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Auteur Jakob GROVE
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Documents disponibles écrits par cet auteur (4)
Faire une suggestion Affiner la rechercheAmniotic Fluid MMP-9 and Neurotrophins in Autism Spectrum Disorders: An Exploratory Study / Morsi W. ABDALLAH in Autism Research, 5-6 (December 2012)
Titre : Evaluating the interrelations between the autism polygenic score and psychiatric family history in risk for autism Type de document : texte imprimé Auteurs : Diana SCHENDEL, Auteur ; Thomas MUNK LAURSEN, Auteur ; Clara ALBIÑANA, Auteur ; Bjarni VILHJALMSSON, Auteur ; Christine LADD-ACOSTA, Auteur ; M. Daniele FALLIN, Auteur ; Kelly S. BENKE, Auteur ; Brian K. LEE, Auteur ; Jakob GROVE, Auteur ; Amy E. KALKBRENNER, Auteur ; Linda EJLSKOV, Auteur ; David HOUGAARD, Auteur ; Jonas BYBJERG-GRAUHOLM, Auteur ; Marie BAEKVAD-HANSEN, Auteur ; Anders D. BØRGLUM, Auteur ; Thomas WERGE, Auteur ; Merete NORDENTOFT, Auteur ; Preben Bo MORTENSEN, Auteur ; Esben AGERBO, Auteur Article en page(s) : p.171-182 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics Autistic Disorder/genetics Case-Control Studies Humans Multifactorial Inheritance/genetics Risk Factors Siblings autism spectrum disorder case-control studies family history genetic risk factors polygenic risk score Index. décimale : PER Périodiques Résumé : Psychiatric family history or a high autism polygenic risk score (PRS) have been separately linked to autism spectrum disorder (ASD) risk. The study aimed to simultaneously consider psychiatric family history and individual autism genetic liability (PRS) in autism risk. We performed a case-control study of all Denmark singleton births, May 1981-December 2005, in Denmark at their first birthday and a known mother. Cases were diagnosed with ASD before 2013 and controls comprised a random sample of 30,000 births without ASD, excluding persons with non-Denmark-born parents, missing ASD PRS, non-European ancestry. Adjusted odds ratios (aOR) were estimated for ASD by PRS decile and by psychiatric history in parents or full siblings (8 mutually-exclusive categories) using logistic regression. Adjusted ASD PRS z-score least-squares means were estimated by psychiatric family history category. ASD risk (11,339 ASD cases; 20,175 controls) from ASD PRS was not substantially altered after accounting for psychiatric family history (e.g., ASD PRS 10th decile aOR: 2.35 (95% CI 2.11-2.63) before vs 2.11 (95% CI 1.91-2.40) after adjustment) nor from psychiatric family history after accounting for ASD PRS (e.g., ASD family history aOR: 6.73 (95% CI 5.89-7.68) before vs 6.32 (95% CI 5.53-7.22) after adjustment). ASD risk from ASD PRS varied slightly by psychiatric family history. While ASD risk from psychiatric family history was not accounted for by ASD PRS and vice versa, risk overlap between the two factors will likely increase as measures of genetic risk improve. The two factors are best viewed as complementary measures of family-based autism risk. LAY SUMMARY: Autism risk from a history of mental disorders in the immediate family was not explained by a measure of individual genetic risk (autism polygenic risk score) and vice versa. That is, genetic risk did not appear to overlap family history risk. As genetic measures for autism improve then the overlap in autism risk from family history versus genetic factors will likely increase, but further study may be needed to fully determine the components of risk and how they are inter-related between these key family factors. Meanwhile, the two factors may be best viewed as complementary measures of autism family-based risk. En ligne : http://dx.doi.org/10.1002/aur.2629 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450
in Autism Research > 15-1 (January 2022) . - p.171-182[article] Evaluating the interrelations between the autism polygenic score and psychiatric family history in risk for autism [texte imprimé] / Diana SCHENDEL, Auteur ; Thomas MUNK LAURSEN, Auteur ; Clara ALBIÑANA, Auteur ; Bjarni VILHJALMSSON, Auteur ; Christine LADD-ACOSTA, Auteur ; M. Daniele FALLIN, Auteur ; Kelly S. BENKE, Auteur ; Brian K. LEE, Auteur ; Jakob GROVE, Auteur ; Amy E. KALKBRENNER, Auteur ; Linda EJLSKOV, Auteur ; David HOUGAARD, Auteur ; Jonas BYBJERG-GRAUHOLM, Auteur ; Marie BAEKVAD-HANSEN, Auteur ; Anders D. BØRGLUM, Auteur ; Thomas WERGE, Auteur ; Merete NORDENTOFT, Auteur ; Preben Bo MORTENSEN, Auteur ; Esben AGERBO, Auteur . - p.171-182.
