cancer cells.2006] [CD38 is critical for social behaviour by regulating oxytocin secretion.2007] [G-protein coupled receptors & autism -- reflections on a double-edged sword at the example of the oxytocin receptor system.2007] [A conditional knockout mouse line of the oxytocin receptor.2008] [Association between the oxytocin receptor gene and amygdalar volume in healthy adults.2010] [Pharmacologic rescue of impaired cognitive flexibility, social deficits, increased aggression, and seizure susceptibility in oxytocin receptor null...2011] [Oxytocin receptor gene associated with the efficiency of social auditory processing.2011] [Variant in OXTR gene and functional connectivity of the hypothalamus in normal subjects.2013] [Common polymorphism in the oxytocin receptor gene (OXTR) is associated with human social recognition skills.2013] [Possible association between the oxytocin receptor gene and N-acetylaspartate of the right medial temporal lobe in autism spectrum disorders.2014] [Association between the oxytocin receptor (OXTR) gene and mesolimbic responses to rewards.2014] [Hypomethylation of miR-142 promoter and upregulation of microRNAs that target the oxytocin receptor gene in the autism prefrontal cortex.2015] [Genetic variation in the oxytocin receptor gene is associated with a social phenotype in autism spectrum disorders.2015] [Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder.2016]
7/1/2015
3
icon
3

Increased from 3 to 3

Description

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. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added
[Neural correlate of autistic-like traits and a common allele in the oxytocin receptor gene.2013] [Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder.2014] [Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population.2005] [Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism.2007] [Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition.2007] [Genes controlling affiliative behavior as candidate genes for autism.2008] [Evidence for the involvement of genetic variation in the oxytocin receptor gene (OXTR) in the etiology of autistic disorders on high-functioning le...2009] [Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.2009] [Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population.2010] [Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies.2010] [Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder.2011] [Non-synonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case-control study in a Japanese p...2013] [The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis.2014] [Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome.2014] [Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism.2014] [Association between Genetic Variation in the Oxytocin Receptor Gene and Emotional Withdrawal, but not between Oxytocin Pathway Genes and Diagnosis ...2015] [Structure and expression of a human oxytocin receptor.1992] [Alteration of the myometrial plasma membrane cholesterol content with beta-cyclodextrin modulates the binding affinity of the oxytocin receptor.1995] [Inhibition of oxytocin receptor function by direct binding of progesterone.1998] [Gonadal steroid modulation of stress-induced hypothalamo-pituitary-adrenal activity and anxiety behavior: role of central oxytocin.2006] [Oxytocin receptor signaling in myoepithelial and cancer cells.2006] [CD38 is critical for social behaviour by regulating oxytocin secretion.2007] [G-protein coupled receptors & autism -- reflections on a double-edged sword at the example of the oxytocin receptor system.2007] [A conditional knockout mouse line of the oxytocin receptor.2008] [Association between the oxytocin receptor gene and amygdalar volume in healthy adults.2010] [Pharmacologic rescue of impaired cognitive flexibility, social deficits, increased aggression, and seizure susceptibility in oxytocin receptor null...2011] [Oxytocin receptor gene associated with the efficiency of social auditory processing.2011] [Variant in OXTR gene and functional connectivity of the hypothalamus in normal subjects.2013] [Common polymorphism in the oxytocin receptor gene (OXTR) is associated with human social recognition skills.2013] [Possible association between the oxytocin receptor gene and N-acetylaspartate of the right medial temporal lobe in autism spectrum disorders.2014] [Association between the oxytocin receptor (OXTR) gene and mesolimbic responses to rewards.2014] [Hypomethylation of miR-142 promoter and upregulation of microRNAs that target the oxytocin receptor gene in the autism prefrontal cortex.2015]
1/1/2015
3
icon
3

Increased from 3 to 3

Description

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. In addition, association has been found with social cognition and through methylation and expression data.

10/1/2014
3
icon
3

Increased from 3 to 3

Description

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. In addition, association has been found with social cognition and through methylation and expression data.

7/1/2014
No data
icon
3

Increased from No data to 3

Description

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. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added
[Structure and expression of a human oxytocin receptor.1992] [Alteration of the myometrial plasma membrane cholesterol content with beta-cyclodextrin modulates the binding affinity of the oxytocin receptor.1995] [Inhibition of oxytocin receptor function by direct binding of progesterone.1998] [Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population.2005] [Gonadal steroid modulation of stress-induced hypothalamo-pituitary-adrenal activity and anxiety behavior: role of central oxytocin.2006] [Oxytocin receptor signaling in myoepithelial and cancer cells.2006] [CD38 is critical for social behaviour by regulating oxytocin secretion.2007] [Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism.2007] [G-protein coupled receptors & autism -- reflections on a double-edged sword at the example of the oxytocin receptor system.2007] [Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition.2007] [Genes controlling affiliative behavior as candidate genes for autism.2008] [A conditional knockout mouse line of the oxytocin receptor.2008] [Evidence for the involvement of genetic variation in the oxytocin receptor gene (OXTR) in the etiology of autistic disorders on high-functioning le...2009] [Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.2009] [Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population.2010] [Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies.2010] [Association between the oxytocin receptor gene and amygdalar volume in healthy adults.2010] [Pharmacologic rescue of impaired cognitive flexibility, social deficits, increased aggression, and seizure susceptibility in oxytocin receptor null...2011] [Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder.2011] [Oxytocin receptor gene associated with the efficiency of social auditory processing.2011] [Variant in OXTR gene and functional connectivity of the hypothalamus in normal subjects.2013] [Non-synonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case-control study in a Japanese p...2013] [Neural correlate of autistic-like traits and a common allele in the oxytocin receptor gene.2013] [Common polymorphism in the oxytocin receptor gene (OXTR) is associated with human social recognition skills.2013] [Possible association between the oxytocin receptor gene and N-acetylaspartate of the right medial temporal lobe in autism spectrum disorders.2014] [Association between the oxytocin receptor (OXTR) gene and mesolimbic responses to rewards.2014] [The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis.2014] [Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder.2014]
4/1/2014
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3

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Description

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. In addition, association has been found with social cognition and through methylation and expression data.

Krishnan Probability Score

Score 0.49255038812638

Ranking 4494/25841 scored genes


[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
ExAC Score

Score 5.7432273989359E-5

Ranking 13391/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Sanders TADA Score

Score 0.92460741899387

Ranking 10026/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Larsen Cumulative Evidence Score

Score 43.25

Ranking 44/461 scored genes


[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size, and variant frequency in the general population. The approach was first presented in Mol Autism 7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from that paper.
Zhang D Score

Score 0.21037770439889

Ranking 4106/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
CNVs associated with OXTR(1 CNVs)
3p25.3 19 Deletion-Duplication 31  /  89
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
MIR21 microRNA 21 Human Direct Regulation 406991 N/A
MIR451A microRNA 451a Human Direct Regulation 574411
OXT oxytocin, prepropeptide Human Protein Binding 5020 P01178
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