Association between the SLC6A3 A1343G polymorphism and schizophrenia

Cordeiro, Quirino; Siqueira-Roberto, Jacqueline; Vallada, Homero

doi:10.1590/s0004-282x2010000500008

Cited by 17 publications

(12 citation statements)

References 19 publications

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“…The 3’ untranslated region of SLC6A3 contains a common VNTR (frequency of 0.70) and has been associated with substance dependence, paranoia in cocaine addicts, response to amphetamines, ADHD, PD and bipolar disorder, schizophrenia (Cordeiro et al, 2010) and major depression (Pattarachotanant et al, 2010). Coding variants in DAT include V55A, R237Q, L368Q, V382A, A559V, P395L and E602G.…”

Section: Therapeutic Developmentmentioning

confidence: 99%

“… * - disease, ** - disorder NA – Not Applicable, ND – No Association Determined References for Biomarkers, Epigenetics and SNPs link to Disease: 1 – Haenisch et al, 2008, 2- Hahn and Blakely, 2007, 3 – Hahn et al, 2009, 4 - Song et al, 2011, 5 – Dlugos et al, 2007, 6 – Ham et al, 2005, 7 – Buttenschon et al, 2011, 8 – Kohli et al, 2011, 9 – Mick et al, 2008, 10 – Silva et al, 2009, 11 – Cordeiro et al, 2010, 12 – Pattarachotanant et al, 2010, 13 – Todt et al, 2009, 14 – Miguita et al, 2007, 15 - Sander et al, 2000, 16 – Tarnok et al, 2007, 17 - Prasad et al, 2009, 18 – Delorome et al, 2005, 19 - Wang et al, 2011, 20- Gerra et al, 2010, 21- Bloch et al, 2010, 22- Lima et al, 2011, 23 – Daray et al, 2010, 24 - Bosia et al, 2010, 25 – Retz et al, 2008, 26 – Schurks et al, 2010, 27 - Deng et al, 2008, 28 – Broer and Palacin, 2011, 29 – Kim et al, 2010, 30 - Ueno et al, 2009, 31 - Pasaje et al, 2010, 32 - Park et al, 2011, 33 - Kohli et al, 2011, 34 – Matsumoto et al, 2001, 35 – Gulyas et al, 2010, 36 - Remy et al, 2005, 37- McKeith et al, 2007, 38- Volkow et al, 2009, 39 – Mane et al, 2011, 40 - Iranzo et al, 2011, 41- Anand et al, 2011, 42- Nakamura et al, 2010, 43- Takano et al, 2007, 44 - Ichimiya et al, 2002, 45 - Cannon et al, 2006, 46 - Frankle et al, 2005, 47 - Oquendo et al, 2007, 48 – Guttman et al, 2007, 49 – Parsey et al, 2006, 50 - Esler et al, 2010, 51 – Hillemacher et al, 2009, 52 - Frieling et al, 2010, 53 – Haeffel et al, 2008, 54 - Becker et al, 2008, 55 – Lesch 2011, 56 – Chotai et al, 2003, 57 - Beach et al, 2009, 58 - vanIJzendoorn et al, 2010, 59 - Kinnally et al, 2010, 60 - Miller et al, 2009, 61 - Vasiliou et al, 2011, 62 - Jacob et al, 2010, 63 - Xie et al, 2009, 64 - Covault et al, 2007, 65 - Brody et al, 2009, 66 - Brummett et al, 2007, 67 - Safarinejad 2009, 68 - Maeney 2010 …”

Section: Figmentioning

confidence: 99%

See 1 more Smart Citation

SLC6 transporters: Structure, function, regulation, disease association and therapeutics

Pramod

Foster

Carvelli

et al. 2013

Molecular Aspects of Medicine

244

225

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The SLC6 family of secondary active transporters are integral membrane solute carrier proteins characterized by the Na+-dependent translocation of small amino acid or amino acid-like substrates. SLC6 transporters, which include the serotonin, dopamine, norepinephrine, GABA, taurine, creatine, as well as amino acid transporters, are associated with a number of human diseases and disorders making this family a critical target for therapeutic development. In addition, several members of this family are directly involved in the action of drugs of abuse such as cocaine, amphetamines, and ecstasy. Recent advances providing structural insight into this family have vastly accelerated our ability to study these proteins and their involvement in complex biological processes.

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Section: Therapeutic Developmentmentioning

confidence: 99%

Section: Figmentioning

confidence: 99%

SLC6 transporters: Structure, function, regulation, disease association and therapeutics

Pramod

Foster

Carvelli

et al. 2013

Molecular Aspects of Medicine

244

225

View full text Add to dashboard Cite

show abstract

“…Therefore, the genes involved in the dopaminergic system are potential targets for genetic association investigations in schizophrenia. Polymorphisms in dopamine transporter and receptors genes have been widely investigated as risk factors for schizophrenia development, but the results have been inconclusive [2][3][4][5] . Thus, other possible candidates for such investigations are the enzymes that metabolize dopamine, such as catechol-O-methyltransferase (COMT).…”

mentioning

confidence: 99%

Association study between the rs165599 catechol-O-methyltransferase genetic polymorphism and schizophrenia in a Brazilian sample

Cordeiro

Silva

Vallada

2012

Arq. Neuro-Psiquiatr.

