Association and Promoter Analysis of AVPR1A in Finnish Autism Families / Katri KANTOJARVI in Autism Research, 8-5 (October 2015)  

Public ISBD [article]  inAutism Research > 8-5 (October 2015) . - p.634-639 Titre : Association and Promoter Analysis of AVPR1A in Finnish Autism Families Type de document : Texte imprimé et/ou numérique Auteurs : Katri KANTOJARVI, Auteur ; Jaana OIKKONEN, Auteur ; Ilona KOTALA, Auteur ; Jenni KALLELA, Auteur ; Raija VANHALA, Auteur ; Päivi ONKAMO, Auteur ; Irma JARVELA, Auteur Article en page(s) : p.634-639 Langues : Anglais (eng) Mots-clés : autism  AVPR1A  association  transcription factors  network analysis  promoter analysis  MEF2C  PBX Index. décimale : PER Périodiques Résumé : The arginine vasopressin receptor 1A gene (AVPR1A) is known to affect social communication and has been reported to associate with autism in several studies. Given that the microsatellite RS1 and a few SNPs in the promoter region of the AVPR1A have repeatedly associated with several traits, including autism it is rather surprising that the molecular explanation for these associations has remained unknown, although it has been reported that the allele length of the AVPR1A microsatellites might affect disease risk. Here we carried out an extended association analysis of three microsatellites and 12 tag single nucleotide polymorphisms (SNPs) in and around the AVPR1A gene in 205 Finnish families followed by promoter analysis. FBAT version v2.0.3 was used for family-based genetic association analyses of AVPR1A microsatellites and SNPs. The nearby microsatellite RS1 was found to harbor the best association. Interestingly, there are two potentially relevant transcription factor (TF) binding sites at RS1: for MEF2C and PBX, predicted with the Match algorithm in the TRANSFAC® database. Sequence variations changing the affinity of these TFs might partly explain the AVPR1A promoter region associations shown in autism. Autism Res 2015, 8: 634–639. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1473 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270 [article] Association and Promoter Analysis of AVPR1A in Finnish Autism Families [Texte imprimé et/ou numérique] / Katri KANTOJARVI, Auteur ; Jaana OIKKONEN, Auteur ; Ilona KOTALA, Auteur ; Jenni KALLELA, Auteur ; Raija VANHALA, Auteur ; Päivi ONKAMO, Auteur ; Irma JARVELA, Auteur . - p.634-639. Langues : Anglais (eng) in Autism Research > 8-5 (October 2015) . - p.634-639 Mots-clés : autism  AVPR1A  association  transcription factors  network analysis  promoter analysis  MEF2C  PBX Index. décimale : PER Périodiques Résumé : The arginine vasopressin receptor 1A gene (AVPR1A) is known to affect social communication and has been reported to associate with autism in several studies. Given that the microsatellite RS1 and a few SNPs in the promoter region of the AVPR1A have repeatedly associated with several traits, including autism it is rather surprising that the molecular explanation for these associations has remained unknown, although it has been reported that the allele length of the AVPR1A microsatellites might affect disease risk. Here we carried out an extended association analysis of three microsatellites and 12 tag single nucleotide polymorphisms (SNPs) in and around the AVPR1A gene in 205 Finnish families followed by promoter analysis. FBAT version v2.0.3 was used for family-based genetic association analyses of AVPR1A microsatellites and SNPs. The nearby microsatellite RS1 was found to harbor the best association. Interestingly, there are two potentially relevant transcription factor (TF) binding sites at RS1: for MEF2C and PBX, predicted with the Match algorithm in the TRANSFAC® database. Sequence variations changing the affinity of these TFs might partly explain the AVPR1A promoter region associations shown in autism. Autism Res 2015, 8: 634–639. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1473 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270

