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Auteur Louise GALLAGHER |
Documents disponibles écrits par cet auteur (13)
Faire une suggestion Affiner la rechercheAtypical Visuospatial Processing in Autism: Insights from Functional Connectivity Analysis / Jane MCGRATH in Autism Research, 5-5 (October 2012)
Titre : Atypical Visuospatial Processing in Autism: Insights from Functional Connectivity Analysis Type de document : Texte imprimé et/ou numérique Auteurs : Jane MCGRATH, Auteur ; Katherine A. JOHNSON, Auteur ; Christine ECKER, Auteur ; Erik O'HANLON, Auteur ; Michael GILL, Auteur ; Louise GALLAGHER, Auteur ; Hugh GARAVAN, Auteur Article en page(s) : p.314-330 Langues : Anglais (eng) Mots-clés : autism functional MRI visuospatial processing mental rotation functional connectivity Index. décimale : PER Périodiques Résumé : Atypical visuospatial processing is commonly described in autism spectrum disorders (ASDs); however the specific neurobiological underpinnings of this phenomenon are poorly understood. Given the extensive evidence suggesting ASDs are characterized by abnormal neural connectivity, this study aimed to investigate network connectivity during visuospatial processing in ASD. Twenty-two males with ASD without intellectual disability and 22 individually matched controls performed a mental rotation task during functional magnetic resonance imaging (MRI) in which two rotated stimuli were judged to be same (“Same Trials”) or mirror-imaged (“Mirror Trials”). Behavioral results revealed a relative advantage of mental rotation in the ASD group—controls were slower responding to the more difficult Mirror Trials than Same Trials whereas the ASD group completed Mirror Trials and Same-trials at similar speeds. In the ASD group, brain activity was reduced in frontal, temporal, occipital, striatal, and cerebellar regions and, consistent with previous literature, functional connectivity between a number of brain regions was reduced. However, some connections appeared to be conserved and were recruited in a qualitatively different way by the two groups. As task difficulty increased (on Mirror Trials), controls tended to increase connections between certain brain regions, whereas the ASD group appeared to suppress connections between these regions. There was an interesting exception to this pattern in the visual cortex, a finding that may suggest an advantage in early visual perceptual processing in ASD. Overall, this study has identified a relative advantage in mental rotation in ASD that is associated with aberrant neural connectivity and that may stem from enhanced visual perceptual processing. Autism Res 2012, 5: 314–330. © 2012 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1245 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=183
in Autism Research > 5-5 (October 2012) . - p.314-330[article] Atypical Visuospatial Processing in Autism: Insights from Functional Connectivity Analysis [Texte imprimé et/ou numérique] / Jane MCGRATH, Auteur ; Katherine A. JOHNSON, Auteur ; Christine ECKER, Auteur ; Erik O'HANLON, Auteur ; Michael GILL, Auteur ; Louise GALLAGHER, Auteur ; Hugh GARAVAN, Auteur . - p.314-330.
Langues : Anglais (eng)
in Autism Research > 5-5 (October 2012) . - p.314-330
Mots-clés : autism functional MRI visuospatial processing mental rotation functional connectivity Index. décimale : PER Périodiques Résumé : Atypical visuospatial processing is commonly described in autism spectrum disorders (ASDs); however the specific neurobiological underpinnings of this phenomenon are poorly understood. Given the extensive evidence suggesting ASDs are characterized by abnormal neural connectivity, this study aimed to investigate network connectivity during visuospatial processing in ASD. Twenty-two males with ASD without intellectual disability and 22 individually matched controls performed a mental rotation task during functional magnetic resonance imaging (MRI) in which two rotated stimuli were judged to be same (“Same Trials”) or mirror-imaged (“Mirror Trials”). Behavioral results revealed a relative advantage of mental rotation in the ASD group—controls were slower responding to the more difficult Mirror Trials than Same Trials whereas the ASD group completed Mirror Trials and Same-trials at similar speeds. In the ASD group, brain activity was reduced in frontal, temporal, occipital, striatal, and cerebellar regions and, consistent with previous