ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	BDNF
Approved Name	brain-derived neurotrophic factor
Name Alias	neurotrophin
Location	11p14.1
Position	chr11:27676440-27743605, -
External Links	HGNC: 1033 Entrez Gene: 627 Ensembl: ENSG00000176697 UCSC: uc001mrm.2
No. of Studies	14 (significant: 8; non-significant: 6; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 14)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Aureli A, 2010	two investigated BDNF SNPs were siginificantly associated with ADHD	Significant
Cho SC, 2010(a)	The T-G-G haplotype was significantly less frequent and A-G-G was more frequent in girls with ADHD than in control girls, haplotype specific T-G-G P-value=0.005, haplotype specific A-G-G P-value=0.048, haplotype global P-value=0.027; AA genotype of rs 11030101 was significantly associated with ADHD only in girls, P-value=0.024, OR=3.00	Significant
Thakur G. A., 2012	SNP rs6265 mapped to this gene showed no significant association with ADHD in this study.	Non-significant
Lanktree M, 2008	haplotype A-G-A-G-T P-value=0.0086, X² =6.90 in the family-based sample, P-value=0.025, X² =5.04, OR=1.47 in the combined samples; haplotype G-A-G-C-C P-value=0.0054, X² =7.75, OR=0.46 in the case-control sample, P-value=0.0013, X² =10.37, OR=0.50 in the combined samples; allelic and haplotype association was found	Significant
Oades RD, 2008	3 SNPs showed significant association	Significant
Gizer IR, 2009	The present study does not support a relation between ADHD and this gene.	Non-significant
Sanchez-Mora C, 2010	no association between the p.Val66Met polymorphism and ADHD	Non-significant
Brookes K, 2006	UNPHASED TDT P-value=0.165, global P-value=0.888, WHAP TDT P_sum P-value=0.534, no SNP with nominal P-value<0.05 located in this gene	Non-significant
Kent L, 2005	evidence for preferential transmission of the valine (G) allele with a strong paternal effect supported the association between BDNF and ADHD	Significant
Friedel S, 2005	revealed no significant differences in genotype or allele distributions	Non-significant
Ribases M, 2008	1 SNP showed significant association with both adulthood and childhood ADHD; 1 SNP showed significant association with childhood ADHD	Significant
Lee J, 2007	Haplotype TRANSMIT Analysis: Global P-value=0.096 on 3 df for haplotypes with frequencies>10%; P-value=0.021 for haplotype AGG (frequency 2.2%) \| quantitative analyses of haplotype: smallest P-value=0.008 for AGG in Parent rated hyperactivity/impulsivity. Uncommon haplotype, A-G-G (frequency 2.2%), demonstrated a significant association with ADHD in categorical and quantitative analyses. However, the number of transmission for this haplotype was considered too low to provide a definitive result.	Significant
Schimmelmann BG, 2007	the result did not support for an involvement of the Val66 allele of the Val66Met polymorphism of BDNF in the pathogenesis of ADHD in this sample	Non-significant
Xu X, 2007(b)	Haplotype test for Val66/270T: TDT P-value=0.032, HHRR P-value=0.012, TRANSMIT P-value=0.014 for Taiwanese samples; TDT P-value=0.016, HHRR P-value=0.013, TRANSMIT P-value=0.07 for pooled samples. Haplotype analyses found evidence for decreased transmission of the Val66/270T haplotype in the Taiwanese sample and the pooled Taiwan/UK sample.	Significant

Gene related SNPs (count: 30)

Literature-origin SNPs (count: 13)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs16917204	Chr11:27668355(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs10767664	Chr11:27725986(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)
rs6265	Chr11:27679916(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant	12(3/9/0)
rs4923463	Chr11:27672500(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant	1(1/0/0)
rs2049046	Chr11:27723775(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2049045	Chr11:27694241(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant	1(1/0/0)
rs1491850	Chr11:27749725(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs11030104	Chr11:27684517(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	2(1/1/0)
rs11030096	Chr11:27665543(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs11030101	Chr11:27680744(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	1(1/0/0)
rs56164415	Chr11:27721735(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)
rs13306221	Chr11:27722689(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)
rs7103411	Chr11:27700125(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	2(2/0/0)

