Tourette syndrome and dopaminergic genes: a family-based association study in the French Canadian founder population

Díaz-Anzaldúa, Adriana; Joober, Ridha; Rivière, J-B; Dion, Yves; Lespérance, Paul; Richer, François; Chouinard, Sylvain; Rouleau, Guy A.

doi:10.1038/sj.mp.4001411

Cited by 83 publications

(47 citation statements)

References 30 publications

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“…Díaz-Anzaldúa et al 99 used the TDT approach, which has proven to be a robust family-based association analysis to investigate the implication of dopamine-related candidate genes (DRD2, DRD3, dopamine receptor type 4 gene -DRD4 -, dopamine transporter gene -SLC6A3 and MAOA) in 110 TS patients and their parents from French Canadian origin. The study reported that from the total MAOA-mVNTR "high-activity" alleles found in heterozygous parents, 68% were transmitted to the TS patient.…”

Section: Suicidal Behaviormentioning

confidence: 99%

O papel do polimorfismo funcional VNTR da região promotora do gene MAOA nos transtornos psiquiátricos

Nishioka¹,

Perin²,

Sampaio³

et al. 2011

Rev. psiquiatr. clín.

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Introduction: A functional variable number of tandem repeats (VNTR) polymorphism of the promoter region of the monoamine oxidase A (MAOA) gene has been described and many studies have investigated the association of this polymorphism with human behaviors, as well as with several psychiatric disorders. Objective: This study aimed to review the literature on the role of the VNTR functional polymorphism of the promoter region of the MAOA gene on the modulation of human behavior for the development of psychiatric disorders. Method: Searches on the Medline, Embase, Web of Science and PsycInfo databases were performed including works from January 1998 to June 2009. The words used were: "MAOA and human behavior" and "MAOA and psychiatry". Results: Several studies were found (N = 3,873). After the selection process, 109 papers were included in the review. There was found an association of MAOA low activity alleles with antisocial personality disorder, conduct disorder, ADHD, pathological gambling, and substance abuse. High activity alleles were associated with neuroticism, anorexia nervosa and depression and anxiety disorders. There was no association between the MAOA polymorphisms and bipolar disorder and schizophrenia. Discussion: The main findings, summarized in this paper, support a role of MAOA VNTR polymorphism in some psychiatric disorders although some divergences were found due to methodological difficulties in genetic studies. In general, the studies associated the low activity alleles with impulsivity and aggressive behavior ("hyperactive behaviors"), and the high activity alleles of the gene with "hypoactive behaviors", such as depression and anxiety, which demonstrates a modulation of the MAOA enzyme in "hyperactive" and "hypoactive" disorders.

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Section: Suicidal Behaviormentioning

confidence: 99%

O papel do polimorfismo funcional VNTR da região promotora do gene MAOA nos transtornos psiquiátricos

Nishioka¹,

Perin²,

Sampaio³

et al. 2011

Rev. psiquiatr. clín.

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“…phisms with variable tandem repeats have been implicated in the prevalence of several mental disorders, including attention deficit-hyperactivity disorder (ADHD) (10,11), Tourette syndrome (12), and substance abuse (13,14). Moreover, human studies suggest that the gene polymorphisms correlate with the PFC gray matter volume (15) and responsiveness to medication in ADHD patients (16).…”

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confidence: 99%

Cellular Mechanisms for Dopamine D4 Receptor-induced Homeostatic Regulation of α-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid (AMPA) Receptors

