rs11030104
This is a intron variant variant in the BDNF gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (7)
▶Neuroplasticity and second messenger pathways in antidepressant efficacy: pharmacogenetic results from a prospective trial investigating treatment resistanceAssociationN=2,066Chiara Fabbri et al.(2017)· European Archives of Psychiatry and Clinical Neuroscience
A prospective pharmacogenetic study of 220 treatment-resistant depression (TRD) patients examined 50 tag SNPs in 14 neuroplasticity and second messenger pathway genes for association with antidepressant response. Key findings included replication of ZNF804A rs7603001 with venlafaxine response (OR=2.51), CREB1 rs2254137 with remission, CHL1 rs2133402 with lower TRD risk, and MAPK1 rs6928 with all phenotypes (p=0.0006 after Bonferroni). Pathway analysis in STAR*D (n=1846) identified protein processing in the endoplasmic reticulum pathway as a potential mechanism of MAPK1 involvement.
▶Influence of genetic variants associated with body mass index on eating behavior in childhoodAssociationN=3,179Claire Monnereau et al.(2017)· Obesity
In a population-based cohort of 3,179 children, the study tested two weighted genetic risk scores based on 15 childhood and 97 adult BMI-associated SNPs, plus ten individual appetite/satiety SNPs, for association with eating behavior measures. The 97 SNP adult BMI risk score was nominally associated with lower satiety responsiveness (β: -0.007 SD, 95% CI -0.013, 0.000), while individual SNPs rs11030104 (BDNF) and rs10733682 (LMX1B) showed nominal associations with reduced satiety responsiveness (β: -0.057 to -0.087 SD). Overall, findings do not strongly support that BMI-associated SNPs influence eating behavior at this young age.
▶The relationship between polymorphisms of BDNFOS and BDNF genes and heroin addiction in the Han Chinese populationReviewTianbo 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.
▶Converging Evidence for the Association of Functional Genetic Variation in the Serotonin Receptor 2a Gene With Prefrontal Function and Olanzapine TreatmentAssociationN=887Giuseppe Blasi et al.(2013)· JAMA Psychiatry
Association study of 55 SNPs in 887 Hungarian adults examining genetic predisposition to aggression measured by the Buss-Perry Aggression Questionnaire. The HTR2A rs7322347 intronic variant showed significant association with aggression after Bonferroni correction (p = 0.0007), with carriers of the minor A allele showing lower aggression levels. The DRD4 rs916455 variant also showed nominal significance (p = 0.0275) but did not survive multiple testing correction.
▶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.
▶Association study of brain‐derived neurotrophic factor (BDNF) and LIN‐7 homolog (LIN‐7) genes with adult attention‐deficit/hyperactivity disorderAssociationN=201Matthew Lanktree et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Association study of BDNF and LIN-7 genes with adult ADHD using 80 family trios and 121 case-control pairs (201 total probands). Five BDNF SNPs and two LIN-7 SNPs were tested; the functional Val66Met polymorphism (rs6265) and BDNF_2 (rs11030104) showed significant associations after multiple testing correction with odds ratios of 1.65 (p=0.0096) and 1.66 (p=0.0085) respectively. LIN-7_1 (rs10835188) was also significantly associated with adult ADHD.
▶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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