rs16917204

This is a intron variant variant in the BDNF-AS gene.

▶

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

body mass index

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.04
p 2.0e-27
N 163,835
Large GWAS
East Asian
▶

Research that mentions this SNP (2)

▶
The relationship between polymorphisms of BDNFOS and BDNF genes and heroin addiction in the Han Chinese population
ReviewTianbo Jin et al.(2016)· The Journal of Gene Medicine

This review examines neurogenetic and neuropharmacological correlates of opioid use disorder (OUD) with emphasis on ancestry-specific genetic risk profiles. The paper identifies multiple genes involved in the reward pathway (DRD2, DRD3, DRD4, OPRM1, OPRK1, OPRD1, BDNF, NRXN3, COMT, SLC6A4, KCNC1, KCNG2) and their variants associated with OUD susceptibility and treatment response across different ethnic populations, highlighting critical research disparities where African Americans and Hispanics have been underrepresented in genetic association studies.

Traits studied:Alcohol DependenceCocaine AddictionHeroin AddictionHeroin DependenceMethamphetamine DependenceMitochondrial DysfunctionNeonatal Abstinence SyndromeOpioid AddictionOpioid DependenceOpioid Use DisorderOxidative StressPain SensitivitySubstance Use Disorder
PubMedDOIMetascience Observatory
▶
Significant association of BDNF haplotypes in European‐American male smokers but not in European‐American female or African‐American smokers
FunctionalN=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.

Traits studied:Alzheimer's diseaseBDNF expressionBipolar disorderDepressionEating disordersEpilepsyMethamphetamine abuseNicotine addictionObsessive-compulsive disorderPanic disorderPost-traumatic stress disorderSchizophreniaSubstance use disorders
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

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…