OXT
Homo sapiens
Gene Name: oxytocin/neurophysin I prepropeptide
Aliases: OT, OT-NPI-NPI,OXT
Chromosome No: 20
Chromosome Band: 20p13
Genetic Category: Genetic association-Rare single gene variant
Aliases: OT, OT-NPI-NPI,OXT
Chromosome No: 20
Chromosome Band: 20p13
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 6
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 6
Evidence score: 2
Gene Score: 4
Associated Disorders: |
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Relevance 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.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Arginine vasopressin and oxytocin modulate human social behavior.
ASD
Asperger syndrome
Positive Association
Variants in Adjacent Oxytocin/Vasopressin Gene Region and Associations with ASD Diagnosis and Other Autism Related Endophenotypes.
ASD
Positive Association
Associations between oxytocin-related genes and autistic-like traits.
ALTs
Positive Association
Genes controlling affiliative behavior as candidate genes for autism.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
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
GEN828C001
500B_downstream_variant
rs2770378
c.*450G>A
174 cases with Asperger syndrome, 155 population controls
Discovery
GEN828C002
intergenic_variant
rs2740204
151 families with 177 ASD probands (n=527)
Discovery
GEN828C003
500B_downstream_variant
rs2770378
c.*450G>A
1771 children (887 female, 884 male) from the Child and Adolescent Twin Study in Sweden (CATSS)
Discovery
GEN828C004
2_KB_upstream_variant
rs6084258
c.-1195G>A
207 probands (156 trios)
Discovery
GEN828C005
2_KB_upstream_variant
rs6133010
c.-2001A>G
207 probands (156 trios)
Discovery
GEN828C006
intron_variant
rs4813625
c.-90+120G>C
207 probands (156 trios)
Discovery
GEN828C007
intergenic_variant
rs2740204
207 probands (156 trios)
Replication