literature, functional connectivity between a number of brain regions was reduced. However, some connections appeared to be conserved and were recruited in a qualitatively different way by the two groups. As task difficulty increased (on Mirror Trials), controls tended to increase connections between certain brain regions, whereas the ASD group appeared to suppress connections between these regions. There was an interesting exception to this pattern in the visual cortex, a finding that may suggest an advantage in early visual perceptual processing in ASD. Overall, this study has identified a relative advantage in mental rotation in ASD that is associated with aberrant neural connectivity and that may stem from enhanced visual perceptual processing. Autism Res 2012, 5: 314–330. © 2012 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1245 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=183
Titre : Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism Type de document : Texte imprimé et/ou numérique Auteurs : Fiana NI GHRALAIGH, Auteur ; Ellen MCCARTHY, Auteur ; Daniel N. MURPHY, Auteur ; Louise GALLAGHER, Auteur ; Lorna M. LOPEZ, Auteur Article en page(s) : p.484-488 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism is a prevalent neurodevelopmental condition, highly heterogenous in both genotype and phenotype. This communication adds to existing discussion of the heterogeneity of clinical sequencing tests, œgene panels , marketed for application in autism. We evaluate the clinical utility of available gene panels based on existing genetic evidence. We determine that diagnostic yields of these gene panels range from 0.22% to 10.02% and gene selection for the panels is variable in relevance, here measured as percentage overlap with SFARI Gene and ranging from 15.15% to 100%. We conclude that gene panels marketed for use in autism are currently of limited clinical utility, and that sequencing with greater coverage may be more appropriate. En ligne : https://doi.org/10.1007/s10803-021-05417-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=493
in Journal of Autism and Developmental Disorders > 53-1 (January 2023) . - p.484-488[article] Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism [Texte imprimé et/ou numérique] / Fiana NI GHRALAIGH, Auteur ; Ellen MCCARTHY, Auteur ; Daniel N. MURPHY, Auteur ; Louise GALLAGHER, Auteur ; Lorna M. LOPEZ, Auteur . - p.484-488.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 53-1 (January 2023) . - p.484-488
Index. décimale : PER Périodiques Résumé : Autism is a prevalent neurodevelopmental condition, highly heterogenous in both genotype and phenotype. This communication adds to existing discussion of the heterogeneity of clinical sequencing tests, œgene panels , marketed for application in autism. We evaluate the clinical utility of available gene panels based on existing genetic evidence. We determine that diagnostic yields of these gene panels range from 0.22% to 10.02% and gene selection for the panels is variable in relevance, here measured as percentage overlap with SFARI Gene and ranging from 15.15% to 100%. We conclude that gene panels marketed for use in autism are currently of limited clinical utility, and that sequencing with greater coverage may be more appropriate. En ligne : https://doi.org/10.1007/s10803-021-05417-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=493
Titre : CRISIS AFAR: an international collaborative study of the impact of the COVID-19 pandemic on mental health and service access in youth with autism and neurodevelopmental conditions Type de document : Texte imprimé et/ou numérique Auteurs : Patricia SEGURA, Auteur ; Louise GALLAGHER, Auteur ; Stelios GEORGIADES, Auteur ; Panagiota PERVANIDOU, Auteur ; Audrey THURM, Auteur ; Lindsay ALEXANDER, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Yuta AOKI, Auteur ; Catherine S. BIRKEN, Auteur ; Somer L. BISHOP, Auteur ; Jessica BOI, Auteur ; Carmela BRAVACCIO, Auteur ; Helena BRENTANI, Auteur ; Paola CANEVINI, Auteur ; Alessandra CARTA, Auteur ; Alice CHARACH, Auteur ; Antonella COSTANTINO, Auteur ; Katherine T. COST, Auteur ; Elaine A. CRAVO, Auteur ; Jennifer CROSBIE, Auteur ; Chiara DAVICO, Auteur ; Federica DONNO, Auteur ; Junya FUJINO, Auteur ; Alessandra GABELLONE, Auteur ; Cristiane T. GEYER, Auteur ; Tomoya HIROTA, Auteur ; Stephen KANNE, Auteur ; Makiko KAWASHIMA, Auteur ; Elizabeth KELLEY, Auteur ; Hosanna