Langues : Anglais (eng)
in Autism Research > 15-1 (January 2022) . - p.171-182
Mots-clés : Autism Spectrum Disorder/genetics Autistic Disorder/genetics Case-Control Studies Humans Multifactorial Inheritance/genetics Risk Factors Siblings autism spectrum disorder case-control studies family history genetic risk factors polygenic risk score Index. décimale : PER Périodiques Résumé : Psychiatric family history or a high autism polygenic risk score (PRS) have been separately linked to autism spectrum disorder (ASD) risk. The study aimed to simultaneously consider psychiatric family history and individual autism genetic liability (PRS) in autism risk. We performed a case-control study of all Denmark singleton births, May 1981-December 2005, in Denmark at their first birthday and a known mother. Cases were diagnosed with ASD before 2013 and controls comprised a random sample of 30,000 births without ASD, excluding persons with non-Denmark-born parents, missing ASD PRS, non-European ancestry. Adjusted odds ratios (aOR) were estimated for ASD by PRS decile and by psychiatric history in parents or full siblings (8 mutually-exclusive categories) using logistic regression. Adjusted ASD PRS z-score least-squares means were estimated by psychiatric family history category. ASD risk (11,339 ASD cases; 20,175 controls) from ASD PRS was not substantially altered after accounting for psychiatric family history (e.g., ASD PRS 10th decile aOR: 2.35 (95% CI 2.11-2.63) before vs 2.11 (95% CI 1.91-2.40) after adjustment) nor from psychiatric family history after accounting for ASD PRS (e.g., ASD family history aOR: 6.73 (95% CI 5.89-7.68) before vs 6.32 (95% CI 5.53-7.22) after adjustment). ASD risk from ASD PRS varied slightly by psychiatric family history. While ASD risk from psychiatric family history was not accounted for by ASD PRS and vice versa, risk overlap between the two factors will likely increase as measures of genetic risk improve. The two factors are best viewed as complementary measures of family-based autism risk. LAY SUMMARY: Autism risk from a history of mental disorders in the immediate family was not explained by a measure of individual genetic risk (autism polygenic risk score) and vice versa. That is, genetic risk did not appear to overlap family history risk. As genetic measures for autism improve then the overlap in autism risk from family history versus genetic factors will likely increase, but further study may be needed to fully determine the components of risk and how they are inter-related between these key family factors. Meanwhile, the two factors may be best viewed as complementary measures of autism family-based risk. En ligne : http://dx.doi.org/10.1002/aur.2629 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450
