AVPR1Aarginine vasopressin receptor 1A
Autism Reports / Total Reports
13 / 24Rare Variants / Common Variants
10 / 21Aliases
-Associated Syndromes
-Chromosome Band
12q14.2Associated Disorders
ASDRelevance 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
SFARI Genomic Platforms
Reports related to AVPR1A (24 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Highly Cited | Increased affiliative response to vasopressin in mice expressing the V1a receptor from a monogamous vole | Young LJ , et al. (1999) | No | - |
| 2 | Positive Association | Transmission disequilibrium testing of arginine vasopressin receptor 1A (AVPR1A) polymorphisms in autism | Kim SJ , et al. (2002) | Yes | - |
| 3 | Positive Association | Examination of AVPR1a as an autism susceptibility gene | Wassink TH , et al. (2004) | Yes | - |
| 4 | Recent Recommendation | Microsatellite instability generates diversity in brain and sociobehavioral traits | Hammock EA and Young LJ (2005) | No | - |
| 5 | Recent Recommendation | AVPR1a and SLC6A4 gene polymorphisms are associated with creative dance performance | Bachner-Melman R , et al. (2005) | No | - |
| 6 | Recent Recommendation | Orally active vasopressin V1a receptor antagonist, SRX251, selectively blocks aggressive behavior | Ferris CF , et al. (2006) | No | - |
| 7 | Primary | Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills | Yirmiya N , et al. (2006) | Yes | - |
| 8 | Support | Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans | Meyer-Lindenberg A , et al. (2008) | No | - |
| 9 | Positive Association | Family-based association study of microsatellites in the 5' flanking region of AVPR1A with autism spectrum disorder in the Korean population | Yang SY , et al. (2010) | Yes | - |
| 10 | Positive Association | Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders | Yang SY , et al. (2010) | Yes | - |
| 11 | Recent Recommendation | AVPR1A sequence variation in monogamous owl monkeys (Aotus azarai) and its implications for the evolution of platyrrhine social behavior | Babb PL , et al. (2010) | No | - |
| 12 | Positive Association | Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism | Tansey KE , et al. (2011) | Yes | - |
| 13 | Recent Recommendation | AVPR1A variant associated with preschoolers' lower altruistic behavior | Avinun R , et al. (2011) | No | - |
| 14 | Recent Recommendation | Human maternal behaviour is associated with arginine vasopressin receptor 1A gene | Avinun R , et al. (2012) | No | - |
| 15 | Positive Association | Association and Promoter Analysis of AVPR1A in Finnish Autism Families | Kantojrvi K , et al. (2015) | Yes | - |
| 16 | Positive Association | A genome-wide approach to children's aggressive behavior: The EAGLE consortium | Pappa I , et al. (2015) | No | - |
| 17 | Positive Association | Association testing of vasopressin receptor 1a microsatellite polymorphisms in non-clinical autism spectrum phenotypes | Procyshyn TL , et al. (2016) | No | AQ scores |
| 18 | Positive Association | ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin- AVPR1A, AVPR1B, and OXTR | Francis SM , et al. (2016) | Yes | ASD subphenotypes |
| 19 | Support | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) | Yes | - |
| 20 | Positive Association | Replicative genetic association study between functional polymorphisms in AVPR1A and social behavior scales of autism spectrum disorder in the Korean population | Yang SY , et al. (2017) | Yes | - |
| 21 | Support | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder | Takata A , et al. (2018) | Yes | - |
| 22 | Support | Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort | Wu H , et al. (2019) | Yes | Macrocephaly |
| 23 | Support | AVPR1A variation is linked to gray matter covariation in the social brain network of chimpanzees | Mulholland MM , et al. (2020) | No | - |
| 24 | Support | - | Ohashi K et al. (2021) | Yes | - |
