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A genotype resource for postmortem brain samples from the Autism Tissue Program / Richard F. WINTLE in Autism Research, 4-2 (April 2011)
[article]
Titre : A genotype resource for postmortem brain samples from the Autism Tissue Program Type de document : Texte imprimé et/ou numérique Auteurs : Richard F. WINTLE, Auteur ; Anath C. LIONEL, Auteur ; Pingzhao HU, Auteur ; Stephen D. GINSBERG, Auteur ; Dalila PINTO, Auteur ; Bhooma THIRUVAHINDRAPDURAM, Auteur ; John WEI, Auteur ; Christian R. MARSHALL, Auteur ; Jane PICKETT, Auteur ; Edwin H. Jr COOK, Auteur ; Stephen SCHERER, Auteur Année de publication : 2011 Article en page(s) : p.89-97 Langues : Anglais (eng) Mots-clés : autism autism spectrum disorder brain brodmann area 19 copy number variation genome-wide microarray single nucleotide polymorphism Index. décimale : PER Périodiques Résumé : The Autism Tissue Program (ATP), a science program of Autism Speaks, provides researchers with access to well-characterized postmortem brain tissues. Researchers access these tissues through a peer-reviewed, project-based approval process, and obtain related clinical information from a secure, online informatics portal. However, few of these samples have DNA banked from other sources (such as a blood sample from the same individual), hindering genotype–phenotype correlation and interpretation of gene expression data derived from the banked brain tissue. Here, we describe an initiative to extract DNA from Brodmann Area 19, and genotype these samples using both the Affymetrix Genome-Wide Human SNP Array 6.0 and the Illumina Human1M-Duo DNA Analysis BeadChip genome-wide microarray technologies. We additionally verify reported gender, and infer ethnic background from the single nucleotide polymorphism data. We have also used a rigorous, multiple algorithm approach to identify genomic copy number variation (CNV) from these array data. Following an initial proof of principle study using two samples, 52 experimental samples, consisting of 27 subjects with confirmed or suspected autism and related disorders, 5 subjects with cytogenetically visible duplications of 15q, 2 with epilepsy and 18 age-matched normal controls were processed, yielding high-quality genotype data in all cases. The genotype and CNV data are provided via the ATP informatics portal as a resource for the autism research community. En ligne : http://dx.doi.org/10.1002/aur.173 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121
in Autism Research > 4-2 (April 2011) . - p.89-97[article] A genotype resource for postmortem brain samples from the Autism Tissue Program [Texte imprimé et/ou numérique] / Richard F. WINTLE, Auteur ; Anath C. LIONEL, Auteur ; Pingzhao HU, Auteur ; Stephen D. GINSBERG, Auteur ; Dalila PINTO, Auteur ; Bhooma THIRUVAHINDRAPDURAM, Auteur ; John WEI, Auteur ; Christian R. MARSHALL, Auteur ; Jane PICKETT, Auteur ; Edwin H. Jr COOK, Auteur ; Stephen SCHERER, Auteur . - 2011 . - p.89-97.