Titre : Phenotypic and ancestry-related assortative mating in autism Type de document : texte imprimé Auteurs : Jing ZHANG, Auteur ; J. Dylan WEISSENKAMPEN, Auteur ; Rachel KEMBER, Auteur ; iPSYCH CONSORTIUM, Auteur ; Jakob GROVE, Auteur ; Anders D. BØRGLUM, Auteur ; Elise B. ROBINSON, Auteur ; Edward S. BRODKIN, Auteur ; Laura ALMASY, Auteur ; Maja BUÄŒAN, Auteur ; Ronnie SEBRO, Auteur Article en page(s) : 27p. Langues : Anglais (eng) Mots-clés : Humans Autistic Disorder/genetics Phenotype Male Female Linkage Disequilibrium Multifactorial Inheritance Child Genetic Predisposition to Disease Polymorphism, Single Nucleotide Adult Intellectual Disability/genetics Assortative mating Autism Genetic ancestry Intellectual disability Linkage disequilibrium Polygenic scores Index. décimale : PER Périodiques Résumé : BACKGROUND: Positive assortative mating (AM) in several neuropsychiatric traits, including autism, has been noted. However, it is unknown whether the pattern of AM is different in phenotypically defined autism subgroups [e.g., autism with and without intellectually disability (ID)]. It is also unclear what proportion of the phenotypic AM can be explained by the genetic similarity between parents of children with an autism diagnosis, and the consequences of AM on the genetic structure of the population. METHODS: To address these questions, we analyzed two family-based autism collections: the Simons Foundation Powering Autism Research for Knowledge (SPARK) (1575 families) and the Simons Simplex Collection (SSC) (2283 families). RESULTS: We found a similar degree of phenotypic and ancestry-related AM in parents of children with an autism diagnosis regardless of the presence of ID. We did not find evidence of AM for autism based on autism polygenic scores (PGS) (at a threshold of |r|> 0.1). The adjustment of ancestry-related AM or autism PGS accounted for only 0.3-4% of the fractional change in the estimate of the phenotypic AM. The ancestry-related AM introduced higher long-range linkage disequilibrium (LD) between single nucleotide polymorphisms (SNPs) on different chromosomes that are highly ancestry-informative compared to SNPs that are less ancestry-informative (D(2) on the order of 1 * 10(-5)). LIMITATIONS: We only analyzed participants of European ancestry, limiting the generalizability of our results to individuals of non-European ancestry. SPARK and SSC were both multicenter studies. Therefore, there could be ancestry-related AM in SPARK and SSC due to geographic stratification. The study participants from each site were unknown, so we were unable to evaluate for geographic stratification. CONCLUSIONS: This study showed similar patterns of AM in autism with and without ID, and demonstrated that the common genetic influences of autism are likely relevant to both autism groups. The adjustment of ancestry-related AM and autism PGS accounted for < 5% of the fractional change in the estimate of the phenotypic AM. Future studies are needed to evaluate if the small increase of long-range LD induced by ancestry-related AM has impact on the downstream analysis. En ligne : https://dx.doi.org/10.1186/s13229-024-00605-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538
in Molecular Autism > 15 (2024) . - 27p.[article] Phenotypic and ancestry-related assortative mating in autism [texte imprimé] / Jing ZHANG, Auteur ; J. Dylan WEISSENKAMPEN, Auteur ; Rachel KEMBER, Auteur ; iPSYCH CONSORTIUM, Auteur ; Jakob GROVE, Auteur ; Anders D. BØRGLUM, Auteur ; Elise B. ROBINSON, Auteur ; Edward S. BRODKIN, Auteur ; Laura ALMASY, Auteur ; Maja BUČAN, Auteur ; Ronnie SEBRO, Auteur . - 27p.
Langues : Anglais (eng)
in Molecular Autism > 15 (2024) . - 27p.