KIM, Auteur ; Young Shin KIM, Auteur ; So Hyun KIM, Auteur ; Daphne J. KORCZAK, Auteur ; Meng-Chuan LAI, Auteur ; Lucia MARGARI, Auteur ; Lucia MARZULLI, Auteur ; Gabriele MASI, Auteur ; Luigi MAZZONE, Auteur ; Jane MCGRATH, Auteur ; Suneeta MONGA, Auteur ; Paola MOROSINI, Auteur ; Shinichiro NAKAJIMA, Auteur ; Antonio NARZISI, Auteur ; Rob NICOLSON, Auteur ; Aki NIKOLAIDIS, Auteur ; Yoshihiro NODA, Auteur ; Kerri NOWELL, Auteur ; Miriam POLIZZI, Auteur ; Joana PORTOLESE, Auteur ; Maria Pia RICCIO, Auteur ; Manabu SAITO, Auteur ; Ida SCHWARTZ, Auteur ; Anish K. SIMHAL, Auteur ; Martina SIRACUSANO, Auteur ; Stefano SOTGIU, Auteur ; Jacob STROUD, Auteur ; Fernando SUMIYA, Auteur ; Yoshiyuki TACHIBANA, Auteur ; Nicole TAKAHASHI, Auteur ; Riina TAKAHASHI, Auteur ; Hiroki TAMON, Auteur ; Raffaella TANCREDI, Auteur ; Benedetto VITIELLO, Auteur ; Alessandro ZUDDAS, Auteur ; Bennett LEVENTHAL, Auteur ; Kathleen MERIKANGAS, Auteur ; Michael P. MILHAM, Auteur ; Adriana DI MARTINO, Auteur Article en page(s) : 7 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Heterogeneous mental health outcomes during the COVID-19 pandemic are documented in the general population. Such heterogeneity has not been systematically assessed in youth with autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDD). To identify distinct patterns of the pandemic impact and their predictors in ASD/NDD youth, we focused on pandemic-related changes in symptoms and access to services. METHODS: Using a naturalistic observational design, we assessed parent responses on the Coronavirus Health and Impact Survey Initiative (CRISIS) Adapted For Autism and Related neurodevelopmental conditions (AFAR). Cross-sectional AFAR data were aggregated across 14 European and North American sites yielding a clinically well-characterized sample of N=1275 individuals with ASD/NDD (age=11.0?+?3.6 years; n females=277). To identify subgroups with differential outcomes, we applied hierarchical clustering across eleven variables measuring changes in symptoms and access to services. Then, random forest classification assessed the importance of socio-demographics, pre-pandemic service rates, clinical severity of ASD-associated symptoms, and COVID-19 pandemic experiences/environments in predicting the outcome subgroups. RESULTS: Clustering revealed four subgroups. One subgroup-broad symptom worsening only (20%)-included youth with worsening across a range of symptoms but with service disruptions similar to the average of the aggregate sample. The other three subgroups were, relatively, clinically stable but differed in service access: primarily modified services (23%), primarily lost services (6%), and average services/symptom changes (53%). Distinct combinations of a set of pre-pandemic services, pandemic environment (e.g., COVID-19 new cases, restrictions), experiences (e.g., COVID-19 Worries), and age predicted each outcome subgroup. LIMITATIONS: Notable limitations of the study are its cross-sectional nature and focus on the first six months of the pandemic. CONCLUSIONS: Concomitantly assessing variation in changes of symptoms and service access during the first phase of the pandemic revealed differential outcome profiles in ASD/NDD youth. Subgroups were characterized by distinct prediction patterns across a set of pre- and pandemic-related experiences/contexts. Results may inform recovery efforts and preparedness in future crises; they also underscore the critical value of international data-sharing and collaborations to address the needs of those most vulnerable in times of crisis. En ligne : http://dx.doi.org/10.1186/s13229-022-00536-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513
in Molecular Autism > 14 (2023) . - 7 p.[article] CRISIS AFAR: an international collaborative study of the impact of the COVID-19 pandemic on mental health and service access in youth with autism and neurodevelopmental conditions [Texte imprimé et/ou numérique] / Patricia SEGURA, Auteur ; Louise GALLAGHER, Auteur ; Stelios GEORGIADES, Auteur ; Panagiota PERVANIDOU, Auteur ; Audrey THURM, Auteur ; Lindsay ALEXANDER, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Yuta AOKI, Auteur ; Catherine S. BIRKEN, Auteur ; Somer L. BISHOP, Auteur ; Jessica BOI, Auteur ; Carmela BRAVACCIO, Auteur ; Helena BRENTANI, Auteur ; Paola CANEVINI, Auteur ; Alessandra CARTA, Auteur ; Alice CHARACH, Auteur ; Antonella COSTANTINO, Auteur ; Katherine