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3. Dissecting the cross-trait effects of the FOXP2 GWAS hit on clinical and brain phenotypes in adults with ADHD

Author

Meyer, Gabriela Pessin, da Silva, Bruna Santos, Bandeira, Cibele Edom, Tavares, Maria Eduarda Araujo, Cupertino, Renata Basso, Oliveira, Eduarda Pereira, Müller, Diana, Kappel, Djenifer B., Teche, Stefania Pigatto, Vitola, Eduardo Schneider, Rohde, Luis Augusto, Rovaris, Diego Luiz, Grevet, Eugenio Horacio, and Bau, Claiton Henrique Dotto

Published
2023
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10. Mediation and Longitudinal Analysis to interpret the association between clozapine pharmacokinetics, pharmacogenomics, and absolute neutrophil count

Author

Lock, Siobhan K., primary, Legge, Sophie E., additional, Kappel, Djenifer B., additional, Willcocks, Isabella R., additional, Helthuis, Marinka, additional, Jansen, John, additional, Walters, James T. R., additional, Owen, Michael J., additional, O’Donovan, Michael C., additional, and Pardiñas, Antonio F., additional

Published
2023
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14. Replicated association of Synaptotagmin (SYT1) with ADHD and its broader influence in externalizing behaviors

Author

Cupertino, Renata Basso, Schuch, Jaqueline Bohrer, Bandeira, Cibele Edom, da Silva, Bruna Santos, Rovaris, Diego Luiz, Kappel, Djenifer B., Contini, Verônica, Salatino-Oliveira, Angélica, Vitola, Eduardo Schneider, Karam, Rafael Gomes, Hutz, Mara Helena, Rohde, Luis Augusto, Grevet, Eugenio Horacio, Bau, Claiton Henrique Dotto, and Mota, Nina Roth

Published
2017
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19. Genomic Stratification of Clozapine Prescription Patterns Using Schizophrenia Polygenic Scores

Author

Kappel, Djenifer B., primary, Legge, Sophie E., additional, Hubbard, Leon, additional, Willcocks, Isabella R., additional, O’Connell, Kevin S., additional, Smith, Robert L., additional, Molden, Espen, additional, Andreassen, Ole A., additional, King, Adrian, additional, Jansen, John, additional, Helthuis, Marinka, additional, Owen, Michael J., additional, O’Donovan, Michael C., additional, Walters, James T.R., additional, and Pardiñas, Antonio F., additional

Published
2023
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21. Pharmacokinetics and pharmacogenomics of clozapine in an ancestrally diverse sample: A longitudinal analysis and GWAS using clinical monitoring data from the UK

Author

Pardiñas, Antonio F., primary, Kappel, Djenifer B., additional, Roberts, Milly, additional, Tipple, Francesca, additional, Shitomi-Jones, Lisa M., additional, King, Adrian, additional, Jansen, John, additional, Helthuis, Marinka, additional, Owen, Michael J., additional, O’Donovan, Michael C., additional, and Walters, James T.R., additional

Published
2022
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23. Dissecting the cross-trait effects of the FOXP2 GWAS hit on clinical and brain phenotypes in adults with ADHD

Author

Meyer, Gabriela Pessin, primary, da Silva, Bruna Santos, additional, Bandeira, Cibele Edom, additional, Tavares, Maria Eduarda Araujo, additional, Cupertino, Renata Basso, additional, Oliveira, Eduarda Pereira, additional, Müller, Diana, additional, Kappel, Djenifer B., additional, Teche, Stefania Pigatto, additional, Vitola, Eduardo Schneider, additional, Rohde, Luis Augusto, additional, Rovaris, Diego Luiz, additional, Grevet, Eugenio Horacio, additional, and Bau, Claiton Henrique Dotto, additional

Published
2022
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25. Exploring the contribution to ADHD of genes involved in Mendelian disorders presenting with hyperactivity and/or inattention

Author

Fernàndez-Castillo, Noèlia, Cabana-Domínguez, Judit, Kappel, Djenifer B., Torrico, Bàrbara, Weber, Heike, Lesch, Klaus-Peter, Lao, Oscar, Reif, Andreas, Cormand, Bru, Universitat Autònoma de Barcelona, Psychiatrie & Neuropsychologie, and RS: MHeNs - R3 - Neuroscience