Self Cite

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Schizophrenia is a severe psychiatric disorder characterized by psychotic symptoms and functional impairment, with recurrent relapses and continuing disability. The risk factors for schizophrenia are indicators currently perceived as epiphenomena of pathophysiological processes resulting from geneenvironment interactions that remain poorly understood 1 . Widespread impairments in brain function and structure have been shown in schizophrenia cases. It is also clear that, to a lesser degree, unaffected family members share many of the neurobiological abnormalities found in affected individuals, which suggests that the alleles that underlie the genetic risk of schizophrenia may primarily exert their effects on intermediate traits such as cerebral structure or function ABSTRACTSchizophrenia is a severe psychiatric disorder with frequent recurrent psychotic relapses and progressive functional impairment. It results from a poorly understood gene-environment interaction. The gene encoding catechol-O-methyltransferase (COMT) is a likely candidate for schizophrenia. Its rs165599 (A/G) polymorphism has been shown to be associated with alteration of COMT gene expression. Therefore, the present study aimed to investigate a possible association between schizophrenia and this polymorphism. The distribution of the alleles and genotypes of this polymorphism was investigated in a Brazilian sample of 245 patients and 834 controls. The genotypic frequencies were in Hardy-Weinberg equilibrium and no statistically significant differences were found between cases and controls when analyzed according to gender or schizophrenia subtypes. There was also no difference in homozygosis between cases and controls. Thus, in the sample studied, there was no evidence of any association between schizophrenia and rs165599 (A/G) polymorphism in the non-coding region 3' of the COMT gene.Key words: enzyme, genetics, psychosis, schizophrenia. RESUMOA esquizofrenia é um grave transtorno psiquiátrico que apresenta freqüentes recorrências psicóticas e incapacitação progressiva. Resulta de uma interação gene-ambiente ainda pouco compreendida. O gene da catecol-O-metiltransferase (COMT) é considerado um possível candidato para esquizofrenia. O polimorfismo genético rs165599 (A/G) da COMT foi associado com alteração da expressão do seu gene. Assim, o presente trabalho tem como objetivo investigar a possível associação de tal polimorfismo com esquizofrenia. A distribuição de seus alelos e genótipos foi investigada em uma amostra brasileira composta de 245 pacientes e 834 controles. As frequências genotípicas estavam em equilíbrio de Hardy-Weinberg e não se encontrou diferença estatisticamente significante entre casos e controles, quando analisados por gênero e subtipos da esquizofrenia. Não houve também diferença de homozigosidade entre casos e controles. Desse modo, na amostra estudada, não houve evidência de associação entre esquizofrenia e o polimorfismo rs165599 (A/G) localizado na região 3' não codificadora do gene da COMT.Palavras-Chave: enzima, gené...

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“…SLC6A3 (Solute carrier family 6 (neurotransmitter transporter, Dopamine), member 3; Dopamine transporter; DAT). Cordeiro et al [254] reported an association between a novel SNP (rs6347) located in exon 9 of the dopamine transporter (SLC6A3) and SCZ.…”

Section: Palb2 (Partner and Localizer Of Brca2)mentioning

confidence: 99%

Genomics of schizophrenia and pharmacogenomics of antipsychotic drugs

Cacabelos¹,

Cacabelos²,

Aliev³

2013

OJPsych

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Antipsychotic drugs are the neuroleptics currently used in the treatment of schizophrenia (SCZ) and psychotic disorders. SCZ has a heritability estimated at 70% - 90%; and pharmacogenomics accounts for 60% - 90% variability in the pharmacokinetics and pharmacodynamics of psychotropic drugs. Personalized therapeutics based on individual genomic profiles in SCZ entails the characterization of 5 types of gene clusters and their related metabolomic profiles: 1) genes associated with disease pathogenesis; 2) genes associated with the mechanism of action of drugs; 3) genes associated with drug metabolism (phase I and II reactions); 4) genes associated with drug transporters; and 5) pleiotropic genes involved in multifaceted cascades and metabolic reactions. Genetic studies in SCZ have revealed the presence of chromosome anomalies, copy number variants, multiple single-nucleotide polymorphisms of susceptibility distributed across the human genome, aberrant single-nucleotide polymorphisms in microRNA genes, mitochondrial DNA mutations, and epigenetic phenomena. Pharmacogenetic studies of psychotropic drug response have focused on determining the relationship between variation in specific candidate genes and the positive and adverse effects of drug treatment. Approximately 18% of neuroleptics are major substrates of CYP1A2 enzymes, 40% of CYP2D6, and 23% of CYP3A4. About 10% - 20% of Western populations are defective in genes of the CYP superfamily. Only 26% of Southern Europeans are pure extensive metabolizers for the trigenic cluster integrated by the CYP2D6 + CYP2C19 + CYP2C9 genes. Efficacy and safety issues in the pharmacological treatment of SCZ are directly linked to genetic clusters involved in the pharmacogenomics of antipsychotic drugs and also to environmental factors. Consequently, the incorporation of pharmacogenomic procedures both to drugs under development and drugs on the market would help to optimize therapeutics in SCZ and other central nervous system disorders.

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Association between the SLC6A3 A1343G polymorphism and schizophrenia

Cited by 17 publications

References 19 publications

SLC6 transporters: Structure, function, regulation, disease association and therapeutics

SLC6 transporters: Structure, function, regulation, disease association and therapeutics

Association study between the rs165599 catechol-O-methyltransferase genetic polymorphism and schizophrenia in a Brazilian sample

Genomics of schizophrenia and pharmacogenomics of antipsychotic drugs

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