rs34379767
This is a regulatory region variant variant in the BDNF gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (1)
▶Significant association of BDNF haplotypes in European‐American male smokers but not in European‐American female or African‐American smokersFunctionalN=300Joke Beuten et al.(2005)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This study analyzed genotype-expression interactions for BDNF across five human brain regions using GTEx data from 300 subjects (985 tissue samples). At FDR < 0.1, 61 SNPs in cerebellum, 55 in cortex, 48 in nucleus accumbens, 47 in caudate, and 58 in cerebellar hemisphere were associated with BDNF expression. Thirty SNPs in two haplotype blocks were shared across all five regions, including rs6265 (Val66Met), rs16917204, rs11030104, and rs6484320, which have been previously associated with psychiatric disorders including depression, bipolar disorder, schizophrenia, OCD, epilepsy, and addiction.
About BDNF
This gene encodes a member of the nerve growth factor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. Binding of this protein to its cognate receptor promotes neuronal survival in the adult brain. Expression of this gene is reduced in Alzheimer's, Parkinson's, and Huntington's disease patients. This gene may play a role in the regulation of the stress response and in the biology of mood disorders. [provided by RefSeq, Nov 2015]
View all BDNF variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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