Subjects
Adult, Genetic Markers, Male, EXPRESSION, Genetic variants, Trastorns per dèficit d'atenció amb hiperactivitat en els infants, CORTEX, STRESS, Adolescent, Comorbidity, QH426-470, Pneumonia, Aspiration, Attention deficit disorder with hyperactivity in children, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, mental disorders, Genetics, Humans, ADHD, ddc:610, BRAIN, GENOME-WIDE ASSOCIATION, METAANALYSIS, Genetics (clinical), Aged, 030304 developmental biology, 0303 health sciences, genetic variants, MEMORY, rare mendelian disorders, Middle Aged, 3. Good health, Phenotype, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Trastorns per dèficit d'atenció amb hiperactivitat en els adults, Attention deficit disorder with hyperactivity in adults, Female, Rare mendelian disorders, SCHNURRI-2, Genètica, 030217 neurology & neurosurgery
Abstract

Attention-deficit hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder characterized by hyperactivity, impulsivity, and/or inattention, which are symptoms also observed in many rare genetic disorders. We searched for genes involved in Mendelian disorders presenting with ADHD symptoms in the Online Mendelian Inheritance in Man (OMIM) database, to curate a list of new candidate risk genes for ADHD. We explored the enrichment of functions and pathways in this gene list, and tested whether rare or common variants in these genes are associated with ADHD or with its comorbidities. We identified 139 genes, causal for 137 rare disorders, mainly related to neurodevelopmental and brain function. Most of these Mendelian disorders also present with other psychiatric traits that are often comorbid with ADHD. Using whole exome sequencing (WES) data from 668 ADHD cases, we found rare variants associated with the dimension of the severity of inattention symptoms in three genes: KIF11, WAC, and CRBN. Then, we focused on common variants and identified six genes associated with ADHD (in 19,099 cases and 34,194 controls): MANBA, UQCC2, HIVEP2, FOPX1, KANSL1, and AUH. Furthermore, HIVEP2, FOXP1, and KANSL1 were nominally associated with autism spectrum disorder (ASD) (18,382 cases and 27,969 controls), as well as HIVEP2 with anxiety (7016 cases and 14,475 controls), and FOXP1 with aggression (18,988 individuals), which is in line with the symptomatology of the rare disorders they are responsible for. In conclusion, inspecting Mendelian disorders and the genes responsible for them constitutes a valuable approach for identifying new risk genes and the mechanisms of complex disorders. This work was supported mainly by funding from the European Union H2020 Program [H2020/2014–2020, grant agreements n° 667302, 643051 and 728018, corresponding to projects CoCA, coca-project.eu/; Eat2BeNice: newbrainnutrition.com/ (accessed on 16 December 2021); and MiND; www.mind-project.eu (accessed on 16 December 2021), respectively], and from the ‘ECNP network on ADHD across the lifespan’. NC-F received funding from ‘Plan Nacional Sobre Drogas of the Spanish Ministry of Health‘ [PNSD-2020I042] and was supported by a contract of the ‘Centro de Investigación Biomédica en Red de Enfermedades Raras' (CIBERER). BC received funding from the Spanish ‘Ministerio de Economía y Competitividad’ [SAF2015-68341-R, RTI2018-100968-B-100 and PID2021-1277760B-I100], ‘Plan Nacional sobre Drogas of the Spanish Ministry of Health’ [PNSD-2017I050] and AGAUR, ‘Generalitat de Catalunya’ [2017-SGR-738]. JC-D and BT were supported by the H2020 CoCA (n° 667302) and Eat2beNICE (n° 728018) projects. DBK was supported by the European Union H2020 Program [H2020/2014-2020] under grant agreements n° 643051 (MiND) and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq-148273/2016-5). OL acknowledges the support from Spanish Ministry of Science and Innovation to the EMBL partnership, the Centro de Excelencia Severo Ochoa, CERCA Program/Generalitat de Catalunya, Spanish Ministry of Science and Innovation through the Instituto de Salud Carlos III, Generalitat de Catalunya through Departament de Salut and Departament d’Empresa i Coneixement, Co-financing with funds from the European Regional Development Fund by the Spanish Ministry of Science and Innovation corresponding to the Programa Operativo FEDER Plurirregional de España (POPE) 2014–2020 and by the Secretaria d’Universitats i Recerca, Departament d’Empresa i Coneixement of the Generalitat de Catalunya corresponding to the Programa Operatiu FEDER de Catalunya 2014–2020, Ministerio de Economía y Competitividad (Ministry of Economy and Competitiveness)—RYC-2013-14797, BFU2015-68759-P and PGC2018-098574-B-I00 and Generalitat de Catalunya (Government of Catalonia)—GRC 2017 SGR 937.

