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2. High Loading of Polygenic Risk for ADHD in Children With Comorbid Aggression

Author

Hamshere, Marian L, Langley, Kate, Martin, Joanna, Agha, Sharifah Shameem, Stergiakouli, Evangelia, Anney, Richard JL, Buitelaar, Jan, Faraone, Stephen V, Lesch, Klaus-Peter, Neale, Benjamin M, Franke, Barbara, Sonuga-Barke, Edmund, Asherson, Philip, Merwood, Andrew, Kuntsi, Jonna, Medland, Sarah E, Ripke, Stephan, Steinhausen, Hans-Christoph, Freitag, Christine, Reif, Andreas, Renner, Tobias J, Romanos, Marcel, Romanos, Jasmin, Warnke, Andreas, Meyer, Jobst, Palmason, Haukur, Vasquez, Alejandro Arias, Lambregts-Rommelse, Nanda, Roeyers, Herbert, Biederman, Joseph, Doyle, Alysa E, Hakonarson, Hakon, Rothenberger, Aribert, Banaschewski, Tobias, Oades, Robert D, McGough, James J, Kent, Lindsey, Williams, Nigel, Owen, Michael J, Holmans, Peter, O’Donovan, Michael C, and Thapar, Anita

Subjects
Prevention, Behavioral and Social Science, Human Genome, Genetics, Mental Health, Attention Deficit Hyperactivity Disorder (ADHD), Clinical Research, Brain Disorders, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Mental health, Aggression, Anxiety Disorders, Attention Deficit Disorder with Hyperactivity, Child, Child, Preschool, Comorbidity, Conduct Disorder, Depressive Disorder, Female, Genetic Predisposition to Disease, Genetic Variation, Humans, Male, Multifactorial Inheritance, United Kingdom, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

OBJECTIVE Although attention deficit hyperactivity disorder (ADHD) is highly heritable, genome-wide association studies (GWAS) have not yet identified any common genetic variants that contribute to risk. There is evidence that aggression or conduct disorder in children with ADHD indexes higher genetic loading and clinical severity. The authors examine whether common genetic variants considered en masse as polygenic scores for ADHD are especially enriched in children with comorbid conduct disorder. METHOD Polygenic scores derived from an ADHD GWAS meta-analysis were calculated in an independent ADHD sample (452 case subjects, 5,081 comparison subjects). Multivariate logistic regression analyses were employed to compare polygenic scores in the ADHD and comparison groups and test for higher scores in ADHD case subjects with comorbid conduct disorder relative to comparison subjects and relative to those without comorbid conduct disorder. Association with symptom scores was tested using linear regression. RESULTS Polygenic risk for ADHD, derived from the meta-analysis, was higher in the independent ADHD group than in the comparison group. Polygenic score was significantly higher in ADHD case subjects with conduct disorder relative to ADHD case subjects without conduct disorder. ADHD polygenic score showed significant association with comorbid conduct disorder symptoms. This relationship was explained by the aggression items. CONCLUSIONS Common genetic variation is relevant to ADHD, especially in individuals with comorbid aggression. The findings suggest that the previously published ADHD GWAS meta-analysis contains weak but true associations with common variants, support for which falls below genome-wide significance levels. The findings also highlight the fact that aggression in ADHD indexes genetic as well as clinical severity.

Published
2013

3. Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3

Author

Williams, Nigel M, Franke, Barbara, Mick, Eric, Anney, Richard JL, Freitag, Christine M, Gill, Michael, Thapar, Anita, O'Donovan, Michael C, Owen, Michael J, Holmans, Peter, Kent, Lindsey, Middleton, Frank, Zhang-James, Yanli, Liu, Lu, Meyer, Jobst, Nguyen, Thuy Trang, Romanos, Jasmin, Romanos, Marcel, Seitz, Christiane, Renner, Tobias J, Walitza, Susanne, Warnke, Andreas, Palmason, Haukur, Buitelaar, Jan, Rommelse, Nanda, Vasquez, Alejandro Arias, Hawi, Ziarih, Langley, Kate, Sergeant, Joseph, Steinhausen, Hans-Christoph, Roeyers, Herbert, Biederman, Joseph, Zaharieva, Irina, Hakonarson, Hakon, Elia, Josephine, Lionel, Anath C, Crosbie, Jennifer, Marshall, Christian R, Schachar, Russell, Scherer, Stephen W, Todorov, Alexandre, Smalley, Susan L, Loo, Sandra, Nelson, Stanley, Shtir, Corina, Asherson, Philip, Reif, Andreas, Lesch, Klaus-Peter, and Faraone, Stephen V

