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

Association of cumulative prenatal adversity with infant subcortical structure volumes and child problem behavior and its moderation by a coexpression polygenic risk score of the serotonin system / Henriette ACOSTA in Development and Psychopathology, 36-3 (August 2024)  

Public ISBD [article]  inDevelopment and Psychopathology > 36-3 (August 2024) . - p.1027-1042 Titre : Association of cumulative prenatal adversity with infant subcortical structure volumes and child problem behavior and its moderation by a coexpression polygenic risk score of the serotonin system Type de document : Texte imprimé et/ou numérique Auteurs : Henriette ACOSTA, Auteur ; Katri KANTOJARVI, Auteur ; Jetro J. TUULARI, Auteur ; John D. LEWIS, Auteur ; Niloofar HASHEMPOUR, Auteur ; Noora M. SCHEININ, Auteur ; Satu J. LEHTOLA, Auteur ; Saara NOLVI, Auteur ; Vladimir S. FONOV, Auteur ; D. Louis COLLINS, Auteur ; Alan C. EVANS, Auteur ; Riitta PARKKOLA, Auteur ; Tuire LÄHDESMÄKI, Auteur ; Jani SAUNAVAARA, Auteur ; Harri MERISAARI, Auteur ; Linnea KARLSSON, Auteur ; Tiina PAUNIO, Auteur ; Hasse KARLSSON, Auteur Article en page(s) : p.1027-1042 Langues : Anglais (eng) Mots-clés : MRI  SDQ  amygdala  hyperactivity  prenatal stress Index. décimale : PER Périodiques Résumé : Prenatal adversity has been linked to later psychopathology. Yet, research on cumulative prenatal adversity, as well as its interaction with offspring genotype, on brain and behavioral development is scarce. With this study, we aimed to address this gap. In Finnish mother-infant dyads, we investigated the association of a cumulative prenatal adversity sum score (PRE-AS) with (a) child emotional and behavioral problems assessed with the Strengths and Difficulties Questionnaire at 4 and 5 years (N = 1568, 45.3% female), (b) infant amygdalar and hippocampal volumes (subsample N = 122), and (c) its moderation by a hippocampal-specific coexpression polygenic risk score based on the serotonin transporter (SLC6A4) gene. We found that higher PRE-AS was linked to greater child emotional and behavioral problems at both time points, with partly stronger associations in boys than in girls. Higher PRE-AS was associated with larger bilateral infant amygdalar volumes in girls compared to boys, while no associations were found for hippocampal volumes. Further, hyperactivity/inattention in 4-year-old girls was related to both genotype and PRE-AS, the latter partially mediated by right amygdalar volumes as preliminary evidence suggests. Our study is the first to demonstrate a dose-dependent sexually dimorphic relationship between cumulative prenatal adversity and infant amygdalar volumes. En ligne : https://dx.doi.org/10.1017/S0954579423000275 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538 [article] Association of cumulative prenatal adversity with infant subcortical structure volumes and child problem behavior and its moderation by a coexpression polygenic risk score of the serotonin system [Texte imprimé et/ou numérique] / Henriette ACOSTA, Auteur ; Katri KANTOJARVI, Auteur ; Jetro J. TUULARI, Auteur ; John D. LEWIS, Auteur ; Niloofar HASHEMPOUR, Auteur ; Noora M. SCHEININ, Auteur ; Satu J. LEHTOLA, Auteur ; Saara NOLVI, Auteur ; Vladimir S. FONOV, Auteur ; D. Louis COLLINS, Auteur ; Alan C. EVANS, Auteur ; Riitta PARKKOLA, Auteur ; Tuire LÄHDESMÄKI, Auteur ; Jani SAUNAVAARA, Auteur ; Harri MERISAARI, Auteur ; Linnea KARLSSON, Auteur ; Tiina PAUNIO, Auteur ; Hasse KARLSSON, Auteur . - p.1027-1042. Langues : Anglais (eng) in Development and Psychopathology > 36-3 (August 2024) . - p.1027-1042 Mots-clés : MRI  SDQ  amygdala  hyperactivity  prenatal stress Index. décimale : PER Périodiques Résumé : Prenatal adversity has been linked to later psychopathology. Yet, research on cumulative prenatal adversity, as well as its interaction with offspring genotype, on brain and behavioral development is scarce. With this study, we aimed to address this gap. In Finnish mother-infant dyads, we investigated the association of a cumulative prenatal adversity sum score (PRE-AS) with (a) child emotional and behavioral problems assessed with the Strengths and Difficulties Questionnaire at 4 and 5 years (N = 1568, 45.3% female), (b) infant amygdalar and hippocampal volumes (subsample N = 122), and (c) its moderation by a hippocampal-specific coexpression polygenic risk score based on the serotonin transporter (SLC6A4) gene. We found that higher PRE-AS was linked to greater child emotional and behavioral problems at both time points, with partly stronger associations in boys than in girls. Higher PRE-AS was associated with larger bilateral infant amygdalar volumes in girls compared to boys, while no associations were found for hippocampal volumes. Further, hyperactivity/inattention in 4-year-old girls was related to both genotype and PRE-AS, the latter partially mediated by right amygdalar volumes as preliminary evidence suggests. Our study is the first to demonstrate a dose-dependent sexually dimorphic relationship between cumulative prenatal adversity and infant amygdalar volumes. En ligne : https://dx.doi.org/10.1017/S0954579423000275 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538