Yuen

Yan

2011

Journal of Biological Chemistry

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The mesocortical dopamine inputs from ventral tegmental area to prefrontal cortex (PFC) 2 is involved in many cognitive functions, such as motivation (1) D 4 receptor is of particular interest because of its potent affinity to atypical antipsychotics, such as clozapine, which has fewer extrapyramidal side effects compared with typical antipsychotics with D 2 antagonism (8, 9). The D 4 R gene polymorphisms with variable tandem repeats have been implicated in the prevalence of several mental disorders, including attention deficit-hyperactivity disorder (ADHD) (10, 11), Tourette syndrome (12), and substance abuse (13,14). Moreover, human studies suggest that the gene polymorphisms correlate with the PFC gray matter volume (15) and responsiveness to medication in ADHD patients (16). In animal studies, mice lacking D 4 R show cortical hyperexcitability (17), decreased novelty exploration (18), and increased locomotor sensitivity to psychostimulants (19). These findings support the essential role of D 4 R in normal PFC functioning as well as in many neuropsychiatric disorders.Growing evidence suggests a homeostatic function of D 4 receptors in PFC. Behavioral studies show that a D 4 antagonist may enhance or suppress working memory depending on the base-line performance (20). Our previous studies have identified two homeostatic targets of D 4 : CaMKII and AMPAR (21,22). At high neuronal activity, D 4 suppresses AMPAR-mediated synaptic transmission by decreasing CaMKII activity. Conversely, at low neuronal activity, D 4 potentiates AMPAR trafficking and function by increasing CaMKII enzymatic activity and synaptic redistribution (22,23). Such a D 4 -mediated, state-dependent homeostatic mechanism could be highly relevant to the pathophysiology of ADHD and schizophrenia, in which weakened D 4 function and dysregulation of glutamatergic transmission have been implicated. In this study, we have dissected out the mechanisms downstream of CaMKII that are responsible for the activity-dependent bi-directional regulation of AMPARs by D 4 in PFC pyramidal neurons. MATERIALS AND METHODSSynaptic Current Recording in PFC Cultures-All experiments were carried out with the approval of the State University of New York at Buffalo Animal Care Committee. PFC cultures were prepared from 18-day rat embryos and maintained for 3-4 weeks in vitro. In some experiments, cultures were pretreated with the GABA A R antagonist bicuculline (10 M, 2 h) or TTX (0.5 M, 2 h) to elevate or dampen basal neuronal activity, respectively. AMPAR-mediated mEPSC was recorded as described previously (24). The internal solution contained 130 mM cesium methanesulfonate, 10 mM CsCl, 4 mM NaCl, 1 mM MgCl 2 , 10 mM HEPES, 5 mM EGTA, 2.2 mM lidocaine, 12 mM phosphocreatine, 5 mM MgATP, 0.5 mM Na 2 GTP, 0.1 mM leupeptin, pH 7.2-7.3, 265-270 mOsm. The external solution contained 127 mM NaCl, 5 mM KCl, 2 mM MgCl 2 , 2 mM CaCl 2 , 12 * This work was supported, in whole or in part, by National Institutes of Health Grant MH84233 (to Z. Y.

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“…Although a significant association between the X-linked MAOA gene and TS phenotype has been identified by Gade et al (Sabol et al, 1998) in 1998 and MAOA-VNTR association with susceptibility to TS in French Canadian population by family-based study by Díaz-Anzaldúa et al (2004), large genetic association and linkage studies to date have failed to implicate MAOA gene as the cause of TS. Moreover, genetic variants with minor effects in association studies between complex inheritance disorders (including ADHD, TS, and OCD) and dopamine candidate genes often lead to contradictory results among different methods, populations and experimental designs (Zsofia, Anna, & Maria, 2011).…”

Section: Discussionmentioning

confidence: 91%

Family-based association study between monoamine oxidase A (MAOA) gene promoter VNTR polymorphism and Tourette’s syndrome in Chinese Han population

Liu

Wang

et al. 2014

Neurocase

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To clarify the association of monoamine oxidase A- variable number of tandem repeat (MAOA-pVNTR) with susceptibility to Tourette's syndrome (TS) in Chinese Han population we discuss the genetic contribution of MAOA-VNTR in 141 TS patients including all their parents in Chinese Han population using transmission disequilibrium test (TDT) design. Our results revealed that no significant association was found in the MAOA gene promoter VNTR polymorphism and TS in Chinese Han population (TDT = 1.515, df = 1, p > 0.05). The negative result may be mainly due to the small sample size, but we don't deny the role of gene coding serotonergic or monoaminergic structures in the etiology of TS.

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Tourette syndrome and dopaminergic genes: a family-based association study in the French Canadian founder population

Cited by 83 publications

References 30 publications

O papel do polimorfismo funcional VNTR da região promotora do gene MAOA nos transtornos psiquiátricos

O papel do polimorfismo funcional VNTR da região promotora do gene MAOA nos transtornos psiquiátricos

Cellular Mechanisms for Dopamine D4 Receptor-induced Homeostatic Regulation of α-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid (AMPA) Receptors

Family-based association study between monoamine oxidase A (MAOA) gene promoter VNTR polymorphism and Tourette’s syndrome in Chinese Han population

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