Subjects
Human Genome, Clinical Research, Mental Health, Genetics, Pediatric, Attention Deficit Hyperactivity Disorder (ADHD), Brain Disorders, Serious Mental Illness, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Attention Deficit Disorder with Hyperactivity, Canada, Causality, Child, Child, Preschool, Female, Gene Dosage, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, In Situ Hybridization, Fluorescence, Inheritance Patterns, Polymorphism, Single Nucleotide, Receptors, Nicotinic, Segmental Duplications, Genomic, United Kingdom, United States, alpha7 Nicotinic Acetylcholine Receptor, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

ObjectiveAttention deficit hyperactivity disorder (ADHD) is a common, highly heritable psychiatric disorder. Because of its multifactorial etiology, however, identifying the genes involved has been difficult. The authors followed up on recent findings suggesting that rare copy number variants (CNVs) may be important for ADHD etiology.MethodThe authors performed a genome-wide analysis of large, rare CNVs (100 kb in size, which segregated into 912 independent loci. Overall, the rate of rare CNVs >100 kb was 1.15 times higher in ADHD case subjects relative to comparison subjects, with duplications spanning known genes showing a 1.2-fold enrichment. In accordance with a previous study, rare CNVs >500 kb showed the greatest enrichment (1.28-fold). CNVs identified in ADHD case subjects were significantly enriched for loci implicated in autism and in schizophrenia. Duplications spanning the CHRNA7 gene at chromosome 15q13.3 were associated with ADHD in single-locus analysis. This finding was consistently replicated in an additional 2,242 ADHD case subjects and 8,552 comparison subjects from four independent cohorts from the United Kingdom, the United States, and Canada. Presence of the duplication at 15q13.3 appeared to be associated with comorbid conduct disorder.ConclusionsThese findings support the enrichment of large, rare CNVs in ADHD and implicate duplications at 15q13.3 as a novel risk factor for ADHD. With a frequency of 0.6% in the populations investigated and a relatively large effect size (odds ratio=2.22, 95% confidence interval=1.5–3.6), this locus could be an important contributor to ADHD etiology.

Published
2012

8. Meta-Analysis of Genome-Wide Association Studies of Attention-Deficit/Hyperactivity Disorder

Author

Neale, Benjamin M., Medland, Sarah E., Ripke, Stephan, Asherson, Philip, Franke, Barbara, Lesch, Klaus-Peter, Faraone, Stephen V., Nguyen, Thuy Trang, Schafer, Helmut, Holmans, Peter, Daly, Mark, Steinhausen, Hans-Christoph, Freitag, Christine, Reif, Andreas, Renner, Tobias J., Romanos, Marcel, Romanos, Jasmin, Walitza, Susanne, Warnke, Andreas, Meyer, Jobst, Palmason, Haukur, Buitelaar, Jan, Vasquez, Alejandro Arias, Lambregts-Rommelse, Nanda, Gill, Michael, Anney, Richard J. L., Langely, Kate, O'Donovan, Michael, Williams, Nigel, Owen, Michael, Thapar, Anita, Kent, Lindsey, Sergeant, Joseph, Roeyers, Herbert, Mick, Eric, Biederman, Joseph, Doyle, Alysa, Smalley, Susan, Loo, Sandra, Hakonarson, Hakon, Elia, Josephine, Todorov, Alexandre, Miranda, Ana, Mulas, Fernando, Ebstein, Richard P., Rothenberger, Aribert, Banaschewski, Tobias, Oades, Robert D., Sonuga-Barke, Edmund, McGough, James, Nisenbaum, Laura, Middleton, Frank, Hu, Xiaolan, and Nelson, Stan

Abstract

Objective: Although twin and family studies have shown attention-deficit/hyperactivity disorder (ADHD) to be highly heritable, genetic variants influencing the trait at a genome-wide significant level have yet to be identified. As prior genome-wide association studies (GWAS) have not yielded significant results, we conducted a meta-analysis of existing studies to boost statistical power. Method: We used data from four projects: a) the Children's Hospital of Philadelphia (CHOP); b) phase I of the International Multicenter ADHD Genetics project (IMAGE); c) phase II of IMAGE (IMAGE II); and d) the Pfizer-funded study from the University of California, Los Angeles, Washington University, and Massachusetts General Hospital (PUWMa). The final sample size consisted of 2,064 trios, 896 cases, and 2,455 controls. For each study, we imputed HapMap single nucleotide polymorphisms, computed association test statistics and transformed them to z-scores, and then combined weighted z-scores in a meta-analysis. Results: No genome-wide significant associations were found, although an analysis of candidate genes suggests that they may be involved in the disorder. Conclusions: Given that ADHD is a highly heritable disorder, our negative results suggest that the effects of common ADHD risk variants must, individually, be very small or that other types of variants, e.g., rare ones, account for much of the disorder's heritability. (Contains 3 figures and 3 tables.)