Langues : Anglais (eng)
in Autism Research > 4-2 (April 2011) . - p.89-97
Mots-clés : autism autism spectrum disorder brain brodmann area 19 copy number variation genome-wide microarray single nucleotide polymorphism Index. décimale : PER Périodiques Résumé : The Autism Tissue Program (ATP), a science program of Autism Speaks, provides researchers with access to well-characterized postmortem brain tissues. Researchers access these tissues through a peer-reviewed, project-based approval process, and obtain related clinical information from a secure, online informatics portal. However, few of these samples have DNA banked from other sources (such as a blood sample from the same individual), hindering genotype–phenotype correlation and interpretation of gene expression data derived from the banked brain tissue. Here, we describe an initiative to extract DNA from Brodmann Area 19, and genotype these samples using both the Affymetrix Genome-Wide Human SNP Array 6.0 and the Illumina Human1M-Duo DNA Analysis BeadChip genome-wide microarray technologies. We additionally verify reported gender, and infer ethnic background from the single nucleotide polymorphism data. We have also used a rigorous, multiple algorithm approach to identify genomic copy number variation (CNV) from these array data. Following an initial proof of principle study using two samples, 52 experimental samples, consisting of 27 subjects with confirmed or suspected autism and related disorders, 5 subjects with cytogenetically visible duplications of 15q, 2 with epilepsy and 18 age-matched normal controls were processed, yielding high-quality genotype data in all cases. The genotype and CNV data are provided via the ATP informatics portal as a resource for the autism research community. En ligne : http://dx.doi.org/10.1002/aur.173 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121 Analysis and functional characterization of sequence variations in ligand binding domain of thyroid hormone receptors in autism spectrum disorder (ASD) patients / Mahesh Kumar KALIKIRI in Autism Research, 10-12 (December 2017)
[article]
Titre : Analysis and functional characterization of sequence variations in ligand binding domain of thyroid hormone receptors in autism spectrum disorder (ASD) patients Type de document : Texte imprimé et/ou numérique Auteurs : Mahesh Kumar KALIKIRI, Auteur ; Madhu Poornima MAMIDALA, Auteur ; Ananth N. RAO, Auteur ; Vidya RAJESH, Auteur Article en page(s) : p.1919-1928 Langues : Anglais (eng) Mots-clés : autism spectral disorder (ASD) thyroid hormone receptors single nucleotide polymorphism trans-activation studies site directed mutagenesis Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a neuro developmental disorder, reported to be on a rise in the past two decades. Thyroid hormone-T3 plays an important role in early embryonic and central nervous system development. T3 mediates its function by binding to thyroid hormone receptors, TR? and TR?. Alterations in T3 levels and thyroid receptor mutations have been earlier implicated in neuropsychiatric disorders and have been linked to environmental toxins. Limited reports from earlier studies have shown the effectiveness of T3 treatment with promising results in children with ASD and that the thyroid hormone levels in these children was also normal. This necessitates the need to explore the genetic variations in the components of the thyroid hormone pathway in ASD children. To achieve this objective, we performed genetic analysis of ligand binding domain of THRA and THRB receptor genes in 30 ASD subjects and in age matched controls from India. Our study for the first time reports novel single nucleotide polymorphisms in the THRA and THRB receptor genes of ASD individuals. Autism Res 2017, 10: 1919–1928. ©2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Thyroid hormone (T3) and thyroid receptors (TR? and TR?) are the major components of the thyroid hormone pathway. The link between thyroid pathway and neuronal development is proven in clinical medicine. Since the thyroid hormone levels in Autistic children are normal, variations in their receptors needs to be explored. To achieve this objective, changes in THRA and THRB receptor genes was studied in 30 ASD and normal children from India. The impact of some of these mutations on receptor function was also studied. En ligne : http://dx.doi.org/10.1002/aur.1838 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=323
in Autism Research > 10-12 (December 2017) . - p.1919-1928[article] Analysis and functional characterization of sequence variations in ligand binding domain of thyroid hormone receptors in autism spectrum disorder (ASD) patients [Texte imprimé et/ou numérique] / Mahesh Kumar KALIKIRI, Auteur ; Madhu Poornima MAMIDALA, Auteur ; Ananth N. RAO, Auteur ; Vidya RAJESH, Auteur . - p.1919-1928.