Brief Report: Syndromes in Autistic Children in a Finnish Birth Cohort / Laura TIMONEN-SOIVIO in Journal of Autism and Developmental Disorders, 46-8 (August 2016)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2780-2784 Titre : Brief Report: Syndromes in Autistic Children in a Finnish Birth Cohort Type de document : Texte imprimé et/ou numérique Auteurs : Laura TIMONEN-SOIVIO, Auteur ; Raija VANHALA, Auteur ; Heli MALM, Auteur ; Susanna HINKKA-YLI-SALOMAKI, Auteur ; Mika GISSLER, Auteur ; Alan S. BROWN, Auteur ; Andre SOURANDER, Auteur Article en page(s) : p.2780-2784 Langues : Anglais (eng) Mots-clés : Syndromic autism  Chromosomal abnormalities  Autism spectrum disorder  Single gene disorders Index. décimale : PER Périodiques Résumé : We studied the association between specific congenital syndromes and autism spectrum disorders (ASD) in the large Finnish Register material. Our data include all children diagnosed with ASD (n = 4441) according to Finnish Hospital Discharge Register in 1987–2000. Four controls per each case were matched to sex, birthplace, date of birth (±30 days) and residence in Finland (n = 17,695). The prevalence of specific congenital syndromes in the Finnish Register of Congenital Malformations was evaluated among the ASD group and the controls by sex. The results of this study suggest that there is an association between several etiologically different syndromes and ASD when compared to controls without ASD. Statistically significant associations were observed with 47,XYY, Sotos syndrome, neurofibromatosis I, and syndrome not otherwise specified. Syndromes were more common among males with ASD compared to controls. These results support the previous studies of etiological heterogeneity of ASD and have importance in clinical examination, management and rehabilitation. En ligne : http://dx.doi.org/10.1007/s10803-016-2789-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291 [article] Brief Report: Syndromes in Autistic Children in a Finnish Birth Cohort [Texte imprimé et/ou numérique] / Laura TIMONEN-SOIVIO, Auteur ; Raija VANHALA, Auteur ; Heli MALM, Auteur ; Susanna HINKKA-YLI-SALOMAKI, Auteur ; Mika GISSLER, Auteur ; Alan S. BROWN, Auteur ; Andre SOURANDER, Auteur . - p.2780-2784. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2780-2784 Mots-clés : Syndromic autism  Chromosomal abnormalities  Autism spectrum disorder  Single gene disorders Index. décimale : PER Périodiques Résumé : We studied the association between specific congenital syndromes and autism spectrum disorders (ASD) in the large Finnish Register material. Our data include all children diagnosed with ASD (n = 4441) according to Finnish Hospital Discharge Register in 1987–2000. Four controls per each case were matched to sex, birthplace, date of birth (±30 days) and residence in Finland (n = 17,695). The prevalence of specific congenital syndromes in the Finnish Register of Congenital Malformations was evaluated among the ASD group and the controls by sex. The results of this study suggest that there is an association between several etiologically different syndromes and ASD when compared to controls without ASD. Statistically significant associations were observed with 47,XYY, Sotos syndrome, neurofibromatosis I, and syndrome not otherwise specified. Syndromes were more common among males with ASD compared to controls. These results support the previous studies of etiological heterogeneity of ASD and have importance in clinical examination, management and rehabilitation. En ligne : http://dx.doi.org/10.1007/s10803-016-2789-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291

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

Sleep in Children with Asperger Syndrome / E. Juulia PAAVONEN in Journal of Autism and Developmental Disorders, 38-1 (January 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-1 (January 2008) . - p.41-51 Titre : Sleep in Children with Asperger Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : E. Juulia PAAVONEN, Auteur ; Kimmo VEHKALAHTI, Auteur ; Raija VANHALA, Auteur ; Lennart VON WENDT, Auteur ; Taina NIEMINEN-VON WENDT, Auteur ; Eeva T. ARONEN, Auteur Année de publication : 2008 Article en page(s) : p.41-51 Langues : Anglais (eng) Mots-clés : Asperger-syndrome Children Sleep Sleepiness Sleep-disturbances Index. décimale : PER Périodiques Résumé : The prevalence of sleep disturbances in 52 children with Asperger syndrome (AS) as compared with 61 healthy controls (all subjects aged 5–17 years) was investigated. Problems with sleep onset and maintenance, sleep-related fears, negative attitudes toward sleeping, and daytime somnolence were more frequent among children with AS than among controls. Short sleep duration (<9 h) was almost twofold (59% vs. 32%), and the risk for sleep onset problems more than fivefold (53% vs. 10%) more common in the AS group than in the control group. Child-reported sleeping problems were also more prevalent in the AS group than in controls (58% vs. 7%). The results suggest that sleep disturbances should be routinely evaluated in children with AS. En ligne : http://dx.doi.org/10.1007/s10803-007-0360-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=315 [article] Sleep in Children with Asperger Syndrome [Texte imprimé et/ou numérique] / E. Juulia PAAVONEN, Auteur ; Kimmo VEHKALAHTI, Auteur ; Raija VANHALA, Auteur ; Lennart VON WENDT, Auteur ; Taina NIEMINEN-VON WENDT, Auteur ; Eeva T. ARONEN, Auteur . - 2008 . - p.41-51. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-1 (January 2008) . - p.41-51 Mots-clés : Asperger-syndrome Children Sleep Sleepiness Sleep-disturbances Index. décimale : PER Périodiques Résumé : The prevalence of sleep disturbances in 52 children with Asperger syndrome (AS) as compared with 61 healthy controls (all subjects aged 5–17 years) was investigated. Problems with sleep onset and maintenance, sleep-related fears, negative attitudes toward sleeping, and daytime somnolence were more frequent among children with AS than among controls. Short sleep duration (<9 h) was almost twofold (59% vs. 32%), and the risk for sleep onset problems more than fivefold (53% vs. 10%) more common in the AS group than in the control group. Child-reported sleeping problems were also more prevalent in the AS group than in controls (58% vs. 7%). The results suggest that sleep disturbances should be routinely evaluated in children with AS. En ligne : http://dx.doi.org/10.1007/s10803-007-0360-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=315