Published
2010
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12. Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders

Author

Waltes, Regina, Duketis, Eftichia, Knapp, Michael, Anney, Richard J. L., Huguet, Guillaume, Schlitt, Sabine, Jarczok, Tomasz A., Sachse, Michael, Kämpfer, Laura M., Kleinböck, Tina, Poustka, Fritz, Bölte, Sven, Schmötzer, Gabriele, Voran, Anette, Huy, Ellen, Meyer, Jobst, Bourgeron, Thomas, Klauck, Sabine M., Freitag, Christine M., and Chiocchetti, Andreas G.

Published
2014
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14. Meta-Analysis of Genome-Wide Association Studies of Attention-Deficit/Hyperactivity Disorder

Author

Neale, Benjamin M., Medland, Sarah E., Ripke, Stephan, Asherson, Philip, Franke, Barbara, Lesch, Klaus-Peter, Faraone, Stephen V., Nguyen, Thuy Trang, Schäfer, Helmut, Holmans, Peter, Daly, Mark, Steinhausen, Hans-Christoph, Freitag, Christine, Reif, Andreas, Renner, Tobias J., Romanos, Marcel, Romanos, Jasmin, Walitza, Susanne, Warnke, Andreas, Meyer, Jobst, Palmason, Haukur, Buitelaar, Jan, Vasquez, Alejandro Arias, Lambregts-Rommelse, Nanda, Gill, Michael, Anney, Richard J.L., Langely, Kate, O'Donovan, Michael, Williams, Nigel, Owen, Michael, Thapar, Anita, Kent, Lindsey, Sergeant, Joseph, Roeyers, Herbert, Mick, Eric, Biederman, Joseph, Doyle, Alysa, Smalley, Susan, Loo, Sandra, Hakonarson, Hakon, Elia, Josephine, Todorov, Alexandre, Miranda, Ana, Mulas, Fernando, Ebstein, Richard P., Rothenberger, Aribert, Banaschewski, Tobias, Oades, Robert D., Sonuga-Barke, Edmund, McGough, James, Nisenbaum, Laura, Middleton, Frank, Hu, Xiaolan, and Nelson, Stan

Published
2010
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15. Case-Control Genome-Wide Association Study of Attention-Deficit/Hyperactivity Disorder

Author

Neale, Benjamin M., Medland, Sarah, Ripke, Stephan, Anney, Richard J.L., Asherson, Philip, Buitelaar, Jan, Franke, Barbara, Gill, Michael, Kent, Lindsey, Holmans, Peter, Middleton, Frank, Thapar, Anita, Lesch, Klaus-Peter, Faraone, Stephen V., Daly, Mark, Nguyen, Thuy Trang, Schäfer, Helmut, Steinhausen, Hans-Christoph, Reif, Andreas, Renner, Tobias J., Romanos, Marcel, Romanos, Jasmin, Warnke, Andreas, Walitza, Susanne, Freitag, Christine, Meyer, Jobst, Palmason, Haukur, Rothenberger, Aribert, Hawi, Ziarih, Sergeant, Joseph, Roeyers, Herbert, Mick, Eric, and Biederman, Joseph

Published
2010
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30. Genome-wide linkage analysis of families with primary hyperhidrosis

Author

Schote, Andrea B, Schiel, Florian, Schmitt, Benedikt, Winnikes, Ulrike, Frank, Nicole, Gross, Katharina, Croyé, Marie-Anne, Tarragon, Ernesto, Bekhit, Adam, Bobbili, Dheeraj Reddy, May, Patrick, Schick, Christoph, Meyer, Jobst, and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]