Langues : Anglais (eng)
in Autism Research > 10-12 (December 2017) . - p.1919-1928
Mots-clés : autism spectral disorder (ASD) thyroid hormone receptors single nucleotide polymorphism trans-activation studies site directed mutagenesis Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a neuro developmental disorder, reported to be on a rise in the past two decades. Thyroid hormone-T3 plays an important role in early embryonic and central nervous system development. T3 mediates its function by binding to thyroid hormone receptors, TR? and TR?. Alterations in T3 levels and thyroid receptor mutations have been earlier implicated in neuropsychiatric disorders and have been linked to environmental toxins. Limited reports from earlier studies have shown the effectiveness of T3 treatment with promising results in children with ASD and that the thyroid hormone levels in these children was also normal. This necessitates the need to explore the genetic variations in the components of the thyroid hormone pathway in ASD children. To achieve this objective, we performed genetic analysis of ligand binding domain of THRA and THRB receptor genes in 30 ASD subjects and in age matched controls from India. Our study for the first time reports novel single nucleotide polymorphisms in the THRA and THRB receptor genes of ASD individuals. Autism Res 2017, 10: 1919–1928. ©2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Thyroid hormone (T3) and thyroid receptors (TR? and TR?) are the major components of the thyroid hormone pathway. The link between thyroid pathway and neuronal development is proven in clinical medicine. Since the thyroid hormone levels in Autistic children are normal, variations in their receptors needs to be explored. To achieve this objective, changes in THRA and THRB receptor genes was studied in 30 ASD and normal children from India. The impact of some of these mutations on receptor function was also studied. En ligne : http://dx.doi.org/10.1002/aur.1838 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=323 Association with Autism of Two Polymorphisms in Gene Encoding Oxytocin Receptors in Slovakia / Silvia LAKATOSOVA in Autism - Open Access, 3-3 (December 2013)
[article]
Titre : Association with Autism of Two Polymorphisms in Gene Encoding Oxytocin Receptors in Slovakia Type de document : Texte imprimé et/ou numérique Auteurs : Silvia LAKATOSOVA, Auteur ; Lenka DUDOVA, Auteur ; Anna PIVOVARCIOVA, Auteur ; Veronika HUSAROVA, Auteur ; Katarina BABINSKA, Auteur ; Aneta KUBRANSKA, Auteur ; Daniela OSTATNIKOVA, Auteur Année de publication : 2013 Article en page(s) : 5 p. Langues : Anglais (eng) Mots-clés : Autism Oxytocin receptor Single nucleotide polymorphism Index. décimale : PER Périodiques Résumé : Study background: Autism is a complex neurodevelopmental disorder involving genetic components in its etiology. Oxytocin is a neuropeptide affecting social behavior acting in the CNS via binding its only type of receptor (OXTR). A number of studies have shown an association of polymorphisms in the OXTR gene and the diagnosis of autism in different ethnic populations. The aim of this study is to find an association of polymorphisms in the OXTR gene and the diagnosis of autism in Slovakia. Methods: After acquiring informed consent, 108 autism patients were recruited into the study (83 males, 25 females), in addition to 131 healthy children as a control group (106 males, 25 females). DNA was extracted from whole blood and four single nucleotide polymorphisms (rs223785, rs2270465, rs2268498, rs53576) were assessed using the PCR-RFLP method. Results: We found two positive associations of polymorphisms in OXTR with autism in boys, namely markers rs2270465 and rs237851 (p<0.0001 and p=0.0016). Both markers survived multiple comparison testing (p<0.0005, p<0.001, respectively). There were no significant differences in the genotype and allelic distribution among groups in girls. Conclusion: Polymorphisms in oxytocin receptor are associated with autism. The addition of psychological profiling may reveal possible correlations of gentoypes/alleles within OXTR with symptom severities. En ligne : http://dx.doi.org/10.4172/2165-7890.1000121 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=228
in Autism - Open Access > 3-3 (December 2013) . - 5 p.[article] Association with Autism of Two Polymorphisms in Gene Encoding Oxytocin Receptors in Slovakia [Texte imprimé et/ou numérique] / Silvia LAKATOSOVA, Auteur ; Lenka DUDOVA, Auteur ; Anna PIVOVARCIOVA, Auteur ; Veronika HUSAROVA, Auteur ; Katarina BABINSKA, Auteur ; Aneta KUBRANSKA, Auteur ; Daniela OSTATNIKOVA, Auteur . - 2013 . - 5 p.
Langues : Anglais (eng)
in Autism - Open Access > 3-3 (December 2013) . - 5 p.
