Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
3 recherche sur le mot-clé 'Autism Spectrum Disorder/etiology/genetics'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder / C. L. YIN in Molecular Autism, 7 (2016)
[article]
Titre : Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : C. L. YIN, Auteur ; H. I. CHEN, Auteur ; L. H. LI, Auteur ; Yi-Ling CHIEN, Auteur ; H. M. LIAO, Auteur ; Miao-Churn CHOU, Auteur ; W. J. CHOU, Auteur ; W. C. TSAI, Auteur ; Yen-Nan CHIU, Auteur ; Y. Y. WU, Auteur ; C. Z. LO, Auteur ; J. Y. WU, Auteur ; Y. T. CHEN, Auteur ; S. S. GAU, Auteur Article en page(s) : 23p. Langues : Anglais (eng) Mots-clés : Adolescent Asian Continental Ancestry Group/genetics Autism Spectrum Disorder/etiology/genetics Child China Cohort Studies DNA Copy Number Variations Down-Regulation Exons Female Genome-Wide Association Study Genotype Humans Male Odds Ratio Pedigree Phenotype Polymorphism, Single Nucleotide Ubiquitin-Protein Ligases/genetics Autism spectrum disorder (ASD) Copy number variations (CNVs) Family study Gene expression Park2 Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder with complex genetic underpinning in its etiology. Copy number variations (CNVs) as one of the genetic factors associated with ASD have been addressed in recent genome-wide association studies (GWAS). However, the significance of CNV has not been well investigated in non-Caucasian ASD population. METHODS: To identify the pathogenic CNVs responsible for ASD in Han Chinese, we performed a segment-based GWAS of CNV in 335 ASD cases and 1093 healthy controls using Affymetrix single nucleotide polymorphism (SNP) array by focusing on case-specific CNVs. PARK2 was one of the important genes with several case-specific regions overlapped on it. The findings were validated in the initial screen sample set and replicated in another sample set by real-time quantitative PCR (qPCR). RESULTS: A total of six CNVs at 6q26 that spanned different exons of PARK2 were identified. The PARK2 expression level was down-regulated at exon-dependent manner in cases with either deletion or duplication. The result revealed that the gene function might be disrupted by exonic deletion and duplication. We also observed that the ASD case with exonic duplication demonstrated a more severe interference of PARK2 expression and the clinical feature than the ones with deletion at the exons 2-4 of the PARK2 gene. CONCLUSIONS: Our finding provides evidence to support that CNVs affecting PARK2 function might contribute to genetic etiology of a proportion of cases with ASD. The intriguing results of this work warrant further study on characterizing the functional impact of various exonic CNVs on the PARK2 gene. TRIAL REGISTRATION: ClinicalTrials.gov NCT00494754. En ligne : http://dx.doi.org/10.1186/s13229-016-0087-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329
in Molecular Autism > 7 (2016) . - 23p.[article] Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder [Texte imprimé et/ou numérique] / C. L. YIN, Auteur ; H. I. CHEN, Auteur ; L. H. LI, Auteur ; Yi-Ling CHIEN, Auteur ; H. M. LIAO, Auteur ; Miao-Churn CHOU, Auteur ; W. J. CHOU, Auteur ; W. C. TSAI, Auteur ; Yen-Nan CHIU, Auteur ; Y. Y. WU, Auteur ; C. Z. LO, Auteur ; J. Y. WU, Auteur ; Y. T. CHEN, Auteur ; S. S. GAU, Auteur . - 23p.
Langues : Anglais (eng)
in Molecular Autism > 7 (2016) . - 23p.