The Association Between Autism Spectrum Disorders and Congenital Anomalies by Organ Systems in a Finnish National Birth Cohort / Laura TIMONEN-SOIVIO in Journal of Autism and Developmental Disorders, 45-10 (October 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-10 (October 2015) . - p.3195-3203 Titre : The Association Between Autism Spectrum Disorders and Congenital Anomalies by Organ Systems in a Finnish National Birth Cohort Type de document : Texte imprimé et/ou numérique Auteurs : Laura TIMONEN-SOIVIO, Auteur ; Andre SOURANDER, Auteur ; Heli MALM, Auteur ; Susanna HINKKA-YLI-SALOMAKI, Auteur ; Mika GISSLER, Auteur ; Alan S. BROWN, Auteur ; Raija VANHALA, Auteur Article en page(s) : p.3195-3203 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Congenital anomalies  Malformations  Birth defects Index. décimale : PER Périodiques Résumé : The aim of this study was to evaluate the association between autism spectrum disorders (ASD) with and without intellectual disability (ID) and congenital anomalies (CAs) by organ system. The sample included all children diagnosed with ASD (n = 4441) from the Finnish Hospital Discharge Register during 1987–2000 and a total of four controls per case (n = 17,695). CAs of the eye, central nervous system, and specific craniofacial anomalies were most strongly associated with ASD. Children with ASD and co-occurring ID were more likely to have CAs compared to ASD children without ID. The results suggest that some cases of ASD may originate during organogenesis, in the early first trimester of pregnancy. The results of this study may be useful for identifying prenatal etiological factors and elucidating the molecular pathogenesis of ASD. En ligne : http://dx.doi.org/10.1007/s10803-015-2477-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=267 [article] The Association Between Autism Spectrum Disorders and Congenital Anomalies by Organ Systems in a Finnish National Birth Cohort [Texte imprimé et/ou numérique] / Laura TIMONEN-SOIVIO, Auteur ; Andre SOURANDER, Auteur ; Heli MALM, Auteur ; Susanna HINKKA-YLI-SALOMAKI, Auteur ; Mika GISSLER, Auteur ; Alan S. BROWN, Auteur ; Raija VANHALA, Auteur . - p.3195-3203. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-10 (October 2015) . - p.3195-3203 Mots-clés : Autism spectrum disorders  Congenital anomalies  Malformations  Birth defects Index. décimale : PER Périodiques Résumé : The aim of this study was to evaluate the association between autism spectrum disorders (ASD) with and without intellectual disability (ID) and congenital anomalies (CAs) by organ system. The sample included all children diagnosed with ASD (n = 4441) from the Finnish Hospital Discharge Register during 1987–2000 and a total of four controls per case (n = 17,695). CAs of the eye, central nervous system, and specific craniofacial anomalies were most strongly associated with ASD. Children with ASD and co-occurring ID were more likely to have CAs compared to ASD children without ID. The results suggest that some cases of ASD may originate during organogenesis, in the early first trimester of pregnancy. The results of this study may be useful for identifying prenatal etiological factors and elucidating the molecular pathogenesis of ASD. En ligne : http://dx.doi.org/10.1007/s10803-015-2477-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=267

The landscape of copy number variations in Finnish families with autism spectrum disorders / Chakravarthi KANDURI in Autism Research, 9-1 (January 2016)  

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