Mots-clés : Autism Oxytocin receptor Single nucleotide polymorphism Index. décimale : PER Périodiques Résumé : Study background: Autism is a complex neurodevelopmental disorder involving genetic components in its etiology. Oxytocin is a neuropeptide affecting social behavior acting in the CNS via binding its only type of receptor (OXTR). A number of studies have shown an association of polymorphisms in the OXTR gene and the diagnosis of autism in different ethnic populations. The aim of this study is to find an association of polymorphisms in the OXTR gene and the diagnosis of autism in Slovakia. Methods: After acquiring informed consent, 108 autism patients were recruited into the study (83 males, 25 females), in addition to 131 healthy children as a control group (106 males, 25 females). DNA was extracted from whole blood and four single nucleotide polymorphisms (rs223785, rs2270465, rs2268498, rs53576) were assessed using the PCR-RFLP method. Results: We found two positive associations of polymorphisms in OXTR with autism in boys, namely markers rs2270465 and rs237851 (p<0.0001 and p=0.0016). Both markers survived multiple comparison testing (p<0.0005, p<0.001, respectively). There were no significant differences in the genotype and allelic distribution among groups in girls. Conclusion: Polymorphisms in oxytocin receptor are associated with autism. The addition of psychological profiling may reveal possible correlations of gentoypes/alleles within OXTR with symptom severities. En ligne : http://dx.doi.org/10.4172/2165-7890.1000121 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=228 Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD) / Katri KANTOJARVI in Autism Research, 4-3 (June 2011)
[article]
Titre : Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD) Type de document : Texte imprimé et/ou numérique Auteurs : Katri KANTOJARVI, Auteur ; Ilona KOTALA, Auteur ; Karola REHNSTROM, Auteur ; Tero YLISAUKKO-OJA, Auteur ; Raija VANHALA, Auteur ; Taina NIEMINEN-VON WENDT, Auteur ; Lennart VON WENDT, Auteur ; Irma JARVELA, Auteur Année de publication : 2011 Article en page(s) : p.228-233 Langues : Anglais (eng) Mots-clés : ACSL4 autism spectrum disorders DLG3 gene IL1RAPL2 linkage RPS6KA6 single nucleotide polymorphism ZNF711 XLMR Index. décimale : PER Périodiques Résumé : About 80% of cases with autism express intellectual disability. Both in autism and in mental retardation without autism the majority of the cases are males, suggesting a X-chromosomal effect. In fact, some molecular evidence has been obtained for a common genetic background for autism spectrum disorders (ASD) and X-linked mental retardation (XLMR). In several genome-wide scans (GWS), evidence for linkage at X-chromosome has been reported including the GWS of Finnish ASD families with the highest multipoint lod score (MLS) of 2.75 obtained close to DXS7132 at Xq11.1. To further dissect the relationship between autism and genes implicated in XLMR, we have fine-mapped Xq11.1-q21.33 and analyzed five candidate genes in the region. We refined the region using 26 microsatellite markers and linkage analysis in 99 Finnish families with ASD. The most significant evidence for linkage was observed at DXS1225 on Xq21.1 with a nonparametric multipoint NPLall value of 3.43 (P = 0.0004). We sequenced the coding regions and splice sites of RPS6KA6 and ZNF711 residing at the peak region in 42 male patients from families contributing to the linkage. We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR. A total of six novel and 11 known single nucleotide polymorphisms were identified. Further studies are warranted to analyze the candidate genes at Xq11.1-q21.33. En ligne : http://dx.doi.org/10.1002/aur.187 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=127
in Autism Research > 4-3 (June 2011) . - p.228-233[article] Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD) [Texte imprimé et/ou numérique] / Katri KANTOJARVI, Auteur ; Ilona KOTALA, Auteur ; Karola REHNSTROM, Auteur ; Tero YLISAUKKO-OJA, Auteur ; Raija VANHALA, Auteur ; Taina NIEMINEN-VON WENDT, Auteur ; Lennart VON WENDT, Auteur ; Irma JARVELA, Auteur . - 2011 . - p.228-233.