LD-proxies (count: 17)

rs_ID	Location	Functional Annotation
rs6484320	Chr11:27703188(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs16917237	Chr11:27702383(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs2030323	Chr11:27728539(Fwd)	intron_variant; nc_transcript_variant
rs988748	Chr11:27724745(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs1519480	Chr11:27675712(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs10835210	Chr11:27695910(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs7124442	Chr11:27677041(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs11030121	Chr11:27736207(Fwd)	intron_variant; nc_transcript_variant
rs7127507	Chr11:27714884(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs7934165	Chr11:27731983(Fwd)	intron_variant; nc_transcript_variant
rs10767665	Chr11:27733858(Fwd)	intron_variant; nc_transcript_variant
rs7103873	Chr11:27700317(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs2030324	Chr11:27726915(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs10767660	Chr11:27694962(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs10835214	Chr11:27707168(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs7931247	Chr11:27746991(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs2353512	Chr11:27679662(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (significant/non-significant/trend)
BDNF_C270T	point mutation	5' UTR	3 (2/1/0)

Gene related regions (count: 0)

Gene related GO terms (count: 37)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 37)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0072347	response to anesthetic	Biological Process		1
GO:0060079	regulation of excitatory postsynaptic membrane potential	Biological Process		9
GO:0055093	response to hyperoxia	Biological Process		4
GO:0051965	positive regulation of synapse assembly	Biological Process	IDA[19036963]	4
GO:0048839	inner ear development	Biological Process		5
GO:0048471	perinuclear region of cytoplasm	Cellular Component		87
GO:0048172	regulation of short-term neuronal synaptic plasticity	Biological Process		2
GO:0048170	positive regulation of long-term neuronal synaptic plasticity	Biological Process		2
GO:0001657	ureteric bud development	Biological Process		4
GO:0002544	chronic inflammatory response	Biological Process		2
GO:0001666	response to hypoxia	Biological Process		34
GO:0005576	extracellular region	Cellular Component		240
GO:0005169	neurotrophin TRKB receptor binding	Molecular Function		1
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	Biological Process		8
GO:0005737	cytoplasm	Cellular Component		690
GO:0007406	negative regulation of neuroblast proliferation	Biological Process		1
GO:0007399	nervous system development	Biological Process	TAS[2236018]	54
GO:0007412	axon target recognition	Biological Process		1
GO:0007411	axon guidance	Biological Process		65
GO:0007631	feeding behavior	Biological Process		9
GO:0007611	learning or memory	Biological Process		6
GO:0008021	synaptic vesicle	Cellular Component		13
GO:0008038	neuron recognition	Biological Process		4
GO:0008083	growth factor activity	Molecular Function		25
GO:0009725	response to hormone stimulus	Biological Process		11
GO:0014047	glutamate secretion	Biological Process		7
GO:0014076	response to fluoxetine	Biological Process		1
GO:0016358	dendrite development	Biological Process		9
GO:0019222	regulation of metabolic process	Biological Process		1
GO:0021675	nerve development	Biological Process		3
GO:0033189	response to vitamin A	Biological Process		3
GO:0042490	mechanoreceptor differentiation	Biological Process		3
GO:0042596	fear response	Biological Process		5
GO:0043524	negative regulation of neuron apoptotic process	Biological Process		19
GO:0045666	positive regulation of neuron differentiation	Biological Process		13
GO:0045843	negative regulation of striated muscle tissue development	Biological Process		1
GO:0046668	regulation of retinal cell programmed cell death	Biological Process		2