Subjects
Exome sequencing, Male, Nicotinic Acetylcholine Receptors, Heredity, Transmembrane Receptors, Genetic Linkage, Single Nucleotide Polymorphisms, Science, Cholinergics, Emotions, Social Sciences, Polymorphism, Single Nucleotide, Biochemistry, Germany, Exome Sequencing, Genetics, Humans, Hyperhidrosis, Psychology, Genetic Predisposition to Disease, Alleles, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Biology and Life Sciences, Proteins, Neurochemistry, Neurotransmitters, Cell Biology, Pedigree, Genetic Mapping, Haplotypes, Genetic Loci, Acetylcholine Receptors, Linkage Analysis, Medicine, Female, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Linkage analysis, Genome-Wide Association Study, Research Article, Neuroscience, Signal Transduction
Abstract

Primary focal hyperhidrosis (PFH, OMIM %144110) is a genetically influenced condition characterised by excessive sweating. Prevalence varies between 1.0–6.1% in the general population, dependent on ethnicity. The aetiology of PFH remains unclear but an autosomal dominant mode of inheritance, incomplete penetrance and variable phenotypes have been reported. In our study, nine pedigrees (50 affected, 53 non-affected individuals) were included. Clinical characterisation was performed at the German Hyperhidrosis Centre, Munich, by using physiological and psychological questionnaires. Genome-wide parametric linkage analysis with GeneHunter was performed based on the Illumina genome-wide SNP arrays. Haplotypes were constructed using easyLINKAGE and visualised via HaploPainter. Whole-exome sequencing (WES) with 100x coverage in 31 selected members (24 affected, 7 non-affected) from our pedigrees was achieved by next generation sequencing. We identified four genome-wide significant loci, 1q41-1q42.3, 2p14-2p13.3, 2q21.2-2q23.3 and 15q26.3-15q26.3 for PFH. Three pedigrees map to a shared locus at 2q21.2-2q23.3, with a genome-wide significant LOD score of 3.45. The chromosomal region identified here overlaps with a locus at chromosome 2q22.1-2q31.1 reported previously. Three families support 1q41-1q42.3 (LOD = 3.69), two families share a region identical by descent at 2p14-2p13.3 (LOD = 3.15) and another two families at 15q26.3 (LOD = 3.01). Thus, our results point to considerable genetic heterogeneity. WES did not reveal any causative variants, suggesting that variants or mutations located outside the coding regions might be involved in the molecular pathogenesis of PFH. We suggest a strategy based on whole-genome or targeted next generation sequencing to identify causative genes or variants for PFH.

Published
2020

33. Genome-wide association study in German patients with attention deficit/hyperactivity disorder

Author

Hinney, Anke, Scherag, André, Jarick, Ivonne, Albayrak, Özgür, Pütter, Carolin, Pechlivanis, Sonali, Dauvermann, Maria R., Beck, Sebastian, Weber, Heike, Scherag, Susann, Nguyen, Trang T., Volckmar, Anna-Lena, Knoll, Nadja, Faraone, Stephen V., Neale, Benjamin M., Franke, Barbara, Cichon, Sven, Hoffmann, Per, Nöthen, Markus M., Schreiber, Stefan, Jöckel, Karl-Heinz, Wichmann, H.-Erich, Freitag, Christine, Lempp, Thomas, Meyer, Jobst, Gilsbach, Susanne, Herpertz-Dahlmann, Beate, Sinzig, Judith, Lehmkuhl, Gerd, Renner, Tobias J., Warnke, Andreas, Romanos, Marcel, Lesch, Klaus-Peter, Reif, Andreas, Schimmelmann, Benno G., and Hebebrand, Johannes

Published
2011
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40. Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

