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Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder / Jernej KOVAC in Autism Research, 7-1 (February 2014)
[article]
Titre : Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Jernej KOVAC, Auteur ; Marta MACEDONI LUKSIC, Auteur ; Katarina TREBUSAK PODKRAJŠEK, Auteur ; Gašper KLANCAR, Auteur ; Tadej BATTELINO, Auteur Article en page(s) : p.138-144 Langues : Anglais (eng) Mots-clés : autism spectrum disorder superoxide dismutase genetic variants oxidative stress ROS Index. décimale : PER Périodiques Résumé : Oxidative stress is suspected to be one of the several contributing factors in the etiology of autism spectrum disorder (ASD). We analyzed genes of the superoxide dismutase family (SOD1, SOD2, and SOD3) that are part of a major antioxidative stress system in human in order to detect the genetic variants contributing to the development of ASD. Using the optimized high-resolution melting (HRM) analysis, we identified two rare single nucleotide polymorphisms (SNPs) associated with the etiology of ASD. Both are located in the superoxide dismutase 1 (SOD1) gene and have a minor allele frequency in healthy population ?5%. The SNP c.239?+?34AC (rs2234694) and SNP g.3341CG (rs36233090) were detected with an odds ratio of 2.65 and P??0.01. Both are located in the noncoding potentially regulatory regions of the SOD1 gene. This adds to the importance of rare SNPs in the etiology of complex diseases as well as to the importance of noncoding genetic variants analysis with a potential influence on the regulation of gene expression. En ligne : http://dx.doi.org/10.1002/aur.1345 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227
in Autism Research > 7-1 (February 2014) . - p.138-144[article] Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Jernej KOVAC, Auteur ; Marta MACEDONI LUKSIC, Auteur ; Katarina TREBUSAK PODKRAJŠEK, Auteur ; Gašper KLANCAR, Auteur ; Tadej BATTELINO, Auteur . - p.138-144.
Langues : Anglais (eng)
in Autism Research > 7-1 (February 2014) . - p.138-144
Mots-clés : autism spectrum disorder superoxide dismutase genetic variants oxidative stress ROS Index. décimale : PER Périodiques Résumé : Oxidative stress is suspected to be one of the several contributing factors in the etiology of autism spectrum disorder (ASD). We analyzed genes of the superoxide dismutase family (SOD1, SOD2, and SOD3) that are part of a major antioxidative stress system in human in order to detect the genetic variants contributing to the development of ASD. Using the optimized high-resolution melting (HRM) analysis, we identified two rare single nucleotide polymorphisms (SNPs) associated with the etiology of ASD. Both are located in the superoxide dismutase 1 (SOD1) gene and have a minor allele frequency in healthy population ?5%. The SNP c.239?+?34AC (rs2234694) and SNP g.3341CG (rs36233090) were detected with an odds ratio of 2.65 and P??0.01. Both are located in the noncoding potentially regulatory regions of the SOD1 gene. This adds to the importance of rare SNPs in the etiology of complex diseases as well as to the importance of noncoding genetic variants analysis with a potential influence on the regulation of gene expression. En ligne : http://dx.doi.org/10.1002/aur.1345 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 Oxidative Stress in Adults with Autism Spectrum Disorder: A Case Control Study / M. THORSEN in Journal of Autism and Developmental Disorders, 52-1 (January 2022)
[article]
Titre : Oxidative Stress in Adults with Autism Spectrum Disorder: A Case Control Study Type de document : Texte imprimé et/ou numérique Auteurs : M. THORSEN, Auteur ; Niels BILENBERG, Auteur ; L. THORSEN, Auteur ; T. M. MICHEL, Auteur Article en page(s) : p.275-282 Langues : Anglais (eng) Mots-clés : Adult Antioxidants/metabolism Autism Spectrum Disorder Autistic Disorder Case-Control Studies Child Female Humans Male Oxidative Stress Sex Superoxide Dismutase Xanthine Oxidase Index. décimale : PER Périodiques Résumé : Oxidative stress has been proposed as being important in the pathophysiology of autism spectrum disorders (ASD), and heightened levels of oxidative stress has found in children with ASD. Our aim was to investigate, whether this change is temporary or persist into adulthood. We included 89 adult patients with ASD and sex and age matched controls. Plasma levels of antioxidants superoxide dismutase 1 (SOD1) and superoxide dismutase 2 (SOD2) and pro-oxidant xanthine oxidase (XO) were measured. Individuals with ASD had higher levels of SOD1, which furthermore correlated with autism severity as measured by autism quotient-score. We found no difference regarding SOD2 and XO between ASD group and controls. However, SOD1 and SOD2 were elevated in males compared to females. En ligne : http://dx.doi.org/10.1007/s10803-021-04897-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.275-282[article] Oxidative Stress in Adults with Autism Spectrum Disorder: A Case Control Study [Texte imprimé et/ou numérique] / M. THORSEN, Auteur ; Niels BILENBERG, Auteur ; L. THORSEN, Auteur ; T. M. MICHEL, Auteur . - p.275-282.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.275-282
Mots-clés : Adult Antioxidants/metabolism Autism Spectrum Disorder Autistic Disorder Case-Control Studies Child Female Humans Male Oxidative Stress Sex Superoxide Dismutase Xanthine Oxidase Index. décimale : PER Périodiques Résumé : Oxidative stress has been proposed as being important in the pathophysiology of autism spectrum disorders (ASD), and heightened levels of oxidative stress has found in children with ASD. Our aim was to investigate, whether this change is temporary or persist into adulthood. We included 89 adult patients with ASD and sex and age matched controls. Plasma levels of antioxidants superoxide dismutase 1 (SOD1) and superoxide dismutase 2 (SOD2) and pro-oxidant xanthine oxidase (XO) were measured. Individuals with ASD had higher levels of SOD1, which furthermore correlated with autism severity as measured by autism quotient-score. We found no difference regarding SOD2 and XO between ASD group and controls. However, SOD1 and SOD2 were elevated in males compared to females. En ligne : http://dx.doi.org/10.1007/s10803-021-04897-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454