OXToxytocin/neurophysin I prepropeptide
Autism Reports / Total Reports
4 / 5Rare Variants / Common Variants
1 / 7Aliases
OXT, OT, OT-NPI-NPI, OXTAssociated Syndromes
-Chromosome Band
20p13Associated Disorders
ASDRelevance to Autism
OXT polymorphisms have been found to associate with a diagnosis of ASD (Chakrabarti et al., 2009; Francis et al., 2016), ASD subphenotypes (Yrigollen et al., 2008; Francis et al., 2016), and autistic-like traits in the general population (Hovey et al., 2014).
Molecular Function
This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a hormone involved in a number of processses, including contraction of smooth muscle during parturition and lactation, cognition, tolerance, adaptation, complex sexual and maternal behaviour, and the regulation of water excretion and cardiovascular functions.
External Links
SFARI Genomic Platforms
Reports related to OXT (5 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Positive Association | Genes controlling affiliative behavior as candidate genes for autism | Yrigollen CM , et al. (2008) | Yes | - |
2 | Primary | Arginine vasopressin and oxytocin modulate human social behavior | Ebstein RP , et al. (2009) | Yes | Asperger syndrome |
3 | Positive Association | Associations between oxytocin-related genes and autistic-like traits | Hovey D , et al. (2014) | No | - |
4 | Positive Association | Variants in Adjacent Oxytocin/Vasopressin Gene Region and Associations with ASD Diagnosis and Other Autism Related Endophenotypes | Francis SM , et al. (2016) | Yes | - |
5 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
Rare Variants (1)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.322+2T>C | - | splice_site_variant | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) |
Common Variants (7)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | intergenic_variant | - | - | - | 27242401 | Francis SM , et al. (2016) | |
- | - | intergenic_variant | - | - | - | 18207134 | Yrigollen CM , et al. (2008) | |
c.-90+120G>C | - | intron_variant | - | - | - | 27242401 | Francis SM , et al. (2016) | |
c.*450G>A | - | 500B_downstream_variant | - | - | - | 24635660 | Hovey D , et al. (2014) | |
c.-1195G>A | - | 2_KB_upstream_variant | - | - | - | 27242401 | Francis SM , et al. (2016) | |
c.-2001A>G | - | 2_KB_upstream_variant | - | - | - | 27242401 | Francis SM , et al. (2016) | |
c.*450G>A | - | 500B_downstream_variant | - | - | - | 19598235 | Chakrabarti B , et al. (2009) |
SFARI Gene score
Strong Candidate


OXT polymorphisms have been found to associate with a diagnosis of ASD (Chakrabarti et al., 2009; Francis et al., 2016), ASD subphenotypes (Yrigollen et al., 2008; Francis et al., 2016), and autistic-like traits in the general population (Hovey et al., 2014).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022

Decreased from 3 to 2
Description
OXT polymorphisms have been found to associate with a diagnosis of ASD (Chakrabarti et al., 2009; Francis et al., 2016), ASD subphenotypes (Yrigollen et al., 2008; Francis et al., 2016), and autistic-like traits in the general population (Hovey et al., 2014).
10/1/2019

Decreased from 4 to 3
New Scoring Scheme
Description
OXT polymorphisms have been found to associate with a diagnosis of ASD (Chakrabarti et al., 2009; Francis et al., 2016), ASD subphenotypes (Yrigollen et al., 2008; Francis et al., 2016), and autistic-like traits in the general population (Hovey et al., 2014).
Reports Added
[New Scoring Scheme]7/1/2019

Decreased from 4 to 4
Description
OXT polymorphisms have been found to associate with a diagnosis of ASD (Chakrabarti et al., 2009; Francis et al., 2016), ASD subphenotypes (Yrigollen et al., 2008; Francis et al., 2016), and autistic-like traits in the general population (Hovey et al., 2014).
7/1/2016

Increased from to 4
Description
OXT polymorphisms have been found to associate with a diagnosis of ASD (Chakrabarti et al., 2009; Francis et al., 2016), ASD subphenotypes (Yrigollen et al., 2008; Francis et al., 2016), and autistic-like traits in the general population (Hovey et al., 2014).
Krishnan Probability Score
Score 0.45547602359786
Ranking 10022/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.62795746033166
Ranking 4863/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.90778025832886
Ranking 7243/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.11942273828891
Ranking 13112/20870 scored genes
[Show Scoring Methodology]