Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome / Jaroslava DURDIAKOVA in Molecular Autism, (March 2014)  

Public ISBD [article]  inMolecular Autism > (March 2014) . - p.1-5 Titre : Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Jaroslava DURDIAKOVA, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur Article en page(s) : p.1-5 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism Spectrum Conditions (ASC) are a group of developmental conditions which affect communication, social interactions and behaviour. Mitochondrial oxidative dysfunction has been suggested as a mechanism of autism based on the results of multiple genetic association and expression studies. SLC25A12 is a gene encoding a calcium-binding carrier protein that localizes to the mitochondria and is involved in the exchange of aspartate for glutamate in the inner membrane of the mitochondria regulating the cytosolic redox state. rs2056202 SNP in this gene has previously been associated with ASC. SNPs rs6716901 and rs3765166 analysed in this study have not been previously explored in association with AS. En ligne : http://dx.doi.org/10.1186/2040-2392-5-25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome [Texte imprimé et/ou numérique] / Jaroslava DURDIAKOVA, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur . - p.1-5. Langues : Anglais (eng) in Molecular Autism > (March 2014) . - p.1-5 Index. décimale : PER Périodiques Résumé : Autism Spectrum Conditions (ASC) are a group of developmental conditions which affect communication, social interactions and behaviour. Mitochondrial oxidative dysfunction has been suggested as a mechanism of autism based on the results of multiple genetic association and expression studies. SLC25A12 is a gene encoding a calcium-binding carrier protein that localizes to the mitochondria and is involved in the exchange of aspartate for glutamate in the inner membrane of the mitochondria regulating the cytosolic redox state. rs2056202 SNP in this gene has previously been associated with ASC. SNPs rs6716901 and rs3765166 analysed in this study have not been previously explored in association with AS. En ligne : http://dx.doi.org/10.1186/2040-2392-5-25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

STX1A and Asperger syndrome: a replication study / Jaroslava DURDIAKOVA in Molecular Autism, (February 2014)  

Public ISBD [article]  inMolecular Autism > (February 2014) Titre : STX1A and Asperger syndrome: a replication study Type de document : Texte imprimé et/ou numérique Auteurs : Jaroslava DURDIAKOVA, Auteur ; Varun WARRIER, Auteur ; Sharmila BANERJEE-BASU, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum conditions (ASC) are a group of conditions characterized by difficulties in communication and social interaction, alongside unusually narrow interests and repetitive, stereotyped behaviour. Genetic association and expression studies have suggested an important role for the GABAergic circuits in ASC. Syntaxin 1A (STX1A) encodes a protein involved in regulation of serotonergic and GABAergic systems and its expression is altered in autism. In this study, the association between three single nucleotide polymorphisms (SNPs) (rs4717806, rs941298 and rs6951030) in STX1A gene and Asperger syndrome (AS) were tested in 650 controls and 479 individuals with AS, all of Caucasian ancestry. rs4717806 (P=0.00334) and rs941298 (P=0.01741) showed a significant association with AS, replicating previous results. Both SNPs putatively alter transcription factor binding sites both directly and through other variants in high linkage disequilibrium. The current study confirms the role of STX1A as an important candidate gene in ASC. The exact molecular mechanisms through which STX1A contributes to the etiology remain to be elucidated. En ligne : http://dx.doi.org/10.1186/2040-2392-5-14 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 [article] STX1A and Asperger syndrome: a replication study [Texte imprimé et/ou numérique] / Jaroslava DURDIAKOVA, Auteur ; Varun WARRIER, Auteur ; Sharmila BANERJEE-BASU, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur. Langues : Anglais (eng) in Molecular Autism > (February 2014) Index. décimale : PER Périodiques Résumé : Autism spectrum conditions (ASC) are a group of conditions characterized by difficulties in communication and social interaction, alongside unusually narrow interests and repetitive, stereotyped behaviour. Genetic association and expression studies have suggested an important role for the GABAergic circuits in ASC. Syntaxin 1A (STX1A) encodes a protein involved in regulation of serotonergic and GABAergic systems and its expression is altered in autism. In this study, the association between three single nucleotide polymorphisms (SNPs) (rs4717806, rs941298 and rs6951030) in STX1A gene and Asperger syndrome (AS) were tested in 650 controls and 479 individuals with AS, all of Caucasian ancestry. rs4717806 (P=0.00334) and rs941298 (P=0.01741) showed a significant association with AS, replicating previous results. Both SNPs putatively alter transcription factor binding sites both directly and through other variants in high linkage disequilibrium. The current study confirms the role of STX1A as an important candidate gene in ASC. The exact molecular mechanisms through which STX1A contributes to the etiology remain to be elucidated. En ligne : http://dx.doi.org/10.1186/2040-2392-5-14 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227

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