Published
2022

29. Exploring the Contribution to ADHD of Genes Involved in Mendelian Disorders Presenting with Hyperactivity and/or Inattention

Author

Fernàndez-Castillo, Noèlia, Cabana-Domínguez, Judit, Kappel, Djenifer B., Torrico, Bàrbara, Weber, Heike, Lesch, Klaus-Peter, Lao, Oscar, Reif, Andreas, Cormand, Bru, Universitat Autònoma de Barcelona, Fernàndez-Castillo, Noèlia, Cabana-Domínguez, Judit, Kappel, Djenifer B., Torrico, Bàrbara, Weber, Heike, Lesch, Klaus-Peter, Lao, Oscar, Reif, Andreas, Cormand, Bru, and Universitat Autònoma de Barcelona

Abstract

Attention-deficit hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder characterized by hyperactivity, impulsivity, and/or inattention, which are symptoms also observed in many rare genetic disorders. We searched for genes involved in Mendelian disorders presenting with ADHD symptoms in the Online Mendelian Inheritance in Man (OMIM) database, to curate a list of new candidate risk genes for ADHD. We explored the enrichment of functions and pathways in this gene list, and tested whether rare or common variants in these genes are associated with ADHD or with its comorbidities. We identified 139 genes, causal for 137 rare disorders, mainly related to neurodevelopmental and brain function. Most of these Mendelian disorders also present with other psychiatric traits that are often comorbid with ADHD. Using whole exome sequencing (WES) data from 668 ADHD cases, we found rare variants associated with the dimension of the severity of inattention symptoms in three genes: KIF11, WAC, and CRBN. Then, we focused on common variants and identified six genes associated with ADHD (in 19,099 cases and 34,194 controls): MANBA, UQCC2, HIVEP2, FOPX1, KANSL1, and AUH. Furthermore, HIVEP2, FOXP1, and KANSL1 were nominally associated with autism spectrum disorder (ASD) (18,382 cases and 27,969 controls), as well as HIVEP2 with anxiety (7016 cases and 14,475 controls), and FOXP1 with aggression (18,988 individuals), which is in line with the symptomatology of the rare disorders they are responsible for. In conclusion, inspecting Mendelian disorders and the genes responsible for them constitutes a valuable approach for identifying new risk genes and the mechanisms of complex disorders

Published
2021

31. F1NEUROIMAGING GENETICS OF REMISSION AND PERSISTENCE IN ADULTHOOD ADHD

Author

Cupertino, Renata Basso, primary, Bandeira, Cibele Edom, additional, Picon, Felipe Almeida, additional, Müller, Diana, additional, da Silva, Bruna Santos, additional, Kappel, Djenifer B., additional, Tavares, Maria Eduarda, additional, Pacer, Junior, additional, Breda, Vitor, additional, Teche, Stefania Pigatto, additional, Salgado, Carlos A.I., additional, Vitola, Eduardo S., additional, Grevet, Eugenio H., additional, and Bau, Claiton H.D., additional

Published
2019
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32. EXOCYTOSIS-RELATED GENE-SETS AND RESPONSE TO METHYLPHENIDATE TREATMENT IN ADULTS WITH ADHD

Author

da Silva, Bruna, primary, Kappel, Djenifer B., additional, Cupertino, Renata B., additional, Rovaris, Diego L., additional, Schuch, Jaqueline B., additional, Bandeira, Cibele, additional, Panzenhagen, Alana C., additional, Müller, Diana, additional, Mota, Nina R., additional, Vitola, Eduardo S., additional, Victor, Marcelo M., additional, Grevet, Eugenio H., additional, Contini, Verônica, additional, and Bau, Claiton H.D., additional

Published
2019
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33. FURTHER EVIDENCE FOR THE ASSOCIATION BETWEEN SYT1-RS2251214 AND USE OF STIMULANTS: CRACK COCAINE ADDICTION SUSCEPTIBILITY AND SEVERITY

Author

Cupertino, Renata Basso, primary, Santos da Silva, Bruna, additional, Kappel, Djenifer B., additional, Bohrer Schuch, Jaqueline, additional, Vieira, Breno Sanvicente, additional, von Diemen, Lisia, additional, Stolf, Anderson, additional, Kessler, Felix Henrique Paim, additional, Grevet, Eugênio Horácio, additional, Pechansky, Flávio, additional, Grassi-Oliveira, Rodrigo, additional, Bau, Claiton Henrique Dotto, additional, and Rovaris, Diego Luiz, additional

Published
2019
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34. F3GLOBAL 5-METHYLCYTOSINE LEVELS IN ADULTS WITH ATTENTION DEFICIT/HYPERACTIVITY DISORDER

Author

Müller, Diana, primary, Assis-Figueira, Natasha, additional, Cupertino, Renata Basso, additional, da Silva, Bruna S., additional, Bandeira, Cibele Edom, additional, Kappel, Djenifer B., additional, Charão, Mariele F., additional, Linden, Rafael, additional, Salgado, Carlos A.I., additional, Grevet, Eugenio H., additional, Bau, Claiton H.D., additional, and Rovaris, Diego L., additional