T. COST, Auteur ; Elaine A. CRAVO, Auteur ; Jennifer CROSBIE, Auteur ; Chiara DAVICO, Auteur ; Federica DONNO, Auteur ; Junya FUJINO, Auteur ; Alessandra GABELLONE, Auteur ; Cristiane T. GEYER, Auteur ; Tomoya HIROTA, Auteur ; Stephen KANNE, Auteur ; Makiko KAWASHIMA, Auteur ; Elizabeth KELLEY, Auteur ; Hosanna KIM, Auteur ; Young Shin KIM, Auteur ; So Hyun KIM, Auteur ; Daphne J. KORCZAK, Auteur ; Meng-Chuan LAI, Auteur ; Lucia MARGARI, Auteur ; Lucia MARZULLI, Auteur ; Gabriele MASI, Auteur ; Luigi MAZZONE, Auteur ; Jane MCGRATH, Auteur ; Suneeta MONGA, Auteur ; Paola MOROSINI, Auteur ; Shinichiro NAKAJIMA, Auteur ; Antonio NARZISI, Auteur ; Rob NICOLSON, Auteur ; Aki NIKOLAIDIS, Auteur ; Yoshihiro NODA, Auteur ; Kerri NOWELL, Auteur ; Miriam POLIZZI, Auteur ; Joana PORTOLESE, Auteur ; Maria Pia RICCIO, Auteur ; Manabu SAITO, Auteur ; Ida SCHWARTZ, Auteur ; Anish K. SIMHAL, Auteur ; Martina SIRACUSANO, Auteur ; Stefano SOTGIU, Auteur ; Jacob STROUD, Auteur ; Fernando SUMIYA, Auteur ; Yoshiyuki TACHIBANA, Auteur ; Nicole TAKAHASHI, Auteur ; Riina TAKAHASHI, Auteur ; Hiroki TAMON, Auteur ; Raffaella TANCREDI, Auteur ; Benedetto VITIELLO, Auteur ; Alessandro ZUDDAS, Auteur ; Bennett LEVENTHAL, Auteur ; Kathleen MERIKANGAS, Auteur ; Michael P. MILHAM, Auteur ; Adriana DI MARTINO, Auteur . - 7 p.
Langues : Anglais (eng)
in Molecular Autism > 14 (2023) . - 7 p.
Index. décimale : PER Périodiques Résumé : BACKGROUND: Heterogeneous mental health outcomes during the COVID-19 pandemic are documented in the general population. Such heterogeneity has not been systematically assessed in youth with autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDD). To identify distinct patterns of the pandemic impact and their predictors in ASD/NDD youth, we focused on pandemic-related changes in symptoms and access to services. METHODS: Using a naturalistic observational design, we assessed parent responses on the Coronavirus Health and Impact Survey Initiative (CRISIS) Adapted For Autism and Related neurodevelopmental conditions (AFAR). Cross-sectional AFAR data were aggregated across 14 European and North American sites yielding a clinically well-characterized sample of N=1275 individuals with ASD/NDD (age=11.0?+?3.6 years; n females=277). To identify subgroups with differential outcomes, we applied hierarchical clustering across eleven variables measuring changes in symptoms and access to services. Then, random forest classification assessed the importance of socio-demographics, pre-pandemic service rates, clinical severity of ASD-associated symptoms, and COVID-19 pandemic experiences/environments in predicting the outcome subgroups. RESULTS: Clustering revealed four subgroups. One subgroup-broad symptom worsening only (20%)-included youth with worsening across a range of symptoms but with service disruptions similar to the average of the aggregate sample. The other three subgroups were, relatively, clinically stable but differed in service access: primarily modified services (23%), primarily lost services (6%), and average services/symptom changes (53%). Distinct combinations of a set of pre-pandemic services, pandemic environment (e.g., COVID-19 new cases, restrictions), experiences (e.g., COVID-19 Worries), and age predicted each outcome subgroup. LIMITATIONS: Notable limitations of the study are its cross-sectional nature and focus on the first six months of the pandemic. CONCLUSIONS: Concomitantly assessing variation in changes of symptoms and service access during the first phase of the pandemic revealed differential outcome profiles in ASD/NDD youth. Subgroups were characterized by distinct prediction patterns across a set of pre- and pandemic-related experiences/contexts. Results may inform recovery efforts and preparedness in future crises; they also underscore the critical value of international data-sharing and collaborations to address the needs of those most vulnerable in times of crisis. En ligne : http://dx.doi.org/10.1186/s13229-022-00536-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513
