Evidence Detail for BDNF

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Basic Information Top
Gene Symbol:BDNF ( MGC34632 )
Gene Full Name: brain-derived neurotrophic factor
Band: 11p13
Quick LinksEntrez ID:627; OMIM: 113505; Uniprot ID:BDNF_HUMAN; ENSEMBL ID: ENSG00000176697
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (1) 0 (0) 2 (4) 3 (4) 29 (10)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 2
Case Control Based Association Studies: 2
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
Toma, 2012_1 Spanish 1 (detail) 326
ASD 17
- 350
Cheng, 2009_1 China 4 (detail) 124
AD 5.36(male), 4.57(female)
- 120
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Nelson, 2001_1 human neonatal blood--ASD protein expression
  • Subjects: 69
  • Normal Controls: 54
  • Methods: recycling immunoaffinity chromatography
  • Evidence Details: We used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). Neonatal concentrations of VIP, CGRP, BDNF, and NT4/5 were higher (ANOVA, all p values < 0.0001 by Scheffe test for pairwise differences) in children in the autistic spectrum and in those with mental retardation without autism than in control children.
Gadow, 2009_1 human bloodASD genetics
  • Subjects: 67
  • Normal Controls: -
  • Methods: PCR, sequencing
  • Evidence Details: BDNF rs6265 (p = 0.07) were marginally significant for teacher ratings of social phobia (etap (2) = 0.06). Analyses also indicated associations of BDNF genotype with parent-rated ADHD (p = 0.01, etap (2) = 0.10) and teacher-rated tics (p = 0.04; etap (2) = 0.07). There was also evidence of a possible interaction (p = 0.02, etap (2) = 0.09) of BDNF genotype with DAT1 3' VNTR with tic severity.
Sheikh, 2010_1 human brainautism protein expression
  • Subjects: 9
  • Normal Controls: 9
  • Methods: western blot, ELISA
  • Evidence Details: Our studies show that Bcl2 is significantly decreased, whereas the expression of p53 is increased, in the brain of autistic subjects in comparison with age-matched controls. We also found that the expression and phosphorylation/activation of Akt kinase that regulates Bcl2 are significantly decreased in the autistic brain. The down-regulation of Akt may result from a decreased concentration of brain-derived neurotrophic factor (BDNF), the growth factor that modulates Akt activities.
Cheng, 2010_1 human ---autism genetics: association study
  • Subjects: -
  • Normal Controls: -
  • Methods: polyacrylamide gel-based microarray
  • Evidence Details: TDT analyses suggest a potential association between BDNF and autism in the Chinese population.
Jiao, 2011_1 human bloodASD SNP-based diagnose model
  • Subjects: 180
  • Normal Controls: -
  • Methods: PCR
  • Evidence Details: We found no significant differences in genotypes and allele distributions with respect to this SNP between our ASD subjects and normal Asian populations in the HapMap
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000707 11 11p14.2-13 loss 1 - CNVs Only Present In Patients; Shinawi, 2011
Linkage Studies Top

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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
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