Polymorphism, Genetic

Publication Title: 
Human Brain Mapping

BACKGROUND: The serotonin transporter (5-HTT) and the 5-HTTLPR/rs25531 polymorphisms in its gene (SLC6A4) have been associated with depression, increased stress-response, and brain structural alterations such as reduced hippocampal volumes. Recently, epigenetic processes including SLC6A4 promoter methylation were shown to be affected by stress, trauma, or maltreatment and are regarded to be involved in the etiology of affective disorders.

Dannlowski, Udo
Kugel, Harald
Redlich, Ronny
Halik, Adriane
Schneider, Ilona
Opel, Nils
Grotegerd, Dominik
Schwarte, Kathrin
Schettler, Christiane
AmbrÈe, Oliver
Rust, Stephan
Domschke, Katharina
Arolt, Volker
Heindel, Walter
Baune, Bernhard T.
Suslow, Thomas
Zhang, Weiqi
Hohoff, Christa
Publication Title: 
Molecular Neurobiology

We have published extensively on the neurogenetics of brain reward systems with reference to the genes related to dopaminergic function in particular. In 1996, we coined "Reward Deficiency Syndrome" (RDS), to portray behaviors found to have gene-based association with hypodopaminergic function. RDS as a useful concept has been embraced in many subsequent studies, to increase our understanding of Substance Use Disorder (SUD), addictions, and other obsessive, compulsive, and impulsive behaviors.

Blum, Kenneth
Oscar-Berman, Marlene
Demetrovics, Zsolt
Barh, Debmalya
Gold, Mark S.
Publication Title: 
International Journal of Environmental Research and Public Health

Although there is some evidence supporting the existence of an association between prenatal maternal or postnatal child's urine phthalate metabolite concentrations and poor attentional performances, the interaction between urine phthalate metabolite levels and genetic variation for neuropsychological deficit of attention-deficit hyperactivity disorder (ADHD) has not been examined.

Park, Subin
Kim, Bung-Nyun
Cho, Soo-Churl
Kim, Yeni
Kim, Jae-Won
Lee, Ju-Young
Hong, Soon-Beom
Shin, Min-Sup
Yoo, Hee Jeong
Im, Hosub
Cheong, Jae Hoon
Han, Doug Hyun
Publication Title: 
PloS One

The PCLO rs2522833 candidate polymorphism for depression has been associated to monoaminergic neurotransmission. In healthy and currently depressed individuals, the polymorphism has been found to affect activation of brain areas during memory processing, but no direct association of PCLO with memory bias was found. We hypothesized that the absence of this association might have been obscured by current depressive symptoms or genetically driven individual differences in reactivity to stressful events.

Vrijsen, Janna N.
Speckens, Anne
Arias-V·squez, Alejandro
Franke, Barbara
Becker, Eni S.
van Oostrom, Iris
Publication Title: 
Neurobiology of Aging

Reduced brain-derived neurotrophic factor (BDNF) function has been suggested as a risk factor for late-life depression. BDNF secretion is influenced by epigenetic (DNA promoter methylation) and genetic (val66met polymorphism) profiles. We investigated the independent and interactive effects of BDNF methylation and val66met polymorphism on late-life depression. In total, 732 Korean community residents aged ? 65 years were evaluated, and 521 of them without depression at baseline were followed up 2 years later.

Kang, Hee-Ju
Kim, Jae-Min
Bae, Kyung-Yeol
Kim, Sung-Wan
Shin, Il-Seon
Kim, Hye-Ran
Shin, Myung-Geun
Yoon, Jin-Sang
Publication Title: 
PloS One

Serotonin plays an important role in the etiology of depression. Serotonin is also crucial for brain development. For instance, animal studies have demonstrated that early disruptions in the serotonin system affect brain development and emotion regulation in later life. A plausible explanation is that environmental stressors reprogram the serotonin system through epigenetic processes by altering serotonin system gene expression. This in turn may affect brain development, including the hippocampus, a region with dense serotonergic innervations and important in stress-regulation.

Booij, Linda
Szyf, Moshe
Carballedo, Angela
Frey, Eva-Maria
Morris, Derek
Dymov, Sergiy
Vaisheva, Farida
Ly, Victoria
Fahey, Ciara
Meaney, James
Gill, Michael
Frodl, Thomas
Publication Title: 
International Journal of Psychiatry in Medicine

OBJECTIVE: Brain-derived neurotrophic factor (BDNF) has been considered a risk factor for suicidality. BDNF secretion is influenced by epigenetic (DNA methylation) and genetic (val66met polymorphism) profiles. We aimed to investigate the independent effects of BDNF promoter methylation status on suicidal ideation as well as the effects of its interaction with the val66met polymorphism in patients with breast cancer. METHODS: A total of279 patients with breast cancer were evaluated 1 week after breast surgery, and 244 (87%) were followed up 1 year later.

Kim, Jae-Min
Kang, Hee-Ju
Kim, Seon-Young
Kim, Sung-Wan
Shin, Il-Seon
Kim, Hye-Ran
Park, Min-Ho
Shin, Myung-Geun
Yoon, Jung-Han
Yoon, Jin-Sang
Publication Title: 
Expert Opinion on Biological Therapy

INTRODUCTION: Addiction is a substantial health issue with limited treatment options approved by the FDA and as such currently available. The advent of neuroimaging techniques that link neurochemical and neurogenetic mechanisms to the reward circuitry brain function provides a framework for potential genomic-based therapies. AREAS COVERED: Through candidate and genome-wide association studies approaches, many gene polymorphisms and clusters have been implicated in drug, food and behavioral dependence linked by the common rubric reward deficiency syndrome (RDS).

Blum, Kenneth
Thanos, Peter K.
Badgaiyan, Rajendra D.
Febo, Marcelo
Oscar-Berman, Marlene
Fratantonio, James
Demotrovics, Zsolt
Gold, Mark S.
Publication Title: 
Human Molecular Genetics

Sprouty proteins are regulators of cell growth and branching morphogenesis. Unlike mouse Spry3, which is X-linked, human SPRY3 maps to the pseudoautosomal region 2; however, the human Y-linked allele is not expressed due to epigenetic silencing by an unknown mechanism. SPRY3 maps adjacent to X-linked Trimethyllysine hydroxylase epsilon (TMLHE), recently identified as an autism susceptibility gene. We report that Spry3 is highly expressed in central and peripheral nervous system ganglion cells in mouse and human, including cerebellar Purkinje cells and retinal ganglion cells.

Ning, Zhenfei
McLellan, Andrew S.
Ball, Melanie
Wynne, Freda
O'Neill, Cora
Mills, Walter
Quinn, John P.
Kleinjan, Dirk A.
Anney, Richard J.
Carmody, Ruaidhre J.
O'Keeffe, Gerard
Moore, Tom
Publication Title: 
The International Journal of Neuropsychopharmacology

BACKGROUND: The human Val66Met polymorphism in brain-derived neurotrophic factor (BDNF), a key factor in neuroplasticity, synaptic function, and cognition, has been implicated in the pathophysiology of neuropsychiatric and neurodegenerative disorders. BDNF is encoded by multiple transcripts with distinct regulation and localization, but the impact of the Val66Met polymorphism on BDNF regulation remains unclear.

Mallei, Alessandra
Baj, Gabriele
Ieraci, Alessandro
Corna, Stefano
Musazzi, Laura
Lee, Francis S.
Tongiorgi, Enrico
Popoli, Maurizio


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