Titre : Disrupted Functional Connectivity in Dorsal and Ventral Attention Networks During Attention Orienting in Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Jacqueline FITZGERALD, Auteur ; Katherine JOHNSON, Auteur ; Elizabeth KEHOE, Auteur ; Arun L. W. BOKDE, Auteur ; Hugh GARAVAN, Auteur ; Louise GALLAGHER, Auteur ; Jane MCGRATH, Auteur Article en page(s) : p.136-152 Langues : Anglais (eng) Mots-clés : autism spectrum disorders functional connectivity attention orienting attention network neuroimaging Index. décimale : PER Périodiques Résumé : Background Attention orienting is a cognitive process that facilitates the movement of attention focus from one location to another: this may be impaired in autism spectrum disorder (ASD). Dorsal and ventral attention networks (DAN and VAN) sub-serve the process of attention orienting. This study investigated the functional connectivity of attention orienting in these networks in ASD using the Posner Cueing Task. Method Twenty-one adolescents with ASD and 21 age and IQ matched controls underwent functional magnetic resonance imaging. A psychophysical interaction (PPI) analysis was implemented to investigate task-dependent functional connectivity, measuring synchronicity of brain regions during the task. Regions of interest (ROI) were selected to explore functional connectivity in the DAN during cue-only conditions and in the VAN during invalid and valid trials. Results Behaviourally, the ASD and control groups performed the task in a similar manner. Functional MRI results indicated that the ASD and control groups activated similar brain regions. During invalid trials (VAN), the ASD group showed significant positive functional connectivity to multiple brain regions, whilst the control group demonstrated negative connectivity. During valid trials (VAN), the two groups also showed contrasting patterns of connectivity. In the cue-only conditions (DAN), the ASD group showed weaker functional connectivity. Conclusion The DAN analysis suggests that the ASD group has weaker coherence between brain areas involved in goal-driven, endogenous attention control. The strong positive functional connectivity exhibited by the ASD group in the VAN during the invalid trials suggests that individuals with ASD may generate compensatory mechanisms to achieve neurotypical behaviour. These results support the theory of abnormal cortical connectivity in autism. En ligne : http://dx.doi.org/10.1002/aur.1430 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=256
in Autism Research > 8-2 (April 2015) . - p.136-152[article] Disrupted Functional Connectivity in Dorsal and Ventral Attention Networks During Attention Orienting in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Jacqueline FITZGERALD, Auteur ; Katherine JOHNSON, Auteur ; Elizabeth KEHOE, Auteur ; Arun L. W. BOKDE, Auteur ; Hugh GARAVAN, Auteur ; Louise GALLAGHER, Auteur ; Jane MCGRATH, Auteur . - p.136-152.
Langues : Anglais (eng)
in Autism Research > 8-2 (April 2015) . - p.136-152
Mots-clés : autism spectrum disorders functional connectivity attention orienting attention network neuroimaging Index. décimale : PER Périodiques Résumé : Background Attention orienting is a cognitive process that facilitates the movement of attention focus from one location to another: this may be impaired in autism spectrum disorder (ASD). Dorsal and ventral attention networks (DAN and VAN) sub-serve the process of attention orienting. This study investigated the functional connectivity of attention orienting in these networks in ASD using the Posner Cueing Task. Method Twenty-one adolescents with ASD and 21 age and IQ matched controls underwent functional magnetic resonance imaging. A psychophysical interaction (PPI) analysis was implemented to investigate task-dependent functional connectivity, measuring synchronicity of brain regions during the task. Regions of interest (ROI) were selected to explore functional connectivity in the DAN during cue-only conditions and in the VAN during invalid and valid trials. Results Behaviourally, the ASD and control groups performed the task in a similar manner. Functional MRI results indicated that the ASD and control groups activated similar brain regions. During invalid trials (VAN), the ASD group showed significant positive functional connectivity to multiple brain regions, whilst the control group demonstrated negative connectivity. During valid trials (VAN), the two groups also showed contrasting patterns of connectivity. In the cue-only conditions (DAN), the ASD group showed weaker functional connectivity. Conclusion The DAN analysis suggests that the ASD group has weaker coherence between brain areas involved in goal-driven, endogenous attention control. The strong positive functional connectivity exhibited by the ASD group in the VAN during the invalid trials suggests that individuals with ASD may generate compensatory mechanisms to achieve neurotypical behaviour. These results support the theory of abnormal cortical connectivity in autism. En ligne : http://dx.doi.org/10.1002/aur.1430 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=256
