scholarly journals Single nucleotide polymorphism of BDNF Val66Met (rs6265) and its association to neuropsychiatric disorders

2020 ◽  
Vol 3 (3) ◽  
pp. 9-26
Author(s):  
Asraa Faris ◽  
Pike-See Cheah ◽  
King-Hwa Ling

Brain-derived neurotrophic factor (BDNF) is the most abundant neurotrophin in the central nervous system and was shown to be involved in neuronal growth, differentiation and synaptic plasticity. A single nucleotide polymorphism at the pro-region of the BDNF gene (rs6265) has been reported to alter the amino acid from valine to methionine at codon 66 and was associated with neuropsychiatric disorders in several studies. To date, the results on the association of BDNF rs6265 to the aetiology of the neuropsychiatric illnesses have been inconsistent with some studies reporting a positive association and others reporting no association. Concerning the past inconsistent reports, this mini-review aims at determining the association of BDNF rs6265 and neuropsychiatric disorders among the different studies. Firstly, we discuss the findings on studies reporting the association of BDNF rs6265 with depression whereby a positive association between the BDNF variant and depression was obtained in several studies on the Caucasian, German, Chinese, and Malaysian population but not in studies on the Korean and other populations. Likewise, some studies found the occurrence of the SNP to be associated with a reduction in the BDNF level in depressed cases, but others found no effect at all. We then reported findings on the association of BDNF rs6265 with anxiety disorder, post-traumatic stress disorder, obsessive-compulsive disorder, panic disorder, bipolar disorder, and schizophrenia. Val allele has been found associated with these disorders, whereas some studies reported the involvement of the Met allele, and some reported no association at all. Similarly, the association of the BDNF variant with the BDNF level remains controversial. It is, therefore, essential to conduct more studies with larger sample sizes and look at the haplotype level to determine the association.

2014 ◽  
Vol 29 (5) ◽  
pp. 301-303 ◽  
Author(s):  
S. Dallaspezia ◽  
M. Mazza ◽  
C. Lorenzi ◽  
F. Benedetti ◽  
E. Smeraldi

AbstractDifferent genetic polymorphisms in the SLC1A1 have been shown to be associated with obsessive-compulsive disorder. Rs301430 is a T/C functional polymorphism affecting the gene expression and extrasynaptic glutamate concentration.We observed that Rs301430 influence age at onset in obsessive-compulsive disorder.


2020 ◽  
Vol 11 ◽  
Author(s):  
Xiaoqian Fu ◽  
Jun Wang ◽  
Jianbin Du ◽  
Jing Sun ◽  
Ancha Baranova ◽  
...  

Background: Schizophrenia (SZ) is a severe chronic mental disorder with complex genetic mechanisms. Brain-derived neurotrophic factor (BDNF) is one of promising candidate genes for SZ, and rs6265 is a non-synonymous single nucleotide polymorphism (SNP) in BDNF.Methods: In this study, we performed a case-control association study of rs6265 in a cohort of Han Chinese population from eastern China, including 1,407 SZ patients and 1,136 healthy controls; and carried out a cis-mQTL (Methylation Quantitative Trait Loci) analysis for BDNF rs6265.Results: We found a positive association of rs6265 with SZ (P = 0.037), with the minor allele (A) of rs6265 conferring a protecting effect for SZ (OR = 0.89). Furthermore, cis-mQTL analysis indicates that rs6265 is associated with several methylation loci surrounding BDNF.Conclusions: Together, our findings provide further evidence to support the involvement of BDNF gene in the genesis of SZ.


Biomédica ◽  
2018 ◽  
Vol 38 (3) ◽  
pp. 320-328
Author(s):  
Sandra Marlen González-Peña ◽  
Eduardo Campos-Góngora ◽  
Hilda Guadalupe Ávila-Rodríguez ◽  
Erik Ramírez-López ◽  
Rafael Velázquez-Cruz ◽  
...  

Introducción. La osteoporosis se caracteriza por una baja densidad mineral ósea; la composición genética es uno de los factores que más influyen en ella, pero hay pocos estudios de genes asociados con esta condición en la población mexicana.Objetivo. Investigar la posible asociación de ocho polimorfismos de un solo nucleótido (Single Nucleotide Polymorphism, SNP) de los genes JAG1, MEF2C y BDNF con la densidad mineral ósea en mujeres del norte de México.Materiales y métodos. Participaron 124 mujeres de 40 a 80 años, sin parentesco entre ellas. Su densidad mineral ósea se determinó mediante absorciometría dual de rayos X y la genotipificación se hizo utilizando discriminación alélica mediante PCR en tiempo real; se estudiaron cuatro de los SNP del gen JAG1 (rs6514116, rs2273061, rs2235811 y rs6040061), tres del MEF2C (rs1366594, rs12521522 y rs11951031) y uno del BDNF (rs6265). El análisis estadístico de los datos obtenidos se hizo por regresión lineal.Resultados. El SNP rs2235811 presentó asociación significativa con la densidad mineral ósea de todo el cuerpo bajo el modelo de herencia dominante (p=0,024) y, aunque los otros SNP no tuvieron relación significativa con esta densidad, en ninguno de los modelos de herencia estudiados, se observó una tendencia hacia esta asociación.Conclusión. Los resultados sugieren que el SNP rs2235811 del gen JAG1 podría contribuir a la variación en la densidad mineral ósea de las mujeres del norte de México.


2021 ◽  
Vol 8 (10) ◽  
pp. 274-278
Author(s):  
Donatella Marazziti ◽  
Alessandra Della Vecchia

Oxytocin (OT) is a peptide hormone unique to mammals, typically involved in activities characteristic of this vertebrate class, such as labour and lactation. Evidence suggests a role of OT even in most complex activities, including child attachment, maternal care, couple bonding, emotional and social behaviors. Furthermore, it seems to contribute to the modulation of stress responses, learning, and memory processes, as well as to the connection of social signals with cognition, behaviors and reward. For this reason, for years there has been a debate on the possible contribution of the OT system in the pathophysiology of different neuropsychiatric disorders, including autism spectrum disorders, obsessive-compulsive disorder, depression, anxiety disorders, post-traumatic stress disorder, eating disorders, addiction, and schizophrenia. In this article, we describe the most relevant findings on OT system abnormalities in the aforementioned disorders, with a focus on possible therapeutic implications.


2015 ◽  
Vol 74 (2) ◽  
pp. 75-82 ◽  
Author(s):  
Monique C. Pfaltz ◽  
Beatrice Mörstedt ◽  
Andrea H. Meyer ◽  
Frank H. Wilhelm ◽  
Joe Kossowsky ◽  
...  

Obsessive-compulsive disorder (OCD) is a severe anxiety disorder characterized by frequent obsessive thoughts and repetitive behaviors. Neuroticism is a vulnerability factor for OCD, yet the mechanisms by which this general vulnerability factor affects the development of OCD-related symptoms are unknown. The present study assessed a hierarchical model of the development of obsessive thoughts that includes neuroticism as a general, higher-order factor, and specific, potentially maladaptive thought processes (thought suppression, worry, and brooding) as second-order factors manifesting in the tendency toward obsessing. A total of 238 participants completed questionnaires assessing the examined constructs. The results of mediator analyses demonstrated the hypothesized relationships: A positive association between neuroticism and obsessing was mediated by thought suppression, worry, and brooding. Independent of the participant’s sex, all three mediators contributed equally and substantially to the association between neuroticism and obsessing. These findings extend earlier research on hierarchical models of anxiety and provide a basis for further refinement of models of the development of obsessive thoughts.


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