Rare Variants (10)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | 5_prime_UTR_variant | - | - | - | 12082568 | Kim SJ , et al. (2002) | |
| - | - | 2KB_upstream_variant | - | - | - | 12082568 | Kim SJ , et al. (2002) | |
| - | p.(=) | synonymous_variant | - | - | - | 12082568 | Kim SJ , et al. (2002) | |
| G>A | - | 2KB_upstream_variant | - | - | - | 12082568 | Kim SJ , et al. (2002) | |
| c.16G>A | p.Gly6Ser | missense_variant | - | - | - | 12082568 | Kim SJ , et al. (2002) | |
| c.971-2A>C | - | splice_site_variant | Familial | Maternal | - | 33590427 | Ohashi K et al. (2021) | |
| c.966G>A | p.Trp322Ter | stop_gained | De novo | - | Multiplex | 28263302 | C Yuen RK et al. (2017) | |
| c.971-2A>C | - | splice_site_variant | Familial | Paternal | Simplex | 31674007 | Wu H , et al. (2019) | |
| c.236C>T | p.Thr79Met | missense_variant | De novo | - | Simplex | 29346770 | Takata A , et al. (2018) | |
| c.1130A>T | p.Asp377Val | missense_variant | Familial | Paternal | - | 33590427 | Ohashi K et al. (2021) |
Common Variants (21)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.-2480C>T;c.-2471C>T | - | 2KB_upstream_variant, 5_prime_UTR_variant | - | - | - | 21453499 | Tansey KE , et al. (2011) | |
| - | - | gene_variant | - | - | - | 26087016 | Pappa I , et al. (2015) | |
| - | G>A | intergenic_variant | - | - | - | 25707602 | Kantojrvi K , et al. (2015) | |
| - | - | microsatellite, 2KB_upstream_variant | - | - | - | 28808521 | Yang SY , et al. (2017) | |
| N/A | N/A | microsatellite, intron_variant | - | - | - | 16520824 | Yirmiya N , et al. (2006) | |
| - | - | microsatellite, 2KB_upstream_variant | - | - | - | 27920663 | Francis SM , et al. (2016) | |
| - | - | microsatellite, 5KB_upstream_variant | - | - | - | 27920663 | Francis SM , et al. (2016) | |
| N/A | N/A | microsatellite, 5KB_upstream_variant | - | - | - | 12082568 | Kim SJ , et al. (2002) | |
| c.-3476A>G;c.-3153A>G | - | 2KB_upstream_variant | - | - | - | 20546835 | Yang SY , et al. (2010) | |
| c.-3476A>G;c.-3153A>G | - | 2KB_upstream_variant | - | - | - | 28808521 | Yang SY , et al. (2017) | |
| - | - | microsatellite, 5KB_upstream_variant | - | - | - | 27874273 | Procyshyn TL , et al. (2016) | |
| N/A | N/A | microsatellite, 2KB_upstream_variant | - | - | - | 20452058 | Yang SY , et al. (2010) | |
| N/A | N/A | microsatellite, 5KB_upstream_variant | - | - | - | 20452058 | Yang SY , et al. (2010) | |
| c.408T>C;c.417T>C | p.(=) | synonymous_variant | - | - | - | 15098001 | Wassink TH , et al. (2004) | |
| c.-2623A>G;c.-2554-60A>G | - | 2KB_upstream_variant | - | - | - | 20546835 | Yang SY , et al. (2010) | |
| c.-2623A>G;c.-2554-60A>G | - | 2KB_upstream_variant | - | - | - | 28808521 | Yang SY , et al. (2017) | |
| N/A | N/A | microsatellite, 2KB_upstream_variant | - | - | - | 21453499 | Tansey KE , et al. (2011) | |
| N/A | N/A | microsatellite, 2KB_upstream_variant | - | - | - | 15098001 | Wassink TH , et al. (2004) | |
| N/A | N/A | microsatellite, 5KB_upstream_variant | - | - | - | 15098001 | Wassink TH , et al. (2004) | |
| N/A | N/A | microsatellite, 2KB_upstream_variant | - | - | - | 25707602 | Kantojrvi K , et al. (2015) | |
| N/A | N/A | microsatellite, 2KB_upstream_variant | - | - | - | 16205790 | Bachner-Melman R , et al. (2005) |
SFARI Gene score
Strong Candidate
Modest association of this gene with autism has been found in multiple studies (PMIDs 20452058, 20546835, 21453499; see PMID 16520824 with p ~ 7 x 10-5 for association between haplotype and ADOS). There has also been demonstration in the human brain of a functional relationship between associated genotype and amygdala response to faces (PMID 18490926). This score was obtained via category 4.3 with strong evidence for involvement in a related phenotype, namely social cognition.
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.