Langues : Anglais (eng)
in Autism Research > 4-3 (June 2011) . - p.228-233
Mots-clés : ACSL4 autism spectrum disorders DLG3 gene IL1RAPL2 linkage RPS6KA6 single nucleotide polymorphism ZNF711 XLMR Index. décimale : PER Périodiques Résumé : About 80% of cases with autism express intellectual disability. Both in autism and in mental retardation without autism the majority of the cases are males, suggesting a X-chromosomal effect. In fact, some molecular evidence has been obtained for a common genetic background for autism spectrum disorders (ASD) and X-linked mental retardation (XLMR). In several genome-wide scans (GWS), evidence for linkage at X-chromosome has been reported including the GWS of Finnish ASD families with the highest multipoint lod score (MLS) of 2.75 obtained close to DXS7132 at Xq11.1. To further dissect the relationship between autism and genes implicated in XLMR, we have fine-mapped Xq11.1-q21.33 and analyzed five candidate genes in the region. We refined the region using 26 microsatellite markers and linkage analysis in 99 Finnish families with ASD. The most significant evidence for linkage was observed at DXS1225 on Xq21.1 with a nonparametric multipoint NPLall value of 3.43 (P = 0.0004). We sequenced the coding regions and splice sites of RPS6KA6 and ZNF711 residing at the peak region in 42 male patients from families contributing to the linkage. We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR. A total of six novel and 11 known single nucleotide polymorphisms were identified. Further studies are warranted to analyze the candidate genes at Xq11.1-q21.33. En ligne : http://dx.doi.org/10.1002/aur.187 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=127 Towards Identifying Genetic Biomarkers for Gastrointestinal Dysfunction in Autism / A. E. SHINDLER in Journal of Autism and Developmental Disorders, 50-1 (January 2020)
[article]
Titre : Towards Identifying Genetic Biomarkers for Gastrointestinal Dysfunction in Autism Type de document : Texte imprimé et/ou numérique Auteurs : A. E. SHINDLER, Auteur ; E. L. HILL-YARDIN, Auteur ; S. PETROVSKI, Auteur ; N. BISHOP, Auteur ; A. E. FRANKS, Auteur Article en page(s) : p.76-86 Langues : Anglais (eng) Mots-clés : Autism Constipation Diarrhea Gastrointestinal dysfunction Nausea Single nucleotide polymorphism Index. décimale : PER Périodiques Résumé : This study investigated genetic biomarkers for gastrointestinal dysfunction symptoms in order to provide further information on the genetic risk for GI dysfunction associated with autism. The single nucleotide polymorphisms of sixty participants with autism and/or gastrointestinal dysfunction were analyzed. The autism group had a moderate statistical significance for the Prolactin (PRL) (OR 6.35, p value 0.069) and Interleukin 10 (IL-10) (OR 0.25, p value 0.087) SNPs. The GI dysfunction group had a strong statistical significance for the Cluster of Differentiation 38 (CD38) (OR 6.88, p value 0.005) and oxytocin receptor (OXTR) (OR 0.27, p value 0.036) SNPs. The potential use of PRL, IL-10, CD38, and OXTR SNP expression as biomarkers for GI dysfunction in autism warrants further research. En ligne : http://dx.doi.org/10.1007/s10803-019-04231-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414
in Journal of Autism and Developmental Disorders > 50-1 (January 2020) . - p.76-86[article] Towards Identifying Genetic Biomarkers for Gastrointestinal Dysfunction in Autism [Texte imprimé et/ou numérique] / A. E. SHINDLER, Auteur ; E. L. HILL-YARDIN, Auteur ; S. PETROVSKI, Auteur ; N. BISHOP, Auteur ; A. E. FRANKS, Auteur . - p.76-86.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 50-1 (January 2020) . - p.76-86
Mots-clés : Autism Constipation Diarrhea Gastrointestinal dysfunction Nausea Single nucleotide polymorphism Index. décimale : PER Périodiques Résumé : This study investigated genetic biomarkers for gastrointestinal dysfunction symptoms in order to provide further information on the genetic risk for GI dysfunction associated with autism. The single nucleotide polymorphisms of sixty participants with autism and/or gastrointestinal dysfunction were analyzed. The autism group had a moderate statistical significance for the Prolactin (PRL) (OR 6.35, p value 0.069) and Interleukin 10 (IL-10) (OR 0.25, p value 0.087) SNPs. The GI dysfunction group had a strong statistical significance for the Cluster of Differentiation 38 (CD38) (OR 6.88, p value 0.005) and oxytocin receptor (OXTR) (OR 0.27, p value 0.036) SNPs. The potential use of PRL, IL-10, CD38, and OXTR SNP expression as biomarkers for GI dysfunction in autism warrants further research. En ligne : http://dx.doi.org/10.1007/s10803-019-04231-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population / Tomasz IWANICKI in Journal of Autism and Developmental Disorders, 52-10 (October 2022)
PermalinkReplicative genetic association study between functional polymorphisms in AVPR1A and social behavior scales of autism spectrum disorder in the Korean population / S. Y. YANG in Molecular Autism, 8 (2017)
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