rs8192466
This is a variant in the BDNF gene that changes a threonine to an isoleucine.
▶ClinVar annotation
BDNF-related disorder; Congenital central hypoventilation; Obesity; not specified
View on ClinVar →▶Research that mentions this SNP (2)
▶No association of brain‐derived neurotrophic factor Val66Met polymorphism with anorexia nervosa in JapaneseReviewTetsuya Ando et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This literature review examines the BDNF Val66Met polymorphism (rs6265) and its association with body weight fluctuations in psychiatric patients. The authors review evidence linking the Val66Met variant to weight changes across multiple psychiatric conditions including schizophrenia, eating disorders, bipolar disorder, major depressive disorder, OCD, and PTSD. The paper proposes the BDNF Val66Met polymorphism as a potential biomarker for monitoring body weight changes in psychiatric patients, noting that Met/Met genotype carriers show greater BMI increases particularly in schizophrenia and bipolar disorder.
▶BDNF Val66Met variant and age of onset in schizophreniaAssociationN=42Helen M. Chao et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This case-control study of 42 African-American subjects with DSM-III-R schizophrenia examines the BDNF Val66Met variant (rs6265) and its association with age of onset. The study found a significant relationship between BDNF Val66Met genotype and both age of first psychiatric hospitalization (P=0.023) and first schizophrenia symptoms (P=0.006), with Val/Val homozygotes showing later onset than Val/Met heterozygotes.
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…