1/1/2021
Score remained at 2
Description
Modest association of this gene with autism has been found in multiple studies (PMIDs 20452058, 20546835, 21453499; see PMID 16520824 with p ~ 7 x 10-5 for association between haplotype and ADOS). There has also been demonstration in the human brain of a functional relationship between associated genotype and amygdala response to faces (PMID 18490926). This score was obtained via category 4.3 with strong evidence for involvement in a related phenotype, namely social cognition.
1/1/2020
Score remained at 2
Description
Modest association of this gene with autism has been found in multiple studies (PMIDs 20452058, 20546835, 21453499; see PMID 16520824 with p ~ 7 x 10-5 for association between haplotype and ADOS). There has also been demonstration in the human brain of a functional relationship between associated genotype and amygdala response to faces (PMID 18490926). This score was obtained via category 4.3 with strong evidence for involvement in a related phenotype, namely social cognition.
10/1/2019
Decreased from 3 to 2
New Scoring Scheme
Description
Modest association of this gene with autism has been found in multiple studies (PMIDs 20452058, 20546835, 21453499; see PMID 16520824 with p ~ 7 x 10-5 for association between haplotype and ADOS). There has also been demonstration in the human brain of a functional relationship between associated genotype and amygdala response to faces (PMID 18490926). This score was obtained via category 4.3 with strong evidence for involvement in a related phenotype, namely social cognition.
7/1/2017
Decreased from 3 to 3
Description
Modest association of this gene with autism has been found in multiple studies (PMIDs 20452058, 20546835, 21453499; see PMID 16520824 with p ~ 7 x 10-5 for association between haplotype and ADOS). There has also been demonstration in the human brain of a functional relationship between associated genotype and amygdala response to faces (PMID 18490926). This score was obtained via category 4.3 with strong evidence for involvement in a related phenotype, namely social cognition.
4/1/2017
Decreased from 3 to 3
Description
Modest association of this gene with autism has been found in multiple studies (PMIDs 20452058, 20546835, 21453499; see PMID 16520824 with p ~ 7 x 10-5 for association between haplotype and ADOS). There has also been demonstration in the human brain of a functional relationship between associated genotype and amygdala response to faces (PMID 18490926). This score was obtained via category 4.3 with strong evidence for involvement in a related phenotype, namely social cognition.
Reports Added
[Transmission disequilibrium testing of arginine vasopressin receptor 1A (AVPR1A) polymorphisms in autism.2002] [Examination of AVPR1a as an autism susceptibility gene.2004] [Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills.2006] [Family-based association study of microsatellites in the 5' flanking region of AVPR1A with autism spectrum disorder in the Korean population.2010] [Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders.2010] [Association and Promoter Analysis of AVPR1A in Finnish Autism Families.2015] [Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism.2011] [Increased affiliative response to vasopressin in mice expressing the V1a receptor from a monogamous vole.1999] [Microsatellite instability generates diversity in brain and sociobehavioral traits.2005] [AVPR1a and SLC6A4 gene polymorphisms are associated with creative dance performance.2005] [Orally active vasopressin V1a receptor antagonist, SRX251, selectively blocks aggressive behavior.2006] [AVPR1A sequence variation in monogamous owl monkeys (Aotus azarai) and its implications for the evolution of platyrrhine social behavior.2010] [AVPR1A variant associated with preschoolers' lower altruistic behavior.2011] [Human maternal behaviour is associated with arginine vasopressin receptor 1A gene.2012] [Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans.2008] [A genome-wide approach to children's aggressive behavior: The EAGLE consortium.2015] [Association testing of vasopressin receptor 1a microsatellite polymorphisms in non-clinical autism spectrum phenotypes.2016] [ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin-AVPR1A, AVPR1B, and OXTR.2016] [Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder2017]1/1/2017
Decreased from 3 to 3
Description
Modest association of this gene with autism has been found in multiple studies (PMIDs 20452058, 20546835, 21453499; see PMID 16520824 with p ~ 7 x 10-5 for association between haplotype and ADOS). There has also been demonstration in the human brain of a functional relationship between associated genotype and amygdala response to faces (PMID 18490926). This score was obtained via category 4.3 with strong evidence for involvement in a related phenotype, namely social cognition.
