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 Links	Entrez ID:627; OMIM: 113505; Uniprot ID:BDNF_HUMAN; ENSEMBL ID: ENSG00000176697

Sequences Top

nucleotide Sequence
Protein Sequence

>BDNF|627|nucleotide
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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

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Population	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Philippe, 2002_1	PARIS	1 (detail)	39	78 (24.36%)			AD	16.5 (5-46)	- -
Nishimura, 2007_1	AGRE	25 (detail)	-	- (-)			AD	- -	- -

Case Control Based Association Studies: 2

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
Toma, 2012_1	Spanish	1 (detail)	326 (16.87%)			ASD	17 -	-	350 (16.86%)	- -
ASIAN
Cheng, 2009_1	China	4 (detail)	124 (13.71%)			AD	5.36(male), 4.57(female) -	-	120 (-)	- -

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Stage	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level
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	blood			ASD	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	brain			autism	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	blood			ASD	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

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

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
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
AutCNV0000707	11	11p14.2-13	loss	1	-	CNVs Only Present In Patients;	Shinawi, 2011

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

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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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