AutismKB


Deprecated: mysql_connect(): The mysql extension is deprecated and will be removed in the future: use mysqli or PDO instead in /rd1/www/autismkb_www/mysql_connect.php on line 14

Evidence Detail for OXTR


View Evidences View Annotations
Basic Information Top
Gene Symbol:OXTR ( OT-R )
Gene Full Name: oxytocin receptor
Band: 3p25
Quick LinksEntrez ID:5021; OMIM: 167055; Uniprot ID:OXYR_HUMAN; ENSEMBL ID: ENSG00000180914
Sequences Top
>OXTR|5021|nucleotide
Show »

>OXTR|5021|protein
Show »

Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 1 (2) 1 (1) 1 (2) 1 (3) 3 (9) 3 (4) 40 (21)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 7
Case Control Based Association Studies: 2
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Kelemenova, 2010_1 Slovakia 1 (detail) 90
(0.00%)
ASD -
-
- 85
(-)
-
-
ASIAN
Liu, 2010_1 Japan 11 (detail) 288
(14.58%)
ASD 18.35±9.5 (223), 25.20±4.8 (65)
-
- 440
(38.18%)
40.9±9.7
-
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
No Evidence.
Case Control Based Association Studies: 2
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
de Krom, 2008_2 Replication 2 (detail) 128
(14.06%)
ASD -
(4-18)
- 273
(-)
-
-
de Krom, 2008_1 Discovery 2 (detail) 144
(17.36%)
ASD -
(4-18)
- 404
(-)
-
-
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Gregory, 2009_1 human peripheral blood mononuclear cellsautism RNA regulation: methylation
  • Subjects: 20 (10 female, 10 male)
  • Normal Controls: 20 (10 female, 10 male)
  • Methods: Methylation analysis (bisulfite sequencing (BSS) analysis)
  • Evidence Details: BSS data showed significantly increased methylation in the PBMCs of CpG -860 (P=0.0009), -934 (P=0.0081) and -959 (P=0.0026) in individuals with autism compared to controls
Gregory, 2009_2 human brain temporal cortex autism RNA regulation: methylation
  • Subjects: 8 (6 male and 2 female)
  • Normal Controls: 8 (6 male and 2 female)
  • Methods: Methylation analysis (bisulfite sequencing (BSS) analysis)
  • Evidence Details: The BSS results in the cortex again showed statistically significant hypermethylation in the autism cases versus normal controls. There was significant increased methylation at CpG -860 (P = 0.0251), CpG -901 (P = 0.0149), CpG -924 (P = 0.0448) and CpG -934 (P = 0.0233) between autism cortex tissue compared to the normal cortex controls.
Gregory, 2009_3 human brain temporal cortex autism RNA expression
  • Subjects: 4 (3 male and 1 female)
  • Normal Controls: 4 (3 male and 1 female)
  • Methods: quantitative PCR (qPCR)
  • Evidence Details: We detected a sex-specific decrease in expression of OXTR for each of the autistic male control pairs tested, and in two of the three male cases expression levels correlated with an increase in methylation at site -934. As a group, autistic males showed a 20% decrease in expression compared to controls that was significant at P = 0.0389.
Campbell, 2011_1 human bloodASD genotype-phenotype interaction
  • Subjects: 1234 pedigrees including 2333 individuals with ASD
  • Normal Controls: -
  • Methods: Taqman SNP Genotyping Assays on an ABI PRISM 7900HT
  • Evidence Details: Association of three markers previously implicated in ASD susceptibility, rs2268493 (P=0.043), rs1042778 (P=0.037),and rs7632287 (P=0.016), was observed. But none of the significant associations would survive appropriate coorection for multiple comparisions. However, the current findings of association in a large independent cohort are consistent with previous results, and the biological plausibility of participation of the oxytocin signaling system in modulating social disruptions characteristic of ASD, suggest that functional polymorphisms of OXTR may contribute to ASD risk in a subset of families.
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
1.36 Up 0.0652
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1804929
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000411 3 3p25.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000729 3 3p25.3-pter gain 1 - CNVs Only Present In Patients; Bremer, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000001 3p25.3 3 D3S3691 1.76 - - McCauley, 2005
AutLD0000120 3p25.3 3 D3S3680 1.51 - - Shao, 2002
AutLD0000128 3p25.3 3 D3S3594 - - 0.00007 Lauritsen, 2006

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:


  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
  • Click to Download Data

Registered with NIF