Dépouillements

Molecular Autism: accelerating and integrating research into neurodevelopmental conditions / Joseph D. BUXBAUM in Molecular Autism, (February 2010)  

Public ISBD [article]  inMolecular Autism > (February 2010) . - 2 p. Titre : Molecular Autism: accelerating and integrating research into neurodevelopmental conditions Type de document : Texte imprimé et/ou numérique Auteurs : Joseph D. BUXBAUM, Auteur ; Simon BARON-COHEN, Auteur Année de publication : 2010 Article en page(s) : 2 p. Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1186/2040-2392-1-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=102 [article] Molecular Autism: accelerating and integrating research into neurodevelopmental conditions [Texte imprimé et/ou numérique] / Joseph D. BUXBAUM, Auteur ; Simon BARON-COHEN, Auteur . - 2010 . - 2 p. Langues : Anglais (eng) in Molecular Autism > (February 2010) . - 2 p. Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1186/2040-2392-1-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=102

Paternal age increases the risk for autism in an Iranian population sample / Roksana SASANFAR in Molecular Autism, (February 2010)  

Public ISBD [article]  inMolecular Autism > (February 2010) . - 10 p. Titre : Paternal age increases the risk for autism in an Iranian population sample Type de document : Texte imprimé et/ou numérique Auteurs : Roksana SASANFAR, Auteur ; Stephen A. HADDAD, Auteur ; Ala TOLOUEI, Auteur ; Majid GHADAMI, Auteur ; Dongmei YU, Auteur ; Susan L. SANTANGELO, Auteur Année de publication : 2010 Article en page(s) : 10 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background Autism is a neurodevelopmental disorder which is known to have a strong genetic component and is most likely oligogenic. However, the necessary role of environmental factors has been well documented. Prior research suggests that parental characteristics, such as age and level of education, may be associated with a risk of autism. Parental age has been shown to be associated with many disorders, such as schizophrenia, childhood cancer and fetal death. However, results from studies of parental age and autism are inconsistent. Methods In the present study, we investigated the association of autism with parental age in 179 autism cases and 1611 matched cohort children from Iran. Each case was matched with nine cohort controls on parental education, sex, order of birth, consanguineous marriage, urbanism and province of residence. The Cox regression model was used to carry out conditional logistic regression on the matched data. Results There was a significant association between higher paternal age, but not maternal age, and an increasing risk of autism. An analysis of the combined effect of parental age and education also revealed that parents with higher education had an increased risk of having autistic children, with a dose-response effect of parental age. Conclusions This study, which is the first epidemiological study of autism in Iran, provides evidence of the association of paternal age and risk of autism. En ligne : http://dx.doi.org/10.1186/2040-2392-1-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=102 [article] Paternal age increases the risk for autism in an Iranian population sample [Texte imprimé et/ou numérique] / Roksana SASANFAR, Auteur ; Stephen A. HADDAD, Auteur ; Ala TOLOUEI, Auteur ; Majid GHADAMI, Auteur ; Dongmei YU, Auteur ; Susan L. SANTANGELO, Auteur . - 2010 . - 10 p. Langues : Anglais (eng) in Molecular Autism > (February 2010) . - 10 p. Index. décimale : PER Périodiques Résumé : Background Autism is a neurodevelopmental disorder which is known to have a strong genetic component and is most likely oligogenic. However, the necessary role of environmental factors has been well documented. Prior research suggests that parental characteristics, such as age and level of education, may be associated with a risk of autism. Parental age has been shown to be associated with many disorders, such as schizophrenia, childhood cancer and fetal death. However, results from studies of parental age and autism are inconsistent. Methods In the present study, we investigated the association of autism with parental age in 179 autism cases and 1611 matched cohort children from Iran. Each case was matched with nine cohort controls on parental education, sex, order of birth, consanguineous marriage, urbanism and province of residence. The Cox regression model was used to carry out conditional logistic regression on the matched data. Results There was a significant association between higher paternal age, but not maternal age, and an increasing risk of autism. An analysis of the combined effect of parental age and education also revealed that parents with higher education had an increased risk of having autistic children, with a dose-response effect of parental age. Conclusions This study, which is the first epidemiological study of autism in Iran, provides evidence of the association of paternal age and risk of autism. En ligne : http://dx.doi.org/10.1186/2040-2392-1-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=102

Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disorders / Dale CANNON in Molecular Autism, (February 2010)  