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

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

Public ISBD [article]  inAutism Research > 9-1 (January 2016) . - p.9-16 Titre : The landscape of copy number variations in Finnish families with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Chakravarthi KANDURI, Auteur ; Katri KANTOJARVI, Auteur ; Paula M. SALO, Auteur ; Raija VANHALA, Auteur ; Gemma BUCK, Auteur ; Christine BLANCHER, Auteur ; Harri LÄHDESMÄKI, Auteur ; Irma JARVELA, Auteur Article en page(s) : p.9-16 Langues : Anglais (eng) Mots-clés : autism spectrum disorders  copy number variations  Finnish population  genome wide SNP arrays Index. décimale : PER Périodiques Résumé : Rare de novo and inherited copy number variations (CNVs) have been implicated in autism spectrum disorder (ASD) risk. However, the genetic underpinnings of ASD remain unknown in more than 80% of cases. Therefore, identification of novel candidate genes and corroboration of known candidate genes may broaden the horizons of determining genetic risk alleles, and subsequent development of diagnostic testing. Here, using genotyping arrays, we characterized the genetic architecture of rare CNVs (<1% frequency) in a Finnish case–control dataset. Unsurprisingly, ASD cases harbored a significant excess of rare, large (>1 Mb) CNVs and rare, exonic CNVs. The exonic rare de novo CNV rate (?22.5%) seemed higher compared to previous reports. We identified several CNVs in well-known ASD regions including GSTM1-5, DISC1, FHIT, RBFOX1, CHRNA7, 15q11.2, 15q13.2-q13.3, 17q12, and 22q11.21. Additionally, several novel candidate genes (BDKRB1, BDKRB2, AP2M1, SPTA1, PTH1R, CYP2E1, PLCD3, F2RL1, UQCRC2, LILRB3, RPS9, and COL11A2) were identified through gene prioritization. The majority of these genes belong to neuroactive ligand–receptor interaction pathways, and calcium signaling pathways, thus suggesting that a subset of these novel candidate genes may contribute to ASD risk. Furthermore, several metabolic pathways like caffeine metabolism, drug metabolism, retinol metabolism, and calcium-signaling pathway were found to be affected by the rare exonic ASD CNVs. Additionally, biological processes such as bradykinin receptor activity, endoderm formation and development, and oxidoreductase activity were enriched among the rare exonic ASD CNVs. Overall, our findings may add data about new genes and pathways that contribute to the genetic architecture of ASD. En ligne : http://dx.doi.org/10.1002/aur.1502 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282 [article] The landscape of copy number variations in Finnish families with autism spectrum disorders [Texte imprimé et/ou numérique] / Chakravarthi KANDURI, Auteur ; Katri KANTOJARVI, Auteur ; Paula M. SALO, Auteur ; Raija VANHALA, Auteur ; Gemma BUCK, Auteur ; Christine BLANCHER, Auteur ; Harri LÄHDESMÄKI, Auteur ; Irma JARVELA, Auteur . - p.9-16. Langues : Anglais (eng) in Autism Research > 9-1 (January 2016) . - p.9-16 Mots-clés : autism spectrum disorders  copy number variations  Finnish population  genome wide SNP arrays Index. décimale : PER Périodiques Résumé : Rare de novo and inherited copy number variations (CNVs) have been implicated in autism spectrum disorder (ASD) risk. However, the genetic underpinnings of ASD remain unknown in more than 80% of cases. Therefore, identification of novel candidate genes and corroboration of known candidate genes may broaden the horizons of determining genetic risk alleles, and subsequent development of diagnostic testing. Here, using genotyping arrays, we characterized the genetic architecture of rare CNVs (<1% frequency) in a Finnish case–control dataset. Unsurprisingly, ASD cases harbored a significant excess of rare, large (>1 Mb) CNVs and rare, exonic CNVs. The exonic rare de novo CNV rate (?22.5%) seemed higher compared to previous reports. We identified several CNVs in well-known ASD regions including GSTM1-5, DISC1, FHIT, RBFOX1, CHRNA7, 15q11.2, 15q13.2-q13.3, 17q12, and 22q11.21. Additionally, several novel candidate genes (BDKRB1, BDKRB2, AP2M1, SPTA1, PTH1R, CYP2E1, PLCD3, F2RL1, UQCRC2, LILRB3, RPS9, and COL11A2) were identified through gene prioritization. The majority of these genes belong to neuroactive ligand–receptor interaction pathways, and calcium signaling pathways, thus suggesting that a subset of these novel candidate genes may contribute to ASD risk. Furthermore, several metabolic pathways like caffeine metabolism, drug metabolism, retinol metabolism, and calcium-signaling pathway were found to be affected by the rare exonic ASD CNVs. Additionally, biological processes such as bradykinin receptor activity, endoderm formation and development, and oxidoreductase activity were enriched among the rare exonic ASD CNVs. Overall, our findings may add data about new genes and pathways that contribute to the genetic architecture of ASD. En ligne : http://dx.doi.org/10.1002/aur.1502 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282

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