Avpr1a
Homo sapiens
Gene Name: arginine vasopressin receptor 1A
Aliases:
Chromosome No: 12
Chromosome Band: 12q14.2
Genetic Category: Rare Single Gene variant, Genetic Association-Genetic Association-Rare single gene variant
Aliases:
Chromosome No: 12
Chromosome Band: 12q14.2
Genetic Category: Rare Single Gene variant, Genetic Association-Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 24
Recent Reports: 6
Annotated variants: 37
Associated CNVs: 0
Evidence score: 2
ASD Reports: 24
Recent Reports: 6
Annotated variants: 37
Associated CNVs: 0
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Several studies have found genetic association and rare variants in the AVPR1A gene that are identified with autism. Cohorts and populations studied include CLSA, US, Israeli and Korean, In addition, the AVPR1A gene has been found to be genetically associated with creative dance performance in an Israeli cohort. A recent study reported association of the RS3 allele and human maternal behavior (Avinun et al., 2012).
Molecular Function
The encoded protein is a receptor for arginine vasopressin. It belongs to the G -protein coupled receptor family.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills.
ASD
Positive Association
Family-based association study of microsatellites in the 5' flanking region of AVPR1A with autism spectrum disorder in the Korean population.
ASD
Positive Association
ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin-AVPR1A, AVPR1B, and OXTR.
ASD
ASD subphenotypes
Positive Association
Examination of AVPR1a as an autism susceptibility gene.
ASD
Positive Association
Association testing of vasopressin receptor 1a microsatellite polymorphisms in non-clinical autism spectrum phenotypes.
ALTs
AQ scores
Positive Association
Transmission disequilibrium testing of arginine vasopressin receptor 1A (AVPR1A) polymorphisms in autism.
ASD
Positive Association
A genome-wide approach to children's aggressive behavior: The EAGLE consortium.
Aggressive behavior in children
Positive Association
Association and Promoter Analysis of AVPR1A in Finnish Autism Families.
ASD
Positive Association
Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism.
ASD
Positive Association
Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders.
ASD
Positive Association
Replicative genetic association study between functional polymorphisms in AVPR1A and social behavior scales of autism spectrum disorder in the Kore...
ASD
Support
AVPR1A variation is linked to gray matter covariation in the social brain network of chimpanzees.
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans.
Support
Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings
ASD
Highly Cited
Increased affiliative response to vasopressin in mice expressing the V1a receptor from a monogamous vole.
Recent Recommendation
AVPR1A variant associated with preschoolers' lower altruistic behavior.
Recent Recommendation
AVPR1A sequence variation in monogamous owl monkeys (Aotus azarai) and its implications for the evolution of platyrrhine social behavior.
Recent Recommendation
Orally active vasopressin V1a receptor antagonist, SRX251, selectively blocks aggressive behavior.
Recent Recommendation
AVPR1a and SLC6A4 gene polymorphisms are associated with creative dance performance.
Recent Recommendation
Microsatellite instability generates diversity in brain and sociobehavioral traits.
Recent Recommendation
Human maternal behaviour is associated with arginine vasopressin receptor 1A gene.
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
GEN023C002
synonymous_variant
rs1042615
c.408T>C;c.417T>C
p.(=)
CLSA
Discovery
GEN023C009
2KB_upstream_variant
rs7294536
c.-3476A>G;c.-3153A>G
Korean
Discovery
GEN023C010
2KB_upstream_variant
rs10877969
c.-2623A>G;c.-2554-60A>G
Korean
Discovery
GEN023C011
microsatellite, 2KB_upstream_variant
N/A
N/A
Israeli
Discovery
GEN023C012
microsatellite, 2KB_upstream_variant
N/A
N/A
205 Finnish ASD families
Replication
GEN023C013
intergenic_variant
rs7307997
G>A
205 Finnish ASD families
Discovery
GEN023C014
microsatellite, 2KB_upstream_variant
N/A
N/A
Ireland ASD cohort: 177 families
Replication
GEN023C015
2KB_upstream_variant, 5_prime_UTR_variant
rs11174815
c.-2480C>T;c.-2471C>T
Ireland ASD cohort: 177 families
Discovery
GEN023C016
gene_variant
Total samples from the EAGLE consortium (N=18,988; all of Northern European ancestry)
Discovery
GEN023C017
microsatellite, 5KB_upstream_variant
873 Caucasian university students at two Canadian universities (575 females, 298 males)
Replication
GEN023C018
microsatellite, 2KB_upstream_variant
210 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
GEN023C019
microsatellite, 5KB_upstream_variant
210 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
GEN023C020
microsatellite, 2KB_upstream_variant
212 Korean ASD families with one proband (mean age, 97.72 56.42 months, 88.44% male)
Replication
GEN023C021
2KB_upstream_variant
rs10877969
c.-2623A>G;c.-2554-60A>G
212 Korean ASD families with one proband (mean age, 97.72 56.42 months, 88.44% male)
Replication
GEN023C022
2KB_upstream_variant
rs7294536
c.-3476A>G;c.-3153A>G
212 Korean ASD families with one proband (mean age, 97.72 56.42 months, 88.44% male)
Replication