Public ISBD [article]  inMolecular Autism > (February 2010) . - 13 p. Titre : Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Dale CANNON, Auteur ; William M. MCMAHON, Auteur ; Hilary H. COON, Auteur ; Kristina ALLEN-BRADY, Auteur ; Reid ROBISON, Auteur ; Judith S. MILLER, Auteur ; Michele E. VILLALOBOS, Auteur ; Natalie K. WAHMHOFF, Auteur Année de publication : 2010 Article en page(s) : 13 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background It has been suggested that efforts to identify genetic risk markers of autism spectrum disorder (ASD) would benefit from the analysis of more narrowly defined ASD phenotypes. Previous research indicates that 'insistence on sameness' (IS) and 'repetitive sensory-motor actions' (RSMA) are two factors within the ASD 'repetitive and stereotyped behavior' domain. The primary aim of this study was to identify genetic risk markers of both factors to allow comparison of those markers with one another and with markers found in the same set of pedigrees using ASD diagnosis as the phenotype. Thus, we empirically addresses the possibilities that more narrowly defined phenotypes improve linkage analysis signals and that different narrowly defined phenotypes are associated with different loci. Secondary aims were to examine the correlates of IS and RSMA and to assess the heritability of both scales. Methods A genome-wide linkage analysis was conducted with a sample of 70 multiplex ASD pedigrees using IS and RSMA as phenotypes. Genotyping services were provided by the Center for Inherited Disease Research using the 6 K single nucleotide polymorphism linkage panel. Analysis was done using the multipoint linkage software program MCLINK, a Markov chain Monte Carlo (MCMC) method that allows for multilocus linkage analysis on large extended pedigrees. Results Genome-wide significance was observed for IS at 2q37.1-q37.3 (dominant model heterogeneity lod score (hlod) 3.42) and for RSMA at 15q13.1-q14 (recessive model hlod 3.93). We found some linkage signals that overlapped and others that were not observed in our previous linkage analysis of the ASD phenotype in the same pedigrees, and regions varied in the range of phenotypes with which they were linked. A new finding with respect to IS was that it is positively associated with IQ if the IS-RSMA correlation is statistically controlled. Conclusions The finding that IS and RSMA are linked to different regions that only partially overlap regions previously identified with ASD as the phenotype supports the value of including multiple, narrowly defined phenotypes in ASD genetic research. Further, we replicated previous reports indicating that RSMA is more strongly associated than IS with measures of ASD severity. En ligne : http://dx.doi.org/10.1186/2040-2392-1-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=102 [article] Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disorders [Texte imprimé et/ou numérique] / Dale CANNON, Auteur ; William M. MCMAHON, Auteur ; Hilary H. COON, Auteur ; Kristina ALLEN-BRADY, Auteur ; Reid ROBISON, Auteur ; Judith S. MILLER, Auteur ; Michele E. VILLALOBOS, Auteur ; Natalie K. WAHMHOFF, Auteur . - 2010 . - 13 p. Langues : Anglais (eng) in Molecular Autism > (February 2010) . - 13 p. Index. décimale : PER Périodiques Résumé : Background It has been suggested that efforts to identify genetic risk markers of autism spectrum disorder (ASD) would benefit from the analysis of more narrowly defined ASD phenotypes. Previous research indicates that 'insistence on sameness' (IS) and 'repetitive sensory-motor actions' (RSMA) are two factors within the ASD 'repetitive and stereotyped behavior' domain. The primary aim of this study was to identify genetic risk markers of both factors to allow comparison of those markers with one another and with markers found in the same set of pedigrees using ASD diagnosis as the phenotype. Thus, we empirically addresses the possibilities that more narrowly defined phenotypes improve linkage analysis signals and that different narrowly defined phenotypes are associated with different loci. Secondary aims were to examine the correlates of IS and RSMA and to assess the heritability of both scales. Methods A genome-wide linkage analysis was conducted with a sample of 70 multiplex ASD pedigrees using IS and RSMA as phenotypes. Genotyping services were provided by the Center for Inherited Disease Research using the 6 K single nucleotide polymorphism linkage panel. Analysis was done using the multipoint linkage software program MCLINK, a Markov chain Monte Carlo (MCMC) method that allows for multilocus linkage analysis on large extended pedigrees. Results Genome-wide significance was observed for IS at 2q37.1-q37.3 (dominant model heterogeneity lod score (hlod) 3.42) and for RSMA at 15q13.1-q14 (recessive model hlod 3.93). We found some linkage signals that overlapped and others that were not observed in our previous linkage analysis of the ASD phenotype in the same pedigrees, and regions varied in the range of phenotypes with which they were linked. A new finding with respect to IS was that it is positively associated with IQ if the IS-RSMA correlation is statistically controlled. Conclusions The finding that IS and RSMA are linked to different regions that only partially overlap regions previously identified with ASD as the phenotype supports the value of including multiple, narrowly defined phenotypes in ASD genetic research. Further, we replicated previous reports indicating that RSMA is more strongly associated than IS with measures of ASD severity. En ligne : http://dx.doi.org/10.1186/2040-2392-1-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=102

Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk / Jerome CARAYOL in Molecular Autism, (February 2010)  

Public ISBD [article]  inMolecular Autism > (February 2010) . - 11 p. Titre : Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk Type de document : Texte imprimé et/ou numérique Auteurs : Jerome CARAYOL, Auteur ; Geraldine DAWSON, Auteur ; Gerard SCHELLENBERG, Auteur ; Frederic TORES, Auteur ; Jörg HAGER, Auteur ; Andreas ZIEGLER, Auteur Année de publication : 2010 Article en page(s) : 11 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background Autism is a complex disorder characterized by deficits involving communication, social interaction, and repetitive and restrictive patterns of behavior. Twin studies have shown that autism is strongly heritable, suggesting a strong genetic component. In other disease states with a complex etiology, such as type 2 diabetes, cancer and cardiovascular disease, combined analysis of multiple genetic variants in a genetic score has helped to identify individuals at high risk of disease. Genetic scores are designed to test for association of genetic markers with disease. Method The accumulation of multiple risk alleles markedly increases the risk of being affected, and compared with studying polymorphisms individually, it improves the identification of subgroups of individuals at greater risk. In the present study, we show that this approach can be applied to autism by specifically looking at a high-risk population of children who have siblings with autism. A two-sample study design and the generation of a genetic score using multiple independent genes were used to assess the risk of autism in a high-risk population. Results In both samples, odds ratios (ORs) increased significantly as a function of the number of risk alleles, with a genetic score of 8 being associated with an OR of 5.54 (95% confidence interval [CI] 2.45 to 12.49). The sensitivities and specificities for each genetic score were similar in both analyses, and the resultant area under the receiver operating characteristic curves were identical (0.59). Conclusions These results suggest that the accumulation of multiple risk alleles in a genetic score is a useful strategy for assessing the risk of autism in siblings of affected individuals, and may be better than studying single polymorphisms for identifying subgroups of individuals with significantly greater risk. En ligne : http://dx.doi.org/10.1186/2040-2392-1-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=102 [article] Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk [Texte imprimé et/ou numérique] / Jerome CARAYOL, Auteur ; Geraldine DAWSON, Auteur ; Gerard SCHELLENBERG, Auteur ; Frederic TORES, Auteur ; Jörg HAGER, Auteur ; Andreas ZIEGLER, Auteur . - 2010 . - 11 p. Langues : Anglais (eng) in Molecular Autism > (February 2010) . - 11 p. Index. décimale : PER Périodiques Résumé : Background Autism is a complex disorder characterized by deficits involving communication, social interaction, and repetitive and restrictive patterns of behavior. Twin studies have shown that autism is strongly heritable, suggesting a strong genetic component. In other disease states with a complex etiology, such as type 2 diabetes, cancer and cardiovascular disease, combined analysis of multiple genetic variants in a genetic score has helped to identify individuals at high risk of disease. Genetic scores are designed to test for association of genetic markers with disease. Method The accumulation of multiple risk alleles markedly increases the risk of being affected, and compared with studying polymorphisms individually, it improves the identification of subgroups of individuals at greater risk. In the present study, we show that this approach can be applied to autism by specifically looking at a high-risk population of children who have siblings with autism. A two-sample study design and the generation of a genetic score using multiple independent genes were used to assess the risk of autism in a high-risk population. Results In both samples, odds ratios (ORs) increased significantly as a function of the number of risk alleles, with a genetic score of 8 being associated with an OR of 5.54 (95% confidence interval [CI] 2.45 to 12.49). The sensitivities and specificities for each genetic score were similar in both analyses, and the resultant area under the receiver operating characteristic curves were identical (0.59). Conclusions These results suggest that the accumulation of multiple risk alleles in a genetic score is a useful strategy for assessing the risk of autism in siblings of affected individuals, and may be better than studying single polymorphisms for identifying subgroups of individuals with significantly greater risk. En ligne : http://dx.doi.org/10.1186/2040-2392-1-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=102