Mots-clés : Humans Autistic Disorder/genetics Phenotype Male Female Linkage Disequilibrium Multifactorial Inheritance Child Genetic Predisposition to Disease Polymorphism, Single Nucleotide Adult Intellectual Disability/genetics Assortative mating Autism Genetic ancestry Intellectual disability Linkage disequilibrium Polygenic scores Index. décimale : PER Périodiques Résumé : BACKGROUND: Positive assortative mating (AM) in several neuropsychiatric traits, including autism, has been noted. However, it is unknown whether the pattern of AM is different in phenotypically defined autism subgroups [e.g., autism with and without intellectually disability (ID)]. It is also unclear what proportion of the phenotypic AM can be explained by the genetic similarity between parents of children with an autism diagnosis, and the consequences of AM on the genetic structure of the population. METHODS: To address these questions, we analyzed two family-based autism collections: the Simons Foundation Powering Autism Research for Knowledge (SPARK) (1575 families) and the Simons Simplex Collection (SSC) (2283 families). RESULTS: We found a similar degree of phenotypic and ancestry-related AM in parents of children with an autism diagnosis regardless of the presence of ID. We did not find evidence of AM for autism based on autism polygenic scores (PGS) (at a threshold of |r|> 0.1). The adjustment of ancestry-related AM or autism PGS accounted for only 0.3-4% of the fractional change in the estimate of the phenotypic AM. The ancestry-related AM introduced higher long-range linkage disequilibrium (LD) between single nucleotide polymorphisms (SNPs) on different chromosomes that are highly ancestry-informative compared to SNPs that are less ancestry-informative (D(2) on the order of 1 * 10(-5)). LIMITATIONS: We only analyzed participants of European ancestry, limiting the generalizability of our results to individuals of non-European ancestry. SPARK and SSC were both multicenter studies. Therefore, there could be ancestry-related AM in SPARK and SSC due to geographic stratification. The study participants from each site were unknown, so we were unable to evaluate for geographic stratification. CONCLUSIONS: This study showed similar patterns of AM in autism with and without ID, and demonstrated that the common genetic influences of autism are likely relevant to both autism groups. The adjustment of ancestry-related AM and autism PGS accounted for < 5% of the fractional change in the estimate of the phenotypic AM. Future studies are needed to evaluate if the small increase of long-range LD induced by ancestry-related AM has impact on the downstream analysis. En ligne : https://dx.doi.org/10.1186/s13229-024-00605-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538
Titre : Validity of Childhood Autism in the Danish Psychiatric Central Register: Findings from a Cohort Sample Born 1990–1999 Type de document : texte imprimé Auteurs : Marlene B. LAURITSEN, Auteur ; Diana SCHENDEL, Auteur ; Meta JORGENSEN, Auteur ; Kreesten M. MADSEN, Auteur ; Sanne LEMCKE, Auteur ; Susanne TOFT, Auteur ; Jakob GROVE, Auteur ; Poul THORSEN, Auteur Année de publication : 2010 Article en page(s) : p.139-148 Langues : Anglais (eng) Mots-clés : Quality Validity Autism Diagnosis Population-register Index. décimale : PER Périodiques Résumé : The purpose of this study was to assess the validity of the diagnosis of childhood autism in the Danish Psychiatric Central Register (DPCR) by reviewing medical records from 499 of 504 total children with childhood autism born 1990–1999. Based on review of abstracted behaviors recorded in case records from child psychiatric hospitals, case status determination was performed using a standardized coding scheme. In 499 children diagnosed with childhood autism in the DPCR, the diagnosis could be confirmed in 469 children (94%). Of the 30 non-confirmed cases, five were classified by the reviewers as non-autistic cases and the remaining 25 cases were either classified with another ASD diagnosis or the specific diagnosis was not possible to determine. En ligne : http://dx.doi.org/10.1007/s10803-009-0818-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=964
in Journal of Autism and Developmental Disorders > 40-2 (February 2010) . - p.139-148[article] Validity of Childhood Autism in the Danish Psychiatric Central Register: Findings from a Cohort Sample Born 1990–1999 [texte imprimé] / Marlene B. LAURITSEN, Auteur ; Diana SCHENDEL, Auteur ; Meta JORGENSEN, Auteur ; Kreesten M. MADSEN, Auteur ; Sanne LEMCKE, Auteur ; Susanne TOFT, Auteur ; Jakob GROVE, Auteur ; Poul THORSEN, Auteur . - 2010 . - p.139-148.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 40-2 (February 2010) . - p.139-148
Mots-clés : Quality Validity Autism Diagnosis Population-register Index. décimale : PER Périodiques Résumé : The purpose of this study was to assess the validity of the diagnosis of childhood autism in the Danish Psychiatric Central Register (DPCR) by reviewing medical records from 499 of 504 total children with childhood autism born 1990–1999. Based on review of abstracted behaviors recorded in case records from child psychiatric hospitals, case status determination was performed using a standardized coding scheme. In 499 children diagnosed with childhood autism in the DPCR, the diagnosis could be confirmed in 469 children (94%). Of the 30 non-confirmed cases, five were classified by the reviewers as non-autistic cases and the remaining 25 cases were either classified with another ASD diagnosis or the specific diagnosis was not possible to determine. En ligne : http://dx.doi.org/10.1007/s10803-009-0818-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=964