10/1/2016
Decreased from 3 to 3
Description
Modest association of this gene with autism has been found in multiple studies (PMIDs 20452058, 20546835, 21453499; see PMID 16520824 with p ~ 7 x 10-5 for association between haplotype and ADOS). There has also been demonstration in the human brain of a functional relationship between associated genotype and amygdala response to faces (PMID 18490926). This score was obtained via category 4.3 with strong evidence for involvement in a related phenotype, namely social cognition.
7/1/2015
Decreased from 3 to 3
Description
Modest association of this gene with autism has been found in multiple studies (PMIDs 20452058, 20546835, 21453499; see PMID 16520824 with p ~ 7 x 10-5 for association between haplotype and ADOS). There has also been demonstration in the human brain of a functional relationship between associated genotype and amygdala response to faces (PMID 18490926). This score was obtained via category 4.3 with strong evidence for involvement in a related phenotype, namely social cognition.
Reports Added
[Transmission disequilibrium testing of arginine vasopressin receptor 1A (AVPR1A) polymorphisms in autism.2002] [Examination of AVPR1a as an autism susceptibility gene.2004] [Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills.2006] [Family-based association study of microsatellites in the 5' flanking region of AVPR1A with autism spectrum disorder in the Korean population.2010] [Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders.2010] [Association and Promoter Analysis of AVPR1A in Finnish Autism Families.2015] [Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism.2011] [Increased affiliative response to vasopressin in mice expressing the V1a receptor from a monogamous vole.1999] [Microsatellite instability generates diversity in brain and sociobehavioral traits.2005] [AVPR1a and SLC6A4 gene polymorphisms are associated with creative dance performance.2005] [Orally active vasopressin V1a receptor antagonist, SRX251, selectively blocks aggressive behavior.2006] [AVPR1A sequence variation in monogamous owl monkeys (Aotus azarai) and its implications for the evolution of platyrrhine social behavior.2010] [AVPR1A variant associated with preschoolers' lower altruistic behavior.2011] [Human maternal behaviour is associated with arginine vasopressin receptor 1A gene.2012] [Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans.2008] [A genome-wide approach to children's aggressive behavior: The EAGLE consortium.2015]1/1/2015
Decreased from 3 to 3
Description
Modest association of this gene with autism has been found in multiple studies (PMIDs 20452058, 20546835, 21453499; see PMID 16520824 with p ~ 7 x 10-5 for association between haplotype and ADOS). There has also been demonstration in the human brain of a functional relationship between associated genotype and amygdala response to faces (PMID 18490926). This score was obtained via category 4.3 with strong evidence for involvement in a related phenotype, namely social cognition.
Reports Added
[Association and Promoter Analysis of AVPR1A in Finnish Autism Families.2015] [Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism.2011] [Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans.2008]7/1/2014
Increased from No data to 3
Description
Modest association of this gene with autism has been found in multiple studies (PMIDs 20452058, 20546835, 21453499; see PMID 16520824 with p ~ 7 x 10-5 for association between haplotype and ADOS). There has also been demonstration in the human brain of a functional relationship between associated genotype and amygdala response to faces (PMID 18490926). This score was obtained via category 4.3 with strong evidence for involvement in a related phenotype, namely social cognition.
4/1/2014
Increased from No data to 3
Description
Modest association of this gene with autism has been found in multiple studies (PMIDs 20452058, 20546835, 21453499; see PMID 16520824 with p ~ 7 x 10-5 for association between haplotype and ADOS). There has also been demonstration in the human brain of a functional relationship between associated genotype and amygdala response to faces (PMID 18490926). This score was obtained via category 4.3 with strong evidence for involvement in a related phenotype, namely social cognition.
Krishnan Probability Score
Score 0.49517394392758
Ranking 3141/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 1.2864609500685E-5
Ranking 14092/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.93561206428983
Ranking 12932/18665 scored genes
[Show Scoring Methodology]
Larsen Cumulative Evidence Score
Score 18
Ranking 110/461 scored genes
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Zhang D Score
Score -0.36142702914599
Ranking 17944/20870 scored genes
[Show Scoring Methodology]
External PIN Data
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
| Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
|---|---|---|---|---|---|
| AVP | arginine vasopressin | Human | Protein Binding | 551 | P01185 |
| GRK5 | G protein-coupled receptor kinase 5 | Human | Protein Binding | 2869 | P34947 |