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05016	Huntington's disease	28	Huntington disease (HD) is an autosomal-dominant neurodegene...... Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. In the cytoplasm, full-length mHtt can interfere with BDNF vesicular transport on microtubules. This mutant protein also may lead to abnormal endocytosis and secretion in neurons, because normal Htt form a complex with the proteins Hip1, clathrin and AP2 that are involved in endocytosis. In addition, mHtt affects Ca2+ signaling by sensitizing InsP3R1 to activation by InsP3, stimulating NMDAR activity, and destabilizing mitochondrial Ca2+ handling. The mHtt translocates to the nucleus, where it forms intranuclear inclusions. Nuclear toxicity is believed to be caused by interference with gene transcription, leading to loss of transcription of neuroprotective molecules such as BDNF. While mHtt binds to p53 and upregulates levels of nuclear p53 as well as p53 transcriptional activity. Augmented p53 mediates mitochondrial dysfunction. More...
hsa04722	Neurotrophin signaling pathway	24	Neurotrophins are a family of trophic factors involved in di...... Neurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic factor (BDNF), neurotrophin 3 (NT-3), and neurotrophin 4 (NT-4). Neurotrophins exert their functions through engagement of Trk tyrosine kinase receptors or p75 neurotrophin receptor (p75NTR). Neurotrophin/Trk signaling is regulated by connecting a variety of intracellular signaling cascades, which include MAPK pathway, PI-3 kinase pathway, and PLC pathway, transmitting positive signals like enhanced survival and growth. On the other hand, p75NTR transmits both positive and nagative signals. These signals play an important role for neural development and additional higher-order activities such as learning and memory. More...
hsa04010	MAPK signaling pathway	69	The mitogen-activated protein kinase (MAPK) cascade is a hig...... The mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals express at least four distinctly regulated groups of MAPKs, extracellular signal-related kinases (ERK)-1/2, Jun amino-terminal kinases (JNK1/2/3), p38 proteins (p38alpha/beta/gamma/delta) and ERK5, that are activated by specific MAPKKs: MEK1/2 for ERK1/2, MKK3/6 for the p38, MKK4/7 (JNKK1/2) for the JNKs, and MEK5 for ERK5. Each MAPKK, however, can be activated by more than one MAPKKK, increasing the complexity and diversity of MAPK signalling. Presumably each MAPKKK confers responsiveness to distinct stimuli. For example, activation of ERK1/2 by growth factors depends on the MAPKKK c-Raf, but other MAPKKKs may activate ERK1/2 in response to pro-inflammatory stimuli. More...

Genes shared at least 5 GO terms with BDNF (count: 4)

Gene Symbol	Pathway Count	Pathway List
NTF3	7	extracellular region; nervous system development; axon guidance; growth factor activity; nerve development; mechanoreceptor differentiation; negative regulation of neuron apoptotic process;
SNCA	6	regulation of excitatory postsynaptic membrane potential; perinuclear region of cytoplasm; extracellular region; cytoplasm; synaptic vesicle; negative regulation of neuron apoptotic process;
VEGFA	5	response to hypoxia; extracellular region; cytoplasm; nervous system development; growth factor activity;
GDNF	5	extracellular region; nervous system development; axon guidance; growth factor activity; negative regulation of neuron apoptotic process;

Genes shared at least 2 KEGG pathways with BDNF (count: 11)

Gene Symbol	Pathway Count	Pathway List
CRKL	2	Neurotrophin signaling pathway; MAPK signaling pathway;
MAP3K5	2	Neurotrophin signaling pathway; MAPK signaling pathway;
MAPK1	2	Neurotrophin signaling pathway; MAPK signaling pathway;
MAPK3	2	Neurotrophin signaling pathway; MAPK signaling pathway;
MAPK7	2	Neurotrophin signaling pathway; MAPK signaling pathway;
MAPK9	2	Neurotrophin signaling pathway; MAPK signaling pathway;
NGF	2	Neurotrophin signaling pathway; MAPK signaling pathway;
NTF3	2	Neurotrophin signaling pathway; MAPK signaling pathway;
NTRK2	2	Neurotrophin signaling pathway; MAPK signaling pathway;
RELA	2	Neurotrophin signaling pathway; MAPK signaling pathway;
RPS6KA4	2	Neurotrophin signaling pathway; MAPK signaling pathway;

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Region: chr11:27676440..27743605 View in gBrowse