Mots-clés : Adolescent Asian Continental Ancestry Group/genetics Autism Spectrum Disorder/etiology/genetics Child China Cohort Studies DNA Copy Number Variations Down-Regulation Exons Female Genome-Wide Association Study Genotype Humans Male Odds Ratio Pedigree Phenotype Polymorphism, Single Nucleotide Ubiquitin-Protein Ligases/genetics Autism spectrum disorder (ASD) Copy number variations (CNVs) Family study Gene expression Park2 Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder with complex genetic underpinning in its etiology. Copy number variations (CNVs) as one of the genetic factors associated with ASD have been addressed in recent genome-wide association studies (GWAS). However, the significance of CNV has not been well investigated in non-Caucasian ASD population. METHODS: To identify the pathogenic CNVs responsible for ASD in Han Chinese, we performed a segment-based GWAS of CNV in 335 ASD cases and 1093 healthy controls using Affymetrix single nucleotide polymorphism (SNP) array by focusing on case-specific CNVs. PARK2 was one of the important genes with several case-specific regions overlapped on it. The findings were validated in the initial screen sample set and replicated in another sample set by real-time quantitative PCR (qPCR). RESULTS: A total of six CNVs at 6q26 that spanned different exons of PARK2 were identified. The PARK2 expression level was down-regulated at exon-dependent manner in cases with either deletion or duplication. The result revealed that the gene function might be disrupted by exonic deletion and duplication. We also observed that the ASD case with exonic duplication demonstrated a more severe interference of PARK2 expression and the clinical feature than the ones with deletion at the exons 2-4 of the PARK2 gene. CONCLUSIONS: Our finding provides evidence to support that CNVs affecting PARK2 function might contribute to genetic etiology of a proportion of cases with ASD. The intriguing results of this work warrant further study on characterizing the functional impact of various exonic CNVs on the PARK2 gene. TRIAL REGISTRATION: ClinicalTrials.gov NCT00494754. En ligne : http://dx.doi.org/10.1186/s13229-016-0087-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 Autism spectrum disorder and obstetric optimality: a twin study and meta-analysis of sibling studies / S. GÓMEZ-VALLEJO in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)
[article]
Titre : Autism spectrum disorder and obstetric optimality: a twin study and meta-analysis of sibling studies Type de document : Texte imprimé et/ou numérique Auteurs : S. GÓMEZ-VALLEJO, Auteur ; M. LEONI, Auteur ; A. RONALD, Auteur ; E. COLVERT, Auteur ; Francesca HAPPE, Auteur ; Patrick BOLTON, Auteur Article en page(s) : p.1353-1362 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/etiology/genetics Autistic Disorder Child Diseases in Twins Female Humans Infant, Newborn Pregnancy Siblings Twins Autism spectrum disorder genetics obstetric complications Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with a strong genetic basis. Recent studies have suggested that its aetiology is also influenced by environmental factors. Some of the most examined environmental factors are obstetric complications. However, the results are inconsistent. METHODS: We aimed to explore the association between obstetric complications and autism in a population-based twin sample using the Obstetric Enquiry Scale (OES), a scale that measures the presence or absence of pre-, peri- and neonatal factors. Additionally, we report the meta-analytic results for obstetrical factors reported in previously published sibling studies. RESULTS: Our study included 115 cases pairs and 62 controls pairs and showed that children with autism and their unaffected co-twins present significantly more obstetric complications than controls (ASD vs. controls ? 1.26, CI 95% 1.11-1.40 p < .001; unaffected co-twin vs. controls ? 1.20, 95% CI 1.07-1.36 p < .003). However, we did not find statistically significant differences between children with ASD and their unaffected co-twins (? .96, 95% CI 0.85-1.09, p 0.55). Meta-analysis demonstrated that maternal hypertension (RR 1.35, CI 95% 1.23-1.48), uterine bleeding (RR 1.20 CI 95% 1.01-1.42) and exposure to antibiotic during pregnancy (1.11 CI 95% 1.00-1.22) increase risk of ASD. CONCLUSIONS: This study confirms that children with ASD and their unaffected twins show more obstetric complications than controls. However, these complications do not distinguish between ASD twins and their unaffected co-twins. In addition, the meta-analysis showed little influence of birth factors on ASD which suggests a shared familial liability for both obstetric complications and autism, rather than a causal association. En ligne : http://dx.doi.org/10.1111/jcpp.13526 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1353-1362[article] Autism spectrum disorder and obstetric optimality: a twin study and meta-analysis of sibling studies [Texte imprimé et/ou numérique] / S. GÓMEZ-VALLEJO, Auteur ; M. LEONI, Auteur ; A. RONALD, Auteur ; E. COLVERT, Auteur ; Francesca HAPPE, Auteur ; Patrick BOLTON, Auteur . - p.1353-1362.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1353-1362
