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)  

Public ISBD [article]  inAutism Research > 4-3 (June 2011) . - p.228-233 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 [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

Isolated Populations and Common Variants / Karola REHNSTROM

Public ISBD in Autism Spectrum Disorders / David G. AMARAL Titre : Isolated Populations and Common Variants Type de document : Texte imprimé et/ou numérique Auteurs : Karola REHNSTROM, Auteur ; Leena PELTONEN, Auteur Année de publication : 2011 Importance : p.756-765 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139 in Autism Spectrum Disorders / David G. AMARAL Isolated Populations and Common Variants [Texte imprimé et/ou numérique] / Karola REHNSTROM, Auteur ; Leena PELTONEN, Auteur . - 2011 . - p.756-765. Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139

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Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism / Joni A. TURUNEN in Autism Research, 1-3 (June 2008)  

Public ISBD [article]  inAutism Research > 1-3 (June 2008) . - p.189-192 Titre : Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism Type de document : Texte imprimé et/ou numérique Auteurs : Joni A. TURUNEN, Auteur ; Karola REHNSTROM, Auteur ; Helena KILPINEN, Auteur ; Mikko KUOKKANEN, Auteur ; Elli KEMPAS, Auteur ; Tero YLISAUKKO-OJA, Auteur Année de publication : 2008 Article en page(s) : p.189-192 Langues : Anglais (eng) Mots-clés : autism Asperger-syndrome SLC25A12 association SNP Index. décimale : PER Périodiques Résumé : Two single nucleotide polymorphisms (SNP) within Mitochondrial Aspartate/Glutamate Carrier SLC25A12 gene have recently shown to be strongly associated with autism. Here, we attempted to replicate this finding in two separate Finnish samples with autism spectrum disorders. Family-based association analysis of two SNPs, rs2056202 and rs2292813, previously shown to be associated with autism was performed in two samples with different phenotypic characteristics. The samples included 97 families with strictly defined autism and 29 extended families with Asperger syndrome (AS). We detected association at rs2292813 (FBAT, P=0.0018) in the Finnish autism sample. In, addition other family-based analysis methods supported this finding. By contrast, analysis of the AS sample yielded no evidence for association. This study shows further support that genetic variants within SLC25A12 gene contribute to the etiology of autism. En ligne : http://dx.doi.org/10.1002/aur.25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=931 [article] Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism [Texte imprimé et/ou numérique] / Joni A. TURUNEN, Auteur ; Karola REHNSTROM, Auteur ; Helena KILPINEN, Auteur ; Mikko KUOKKANEN, Auteur ; Elli KEMPAS, Auteur ; Tero YLISAUKKO-OJA, Auteur . - 2008 . - p.189-192. Langues : Anglais (eng) in Autism Research > 1-3 (June 2008) . - p.189-192 Mots-clés : autism Asperger-syndrome SLC25A12 association SNP Index. décimale : PER Périodiques Résumé : Two single nucleotide polymorphisms (SNP) within Mitochondrial Aspartate/Glutamate Carrier SLC25A12 gene have recently shown to be strongly associated with autism. Here, we attempted to replicate this finding in two separate Finnish samples with autism spectrum disorders. Family-based association analysis of two SNPs, rs2056202 and rs2292813, previously shown to be associated with autism was performed in two samples with different phenotypic characteristics. The samples included 97 families with strictly defined autism and 29 extended families with Asperger syndrome (AS). We detected association at rs2292813 (FBAT, P=0.0018) in the Finnish autism sample. In, addition other family-based analysis methods supported this finding. By contrast, analysis of the AS sample yielded no evidence for association. This study shows further support that genetic variants within SLC25A12 gene contribute to the etiology of autism. En ligne : http://dx.doi.org/10.1002/aur.25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=931

Reelin Associated With Restricted and Stereotyped Behavior Based on Principal Component Analysis on Autism Diagnostic Interview-Revised / Ulrika ROINE in Autism - Open Access, 3-1 (March 2013)  

