Gene "OXTR"
Found 2 records
Gene information
Gene symbol:
OXTR
See related:
Ensembl: ENSG00000180914, Gene ID: 5021
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
1 
Vriant:
2 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Altered severity(2)  
Details：
  • Variant 1:
    OXTR:c.922+6724C>T
    Gene:
    OXTR
    Genomic location:
    chr3:8802228
    dbSNP ID:
    rs2254298
    Target disease:
    Neurodevelopmental Abnormality(HP:0012759)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.0005 
    Effect:
    OXTR SNPs in the general population (rs53576 and rs2254298) were associated with an increased severity of social deficits in ASD
    Reference:
    PMID28912494
    Title:
    Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders.
    Species studied:
    Human
    Abstract:
    Oxytocin is a pituitary neuropeptide that affects social behaviour. Single nucleotide polymorphisms (SNPs) in the oxytocin receptor gene (OXTR) have been shown to explain some variability in social abilities in control populations. Whether these variants similarly contribute to the severity of social deficits experienced by children with neurodevelopmental disorders is unclear. Social abilities were assessed in a group of children with autism spectrum disorder (ASD, n=341) or attention deficit hyperactivity disorder (ADHD, n=276) using two established social measures. Scores were compared by OXTR genotype (rs53576, rs237887, rs13316193, rs2254298). Unexpectedly, the two most frequently studied OXTR SNPs in the general population (rs53576 and rs2254298) were associated with an increased severity of social deficits in ASD (p<0.0001 and p=0.0005), yet fewer social deficits in ADHD (p=0.007 and p<0.0001). We conclude that these genetic modifier alleles are not inherently risk-conferring with respect to their impact on social abilities; molecular investigations are greatly needed.
  • Variant 2:
    OXTR:c.922+4581T>C
    Gene:
    OXTR
    Genomic location:
    chr3:8804371
    dbSNP ID:
    rs53576
    Target disease:
    Neurodevelopmental Abnormality(HP:0012759)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P<0.0001 
    Effect:
    OXTR SNPs in the general population (rs53576 and rs2254298) were associated with an increased severity of social deficits in ASD
    Reference:
    PMID28912494
    Title:
    Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders.
    Species studied:
    Human
    Abstract:
    Oxytocin is a pituitary neuropeptide that affects social behaviour. Single nucleotide polymorphisms (SNPs) in the oxytocin receptor gene (OXTR) have been shown to explain some variability in social abilities in control populations. Whether these variants similarly contribute to the severity of social deficits experienced by children with neurodevelopmental disorders is unclear. Social abilities were assessed in a group of children with autism spectrum disorder (ASD, n=341) or attention deficit hyperactivity disorder (ADHD, n=276) using two established social measures. Scores were compared by OXTR genotype (rs53576, rs237887, rs13316193, rs2254298). Unexpectedly, the two most frequently studied OXTR SNPs in the general population (rs53576 and rs2254298) were associated with an increased severity of social deficits in ASD (p<0.0001 and p=0.0005), yet fewer social deficits in ADHD (p=0.007 and p<0.0001). We conclude that these genetic modifier alleles are not inherently risk-conferring with respect to their impact on social abilities; molecular investigations are greatly needed.