rs12273539
This is a intron variant variant in the BDNF gene.
▶Research that mentions this SNP (1)
▶Association of BDNF gene polymorphisms with schizophrenia and clinical symptoms in a Chinese populationAssociationN=709Wenjun Li et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Case-control study in 709 Han Chinese individuals (375 schizophrenia patients, 334 controls) examining BDNF gene polymorphisms. While no significant differences were found for single-locus analysis of rs6265 (Val66Met), rs12273539, and rs10835210, the haplotype ATC of rs6265-rs12273539-rs10835210 was significantly more frequent in patients than controls (P=0.027), and the ACA haplotype was significantly associated with negative symptom scores on the PANSS (χ²=5.789, P=0.016), suggesting BDNF gene variants may contribute to schizophrenia susceptibility and negative symptoms in Chinese populations.
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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