Titre : Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism Type de document : Texte imprimé et/ou numérique Auteurs : Katherine E. TANSEY, Auteur ; Matthew J. HILL, Auteur ; Lynne E. COCHRANE, Auteur ; Michael GILL, Auteur ; Richard ANNEY, Auteur ; Louise GALLAGHER, Auteur Année de publication : 2011 Article en page(s) : 8 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background
Arginine vasopressin (AVP) has been hypothesized to play a role in aetiology of autism based on a demonstrated involvement in the regulation of social behaviours. The arginine vasopressin receptor 1A gene (AVPR1A) is widely expressed in the brain and is considered to be a key receptor for regulation of social behaviour. Moreover, genetic variation at AVPR1A has been reported to be associated with autism. Evidence from non-human mammals implicates variation in the 5'-flanking region of AVPR1A in variable gene expression and social behaviour.
Methods
We examined four tagging single nucleotide polymorphisms (SNPs) (rs3803107, rs1042615, rs3741865, rs11174815) and three microsatellites (RS3, RS1 and AVR) at the AVPR1A gene for association in an autism cohort from Ireland. Two 5'-flanking region polymorphisms in the human AVPR1A, RS3 and RS1, were also tested for their effect on relative promoter activity.
Results
The short alleles of RS1 and the SNP rs11174815 show weak association with autism in the Irish population (P = 0.036 and P = 0.008, respectively). Both RS1 and RS3 showed differences in relative promoter activity by length. Shorter repeat alleles of RS1 and RS3 decreased relative promoter activity in the human neuroblastoma cell line SH-SY5Y.
Conclusions
These aligning results can be interpreted as a functional route for this association, namely that shorter alleles of RS1 lead to decreased AVPR1A transcription, which may proffer increased susceptibility to the autism phenotype.En ligne : http://dx.doi.org/10.1186/2040-2392-2-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=122
in Molecular Autism > (March 2011) . - 8 p.[article] Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism [Texte imprimé et/ou numérique] / Katherine E. TANSEY, Auteur ; Matthew J. HILL, Auteur ; Lynne E. COCHRANE, Auteur ; Michael GILL, Auteur ; Richard ANNEY, Auteur ; Louise GALLAGHER, Auteur . - 2011 . - 8 p.
Langues : Anglais (eng)
in Molecular Autism > (March 2011) . - 8 p.
Index. décimale : PER Périodiques Résumé : Background
Arginine vasopressin (AVP) has been hypothesized to play a role in aetiology of autism based on a demonstrated involvement in the regulation of social behaviours. The arginine vasopressin receptor 1A gene (AVPR1A) is widely expressed in the brain and is considered to be a key receptor for regulation of social behaviour. Moreover, genetic variation at AVPR1A has been reported to be associated with autism. Evidence from non-human mammals implicates variation in the 5'-flanking region of AVPR1A in variable gene expression and social behaviour.
Methods
We examined four tagging single nucleotide polymorphisms (SNPs) (rs3803107, rs1042615, rs3741865, rs11174815) and three microsatellites (RS3, RS1 and AVR) at the AVPR1A gene for association in an autism cohort from Ireland. Two 5'-flanking region polymorphisms in the human AVPR1A, RS3 and RS1, were also tested for their effect on relative promoter activity.
Results
The short alleles of RS1 and the SNP rs11174815 show weak association with autism in the Irish population (P = 0.036 and P = 0.008, respectively). Both RS1 and RS3 showed differences in relative promoter activity by length. Shorter repeat alleles of RS1 and RS3 decreased relative promoter activity in the human neuroblastoma cell line SH-SY5Y.
Conclusions
These aligning results can be interpreted as a functional route for this association, namely that shorter alleles of RS1 lead to decreased AVPR1A transcription, which may proffer increased susceptibility to the autism phenotype.En ligne : http://dx.doi.org/10.1186/2040-2392-2-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=122
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