Public ISBD [article]  inAutism - Open Access > 3-1 (March 2013) . - 9 p. Titre : Reelin Associated With Restricted and Stereotyped Behavior Based on Principal Component Analysis on Autism Diagnostic Interview-Revised Type de document : Texte imprimé et/ou numérique Auteurs : Ulrika ROINE, Auteur ; Samuli RIPATTI, Auteur ; Karola REHNSTROM, Auteur ; Timo ROINE, Auteur ; Helena KILPINEN, Auteur ; Ida SURAKKA, Auteur ; Juho WEDENOJA, Auteur ; Tero YLISAUKKO-OJA, Auteur ; Elli KEMPAS, Auteur ; Jaana WESSMAN, Auteur ; Irma MOILANEN, Auteur ; Marja-Leena MATTILA, Auteur ; Marko KIELINEN, Auteur ; Katja JUSSILA, Auteur ; Saara SUOMALAINEN, Auteur ; Esko PULKKINEN, Auteur ; Lennart VON WENDT, Auteur ; Leena PELTONEN, Auteur Année de publication : 2013 Article en page(s) : 9 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background: Twin and family studies have indicated a strong genetic component in autism spectrum disorders, and genetic studies have revealed highly heterogeneous risk factors. The range and severity of the symptom presentation also vary in the spectrum. Thus, symptom-based phenotypes are putatively more closely related to the underlying biology of autism than the end-state diagnosis. Methods: We performed principal component analysis on Autism Diagnostic Interview-Revised algorithm for 117 Finnish families and 594 families from the Autism Genetic Research Exchange (AGRE). The resulting continuous component scores were used as quantitative phenotypes in family-based association analysis. In addition, K-means clustering was performed to cluster and visualize the results of the PCA. Unaffected siblings were included in the study. Results: The components were interpreted as Social Component (SC), communication component and Restricted and Stereotyped Behavior Component (RSBC). K-means clustering showed that, especially in SC, the range of the symptom severity was increased by the siblings. The association of neuroligin 1 with SC was increased, compared to a previous study where only the end-state diagnosis was used. In RSBC, the range of the symptom severity of siblings overlapped greatly with that of patients, which could explain why no association of reelin was found in previous studies in which only the end-state diagnosis was used, but a significant association of reelin with RSBC was now found in the Finnish families (Bonferroni-corrected p=0.029 for rs362644). Although, the Finnish sample is isolated and genetically very homogeneous, compared to the heterogeneous background of AGRE families, many single-nucleotide polymorphisms in reelin, showed modest association with RSBC in the AGRE sample, too. Conclusions: This study demonstrates how the quantitative phenotypes can affect the association analyses, and yields further support to the use of siblings in the study of complex neuropsychiatric disorders. En ligne : http://dx.doi.org/10.4172/2165-7890.1000107 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=211 [article] Reelin Associated With Restricted and Stereotyped Behavior Based on Principal Component Analysis on Autism Diagnostic Interview-Revised [Texte imprimé et/ou numérique] / Ulrika ROINE, Auteur ; Samuli RIPATTI, Auteur ; Karola REHNSTROM, Auteur ; Timo ROINE, Auteur ; Helena KILPINEN, Auteur ; Ida SURAKKA, Auteur ; Juho WEDENOJA, Auteur ; Tero YLISAUKKO-OJA, Auteur ; Elli KEMPAS, Auteur ; Jaana WESSMAN, Auteur ; Irma MOILANEN, Auteur ; Marja-Leena MATTILA, Auteur ; Marko KIELINEN, Auteur ; Katja JUSSILA, Auteur ; Saara SUOMALAINEN, Auteur ; Esko PULKKINEN, Auteur ; Lennart VON WENDT, Auteur ; Leena PELTONEN, Auteur . - 2013 . - 9 p. Langues : Anglais (eng) in Autism - Open Access > 3-1 (March 2013) . - 9 p. Index. décimale : PER Périodiques Résumé : Background: Twin and family studies have indicated a strong genetic component in autism spectrum disorders, and genetic studies have revealed highly heterogeneous risk factors. The range and severity of the symptom presentation also vary in the spectrum. Thus, symptom-based phenotypes are putatively more closely related to the underlying biology of autism than the end-state diagnosis. Methods: We performed principal component analysis on Autism Diagnostic Interview-Revised algorithm for 117 Finnish families and 594 families from the Autism Genetic Research Exchange (AGRE). The resulting continuous component scores were used as quantitative phenotypes in family-based association analysis. In addition, K-means clustering was performed to cluster and visualize the results of the PCA. Unaffected siblings were included in the study. Results: The components were interpreted as Social Component (SC), communication component and Restricted and Stereotyped Behavior Component (RSBC). K-means clustering showed that, especially in SC, the range of the symptom severity was increased by the siblings. The association of neuroligin 1 with SC was increased, compared to a previous study where only the end-state diagnosis was used. In RSBC, the range of the symptom severity of siblings overlapped greatly with that of patients, which could explain why no association of reelin was found in previous studies in which only the end-state diagnosis was used, but a significant association of reelin with RSBC was now found in the Finnish families (Bonferroni-corrected p=0.029 for rs362644). Although, the Finnish sample is isolated and genetically very homogeneous, compared to the heterogeneous background of AGRE families, many single-nucleotide polymorphisms in reelin, showed modest association with RSBC in the AGRE sample, too. Conclusions: This study demonstrates how the quantitative phenotypes can affect the association analyses, and yields further support to the use of siblings in the study of complex neuropsychiatric disorders. En ligne : http://dx.doi.org/10.4172/2165-7890.1000107 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=211

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