Mots-clés : Autism Spectrum Disorder/etiology/genetics Autistic Disorder Child Diseases in Twins Female Humans Infant, Newborn Pregnancy Siblings Twins Autism spectrum disorder genetics obstetric complications Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with a strong genetic basis. Recent studies have suggested that its aetiology is also influenced by environmental factors. Some of the most examined environmental factors are obstetric complications. However, the results are inconsistent. METHODS: We aimed to explore the association between obstetric complications and autism in a population-based twin sample using the Obstetric Enquiry Scale (OES), a scale that measures the presence or absence of pre-, peri- and neonatal factors. Additionally, we report the meta-analytic results for obstetrical factors reported in previously published sibling studies. RESULTS: Our study included 115 cases pairs and 62 controls pairs and showed that children with autism and their unaffected co-twins present significantly more obstetric complications than controls (ASD vs. controls ? 1.26, CI 95% 1.11-1.40 p < .001; unaffected co-twin vs. controls ? 1.20, 95% CI 1.07-1.36 p < .003). However, we did not find statistically significant differences between children with ASD and their unaffected co-twins (? .96, 95% CI 0.85-1.09, p 0.55). Meta-analysis demonstrated that maternal hypertension (RR 1.35, CI 95% 1.23-1.48), uterine bleeding (RR 1.20 CI 95% 1.01-1.42) and exposure to antibiotic during pregnancy (1.11 CI 95% 1.00-1.22) increase risk of ASD. CONCLUSIONS: This study confirms that children with ASD and their unaffected twins show more obstetric complications than controls. However, these complications do not distinguish between ASD twins and their unaffected co-twins. In addition, the meta-analysis showed little influence of birth factors on ASD which suggests a shared familial liability for both obstetric complications and autism, rather than a causal association. En ligne : http://dx.doi.org/10.1111/jcpp.13526 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 Shared familial risk factors between autism spectrum disorder and obesity - a register-based familial coaggregation cohort study / Richard AHLBERG in Journal of Child Psychology and Psychiatry, 63-8 (August 2022)
[article]
Titre : Shared familial risk factors between autism spectrum disorder and obesity - a register-based familial coaggregation cohort study Type de document : Texte imprimé et/ou numérique Auteurs : Richard AHLBERG, Auteur ; Miguel GARCIA-ARGIBAY, Auteur ; Tatja HIRVIKOSKI, Auteur ; Marcus BOMAN, Auteur ; Qi CHEN, Auteur ; Mark J. TAYLOR, Auteur ; Emma FRANS, Auteur ; Sven BÖLTE, Auteur ; Henrik LARSSON, Auteur Article en page(s) : p.890-899 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/etiology/genetics Cohort Studies Female Genetic Predisposition to Disease Humans Intellectual Disability/complications Male Obesity/epidemiology/genetics Registries Risk Factors Sweden/epidemiology Autism family factors obesity Index. décimale : PER Périodiques Résumé : BACKGROUND: Meta-analyses suggest an association between autism spectrum disorder (ASD) and obesity, but the factors underlying this association remain unclear. This study investigated the association between ASD and obesity stratified on intellectual disability (ID). In addition, in order to gain insight into possible shared etiological factors, the potential role of shared familial liability was examined. METHOD: We studied a cohort of 3,141,696 individuals by linking several Swedish nationwide registers. We identified 35,461 individuals with ASD and 61,784 individuals with obesity. Logistic regression models were used to estimate the association between ASD and obesity separately by ID and sex and by adjusting for parental education, psychiatric comorbidity, and psychotropic medication. Potential shared familial etiologic factors were examined by comparing the risk of obesity in full siblings, maternal and paternal half-siblings, and full- and half-cousins of individuals with ASD to the risk of obesity in relatives of individuals without ASD. RESULTS: Individuals with ASD+ID (OR=3.76 [95% CI, 3.38-4.19]) and ASD-ID (OR=3.40 [95% CI, 3.23-3.58]) had an increased risk for obesity compared with individuals without ASD. The