Association testing of vasopressin receptor 1a microsatellite polymorphisms in non-clinical autism spectrum phenotypes / Tanya L. PROCYSHYN in Autism Research, 10-5 (May 2017)  

Public ISBD [article]  inAutism Research > 10-5 (May 2017) . - p.750-756 Titre : Association testing of vasopressin receptor 1a microsatellite polymorphisms in non-clinical autism spectrum phenotypes Type de document : Texte imprimé et/ou numérique Auteurs : Tanya L. PROCYSHYN, Auteur ; Peter L. HURD, Auteur ; Bernard CRESPI, Auteur Article en page(s) : p.750-756 Langues : Anglais (eng) Mots-clés : attention  autism quotient  autism spectrum  avpr1a  microsatellite analysis  rs1  rs3  vasopressin Index. décimale : PER Périodiques Résumé : Variation in the AVPR1a gene, which codes for a receptor for the neurohormone vasopressin, has been found to relate to autism risk. Interestingly, variation in this gene also relates to differences in social behaviour in non-clinical populations. Variation in this gene may affect expression of AVPR1a receptors in brain areas involved in social behaviour. Here, we tested whether AVPR1a variation was associated with Autism Quotient (AQ) scores, a questionnaire that measures non-clinical manifestations of autism, in a population of 873 healthy university students. The AVPR1a RS1 and RS3 microsatellites were examined, and variants were categorized as “long” or “short”. The RS3 long/long genotype was significantly associated with a higher AQ score (i.e., a more autistic-like phenotype) for the combined population and for females only. Further examination showed that this relationship was due to a specific RS3 variant, termed the “target allele”, which previous research has linked to reduced altruism and increased marital problems in healthy individuals. We also observed that the relationship between RS3 genotype and AQ score was mainly due to the “attention switching” (the ability to shift attention from one task to another) component of the questionnaire; this ability is commonly impaired in autism spectrum disorders. Overall, our study establishes continuity between the existing AVPR1a research in clinical and non-clinical populations. Our results suggest that vasopressin may exert its effects on social behaviour in part by modulating attentional focus between social and non-social cues. En ligne : http://dx.doi.org/10.1002/aur.1716 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=307 [article] Association testing of vasopressin receptor 1a microsatellite polymorphisms in non-clinical autism spectrum phenotypes [Texte imprimé et/ou numérique] / Tanya L. PROCYSHYN, Auteur ; Peter L. HURD, Auteur ; Bernard CRESPI, Auteur . - p.750-756. Langues : Anglais (eng) in Autism Research > 10-5 (May 2017) . - p.750-756 Mots-clés : attention  autism quotient  autism spectrum  avpr1a  microsatellite analysis  rs1  rs3  vasopressin Index. décimale : PER Périodiques Résumé : Variation in the AVPR1a gene, which codes for a receptor for the neurohormone vasopressin, has been found to relate to autism risk. Interestingly, variation in this gene also relates to differences in social behaviour in non-clinical populations. Variation in this gene may affect expression of AVPR1a receptors in brain areas involved in social behaviour. Here, we tested whether AVPR1a variation was associated with Autism Quotient (AQ) scores, a questionnaire that measures non-clinical manifestations of autism, in a population of 873 healthy university students. The AVPR1a RS1 and RS3 microsatellites were examined, and variants were categorized as “long” or “short”. The RS3 long/long genotype was significantly associated with a higher AQ score (i.e., a more autistic-like phenotype) for the combined population and for females only. Further examination showed that this relationship was due to a specific RS3 variant, termed the “target allele”, which previous research has linked to reduced altruism and increased marital problems in healthy individuals. We also observed that the relationship between RS3 genotype and AQ score was mainly due to the “attention switching” (the ability to shift attention from one task to another) component of the questionnaire; this ability is commonly impaired in autism spectrum disorders. Overall, our study establishes continuity between the existing AVPR1a research in clinical and non-clinical populations. Our results suggest that vasopressin may exert its effects on social behaviour in part by modulating attentional focus between social and non-social cues. En ligne : http://dx.doi.org/10.1002/aur.1716 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=307

SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population / Christina MANNING in Autism Research and Treatment, 2021 (2021)  

Public ISBD [article]  inAutism Research and Treatment > 2021 (2021) . - 6634584 Titre : SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population Type de document : Texte imprimé et/ou numérique Auteurs : Christina MANNING, Auteur ; Peter L. HURD, Auteur ; Silven READ, Auteur ; Bernard CRESPI, Auteur Article en page(s) : 6634584 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Mutations affecting the synaptic-scaffold gene SHANK3 represent the most common genetic causes of autism with intellectual disability, accounting for about 1-2% of cases. Rare variants of this gene have also been associated with schizophrenia, and its deletion results in the autistic condition known as Phelan–McDermid syndrome. Despite the importance of SHANK3 as a paradigmatic gene mediating neurodevelopmental disorders, its psychological effects in nonclinical populations have yet to be studied. We genotyped the nonsynonymous, functional SHANK3 SNP rs9616915 in a large population of typical individuals scored for autism spectrum traits (the Autism Quotient, AQ) and schizotypy spectrum traits (the Schizotypal Personality Questionnaire, SPQ-BR). Males, but not females, showed significant genotypic effects for the SPQ-BR subscale associated with speech and language: Odd Speech. These findings, in conjunction with animal model studies showing vocalization and auditory effects of SHANK3 mutations, and studies indicating severe language alterations and speech-associated white matter tract abnormalities in Phelan–McDermid syndrome, suggest that SHANK3 differentially affects the development and expression of human language and speech. Imaging genetic and speech-language studies of typical individuals carrying different genotypes of rs9616915 should provide novel insights into the neurological and psychological bases of speech and language alterations among individuals with SHANK3 mutations and Phelan–McDermid syndrome. En ligne : https://doi.org/10.1155/2021/6634584 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=460 [article] SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population [Texte imprimé et/ou numérique] / Christina MANNING, Auteur ; Peter L. HURD, Auteur ; Silven READ, Auteur ; Bernard CRESPI, Auteur . - 6634584. Langues : Anglais (eng) in Autism Research and Treatment > 2021 (2021) . - 6634584 Index. décimale : PER Périodiques Résumé : Mutations affecting the synaptic-scaffold gene SHANK3 represent the most common genetic causes of autism with intellectual disability, accounting for about 1-2% of cases. Rare variants of this gene have also been associated with schizophrenia, and its deletion results in the autistic condition known as Phelan–McDermid syndrome. Despite the importance of SHANK3 as a paradigmatic gene mediating neurodevelopmental disorders, its psychological effects in nonclinical populations have yet to be studied. We genotyped the nonsynonymous, functional SHANK3 SNP rs9616915 in a large population of typical individuals scored for autism spectrum traits (the Autism Quotient, AQ) and schizotypy spectrum traits (the Schizotypal Personality Questionnaire, SPQ-BR). Males, but not females, showed significant genotypic effects for the SPQ-BR subscale associated with speech and language: Odd Speech. These findings, in conjunction with animal model studies showing vocalization and auditory effects of SHANK3 mutations, and studies indicating severe language alterations and speech-associated white matter tract abnormalities in Phelan–McDermid syndrome, suggest that SHANK3 differentially affects the development and expression of human language and speech. Imaging genetic and speech-language studies of typical individuals carrying different genotypes of rs9616915 should provide novel insights into the neurological and psychological bases of speech and language alterations among individuals with SHANK3 mutations and Phelan–McDermid syndrome. En ligne : https://doi.org/10.1155/2021/6634584 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=460

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