Published
2019
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35. GENE-SET ANALYSIS OF SEROTONERGIC SYNAPSE GENES IN ADULTHOOD ADHD

Author

Panzenhagen, Alana Castro, primary, Basso Cupertino, Renata, additional, Santos, Bruna, additional, Kappel, Djenifer B., additional, Schuch, Jaqueline B., additional, Müller, Diana, additional, Edom Bandeira, Cibele, additional, Rovaris, Diego, additional, Pigatto Teche, Stefania, additional, Salgado, Carlos A.I., additional, Roth Mota, Nina, additional, Grevet, Eugenio H., additional, Bau, Claiton H.D., additional, and Contini, Verônica, additional

Published
2019
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36. THE ROLE OF A NEURONAL DIFFERENTIATION GENE-SET IN ADHD SUSCEPTIBILITY

Author

Kappel, Djenifer B., primary, Rovaris, Diego L., additional, da Silva, Bruna S., additional, Cupertino, Renata B., additional, Müller, Diana, additional, Bandeira, Cibele E., additional, Panzenhagen, Alana C., additional, Breda, Vitor C.T., additional, Zeni, Gregory, additional, Mota, Nina R., additional, Grevet, Eugenio H., additional, and Bau, Claiton H., additional

Published
2019
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40. SA111 - FURTHER EVIDENCE FOR THE ASSOCIATION BETWEEN SYT1-RS2251214 AND USE OF STIMULANTS: CRACK COCAINE ADDICTION SUSCEPTIBILITY AND SEVERITY

Author

Cupertino, Renata Basso, Santos da Silva, Bruna, Kappel, Djenifer B., Bohrer Schuch, Jaqueline, Vieira, Breno Sanvicente, von Diemen, Lisia, Stolf, Anderson, Kessler, Felix Henrique Paim, Grevet, Eugênio Horácio, Pechansky, Flávio, Grassi-Oliveira, Rodrigo, Bau, Claiton Henrique Dotto, and Rovaris, Diego Luiz

Published
2019
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42. Genetic changes in severe haemophilia A

Author

Gorziza, Roberta P., primary, Vieira, Igor A., additional, Kappel, Djenifer B., additional, Rosset, Clévia, additional, Sinigaglia, Marialva, additional, Leiria, Leonardo B., additional, Salzano, Francisco M., additional, and Bandinelli, Eliane, additional

Published
2013
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43. NCAM1‐TTC12‐ANKK1‐DRD2gene cluster and the clinical and genetic heterogeneity of adults with ADHD

Author

Mota, Nina R., Rovaris, Diego L., Kappel, Djenifer B., Picon, Felipe A., Vitola, Eduardo S., Salgado, Carlos A. I., Karam, Rafael G., Rohde, Luis A., Grevet, Eugenio H., and Bau, Claiton H. D.

Abstract

Dysfunctions of the dopaminergic system have been implicated on the etiology of Attention Deficit/Hyperactivity Disorder (ADHD). Meta‐analyses addressing the association of the dopamine receptor D2 (DRD2) gene and ADHD were inconclusive due to excessive heterogeneity across studies. Both the great phenotypic heterogeneity of ADHD and the complexity of the genomic region where DRD2is located could contribute to the inconsistent findings. Most previous DRD2studies focused on the well‐known Taq1A (rs1800497) SNP, which is actually placed in a neighbor gene (ANKK1). These two genes, together with NCAM1and TTC12, form the NTAD gene cluster on Chr11q22–23. In order to address the reasons for the high heterogeneity previously reported on DRD2effects on ADHD, this study investigates the role of NTAD variants on ADHD susceptibility in adults and on the modulation of comorbidity and personality profiles in these patients. Functional polymorphisms from NTAD were analyzed, both individually and in haplotypes, on a sample of 520 adults with ADHD and 630 non‐ADHD controls. No direct association of NTAD variants with ADHD susceptibility itself was observed. However, different NTAD polymorphisms and haplotypes were associated to various phenotypes relevant to the clinical heterogeneity of ADHD, including Major Depressive Disorder, Generalized Anxiety Disorder, and Harm Avoidance and Persistence temperament scores. Therefore, these findings represent a possible explanation for the multiple conflicting findings regarding polymorphisms in this genomic region in psychiatry. The NTAD cluster may comprise a variety of independent molecular influences on various brain and behavior characteristics eventually associated with ADHD comorbidities and personality traits. © 2015 Wiley Periodicals, Inc.

Published
2015
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