associations remained statistically significant when adjusting for parental education, psychiatric comorbidity, and medication. Sex-stratified analyses indicated a higher relative risk for males compared with females, with statistically significant interaction effects for ASD-ID, but not for ASD+ID in the fully adjusted model. First-degree relatives of individuals with ASD+ID and ASD-ID had an increased risk of obesity compared with first-degree relatives of individuals without ASD. The obesity risk was similar in second-degree relatives of individuals with ASD+ID but was lower for and ASD-ID. Full cousins of individuals with ASD+ID had a higher risk compared with half-cousins of individuals with ASD+ID). A similar difference in the obesity risk between full cousins and half-cousins was observed for ASD-ID. CONCLUSIONS: Individuals with ASD and their relatives are at increased risk for obesity. The risk might be somewhat higher for males than females. This warrants further studies examining potential common pleiotropic genetic factors and shared family-wide environmental factors for ASD and obesity. Such research might aid in identifying specific risks and underlying mechanisms in common between ASD and obesity. En ligne : http://dx.doi.org/10.1111/jcpp.13538 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486
in Journal of Child Psychology and Psychiatry > 63-8 (August 2022) . - p.890-899[article] Shared familial risk factors between autism spectrum disorder and obesity - a register-based familial coaggregation cohort study [Texte imprimé et/ou numérique] / Richard AHLBERG, Auteur ; Miguel GARCIA-ARGIBAY, Auteur ; Tatja HIRVIKOSKI, Auteur ; Marcus BOMAN, Auteur ; Qi CHEN, Auteur ; Mark J. TAYLOR, Auteur ; Emma FRANS, Auteur ; Sven BÖLTE, Auteur ; Henrik LARSSON, Auteur . - p.890-899.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 63-8 (August 2022) . - p.890-899
Mots-clés : Autism Spectrum Disorder/etiology/genetics Cohort Studies Female Genetic Predisposition to Disease Humans Intellectual Disability/complications Male Obesity/epidemiology/genetics Registries Risk Factors Sweden/epidemiology Autism family factors obesity Index. décimale : PER Périodiques Résumé : BACKGROUND: Meta-analyses suggest an association between autism spectrum disorder (ASD) and obesity, but the factors underlying this association remain unclear. This study investigated the association between ASD and obesity stratified on intellectual disability (ID). In addition, in order to gain insight into possible shared etiological factors, the potential role of shared familial liability was examined. METHOD: We studied a cohort of 3,141,696 individuals by linking several Swedish nationwide registers. We identified 35,461 individuals with ASD and 61,784 individuals with obesity. Logistic regression models were used to estimate the association between ASD and obesity separately by ID and sex and by adjusting for parental education, psychiatric comorbidity, and psychotropic medication. Potential shared familial etiologic factors were examined by comparing the risk of obesity in full siblings, maternal and paternal half-siblings, and full- and half-cousins of individuals with ASD to the risk of obesity in relatives of individuals without ASD. RESULTS: Individuals with ASD+ID (OR=3.76 [95% CI, 3.38-4.19]) and ASD-ID (OR=3.40 [95% CI, 3.23-3.58]) had an increased risk for obesity compared with individuals without ASD. The associations remained statistically significant when adjusting for parental education, psychiatric comorbidity, and medication. Sex-stratified analyses indicated a higher relative risk for males compared with females, with statistically significant interaction effects for ASD-ID, but not for ASD+ID in the fully adjusted model. First-degree relatives of individuals with ASD+ID and ASD-ID had an increased risk of obesity compared with first-degree relatives of individuals without ASD. The obesity risk was similar in second-degree relatives of individuals with ASD+ID but was lower for and ASD-ID. Full cousins of individuals with ASD+ID had a higher risk compared with half-cousins of individuals with ASD+ID). A similar difference in the obesity risk between full cousins and half-cousins was observed for ASD-ID. CONCLUSIONS: Individuals with ASD and their relatives are at increased risk for obesity. The risk might be somewhat higher for males than females. This warrants further studies examining potential common pleiotropic genetic factors and shared family-wide environmental factors for ASD and obesity. Such research might aid in identifying specific risks and underlying mechanisms in common between ASD and obesity. En ligne : http://dx.doi.org/10.1111/jcpp.13538 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486