Author

Demontis, Ditte, Walters, Raymond K., Martin, Joanna, Mattheisen, Manuel, Als, Thomas D., Agerbo, Esben, Baldursson, Gisli, Belliveau, Rich, Bybjerg-Grauholm, Jonas, Baekvad-Hansen, Marie, Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Dumont, Ashley, Eriksson, Nicholas, Gandal, Michael, Goldstein, Jacqueline I., Grasby, Katrina L., Grove, Jakob, Gudmundsson, Olafur O., Hansen, Christine S., Hauberg, Mads Engel, Hollegaard, Mads V., Howrigan, Daniel P., Huang, Hailiang, Maller, Julian B., Martin, Alicia R., Martin, Nicholas G., Moran, Jennifer, Pallesen, Jonatan, Palmer, Duncan S., Pedersen, Carsten Bocker, Pedersen, Marianne Giortz, Poterba, Timothy, Poulsen, Jesper Buchhave, Ripke, Stephan, Robinson, Elise B., Satterstrom, F. Kyle, Stefansson, Hreinn, Stevens, Christine, Turley, Patrick, Walters, G. Bragi, Won, Hyejung, Wright, Margaret J., Andreassen, Ole A., Asherson, Philip, Burton, Christie L., Boomsma, Dorret I., Cormand, Bru, Dalsgaard, Soren, Franke, Barbara, Gelernter, Joel, Geschwind, Daniel, Hakonarson, Hakon, Haavik, Jan, Kranzler, Henry R., Kuntsi, Jonna, Langley, Kate, Lesch, Klaus-Peter, Middeldorp, Christel, Reif, Andreas, Rohde, Luis Augusto, Roussos, Panos, Schachar, Russell, Sklar, Pamela, Sonuga-Barke, Edmund J. S., Sullivan, Patrick F., Thapar, Anita, Tung, Joyce Y., Waldman, Irwin D., Medland, Sarah E., Stefansson, Kari, Nordentoft, Merete, Hougaard, David M., Werge, Thomas, Mors, Ole, Mortensen, Preben Bo, Daly, Mark J., Faraone, Stephen V., Borglum, Anders D., Neale, Benjamin M., Albayrak, Ozgur, Anney, Richard J. L., Arranz, Maria Jesus, Banaschewski, Tobias J., Bau, Claiton, Biederman, Joseph, Buitelaar, Jan K., Casas, Miguel, Charach, Alice, Crosbie, Jennifer, Dempfle, Astrid, Doyle, Alysa E., Ebstein, Richard P., Elia, Josephine, Freitag, Christine, Focker, Manuel, Gill, Michael, Grevet, Eugenio, Hawi, Ziarih, Hebebrand, Johannes, Herpertz-Dahlmann, Beate, Hervas, Amaia, Hinney, Anke, Hohmann, Sarah, Holmans, Peter, Hutz, Mara, Ickowitz, Abel, Johansson, Stefan, Kent, Lindsey, Kittel-Schneider, Sarah, Lambregts-Rommelse, Nanda, Lehmkuhl, Gerd, Loo, Sandra K., McGough, James J., Meyer, Jobst, Mick, Eric, Middletion, Frank, Miranda, Ana, Mota, Nina Roth, Mulas, Fernando, Mulligan, Aisling, Nelson, Freimer, Nguyen, T. Trang, Oades, Robert D., O'Donovan, Michael C., Owen, Michael J., Palmason, Haukur, Ramos-Quiroga, Josep Antoni, Renner, Tobias J., Ribases, Marta, Rietschel, Marcella, Rivero, Olga, Romanos, Jasmin, Romanos, Marcel, Rothenberger, Aribert, Royers, Herbert, Sanchez-Mora, Christina, Scherag, Andre, Schimmelmann, Benno G., Schafer, Helmut, Sergeant, Joseph, Sinzig, Judith, Smalley, Susan L., Steinhausen, Hans-Christoph, Thompson, Margaret, Todorov, Alexandre, Vasquez, Alejandro Arias, Walitza, Susanne, Wang, Yufeng, Warnke, Andreas, Williams, Nigel, Witt, Stephanie H., Yang, Li, Zayats, Tetyana, Zhang-James, Yanli, Smith, George Davey, Davies, Gareth E., Ehli, Erik A., Evans, David M., Fedko, Iryna O., Greven, Corina U., Groen-Blokhuis, Maria M., Guxens, Monica, Hammerschlag, Anke R., Hartman, Catharina A., Heinrich, Joachim, Hottenga, Jouke Jan, Hudziak, James, Jugessur, Astanand, Kemp, John P., Krapohl, Eva, Murcia, Mario, Myhre, Ronny, Nolte, Ilja M., Nyholt, Dale R., Ormel, Johan, Ouwens, Klaasjan G., Pappa, Irene, Pennell, Craig E., Plomin, Robert, Ring, Susan, Standl, Marie, Stergiakouli, Evie, St Pourcain, Beate, Stoltenberg, Camilla, Sunyer, Jordi, Thiering, Elisabeth, Tiemeier, Henning, Tiesler, Carla M. T., Timpson, Nicholas J., Trzaskowski, Maciej, van der Most, Peter Johannes, Vilor-Tejedor, Natalia, Wang, Carol A., Whitehouse, Andrew J. O., Zhao, Huiying, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Hromatka, Bethann S., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Vacic, Vladimir, Wilson, Catherine H., Demontis, Ditte, Walters, Raymond K., Martin, Joanna, Mattheisen, Manuel, Als, Thomas D., Agerbo, Esben, Baldursson, Gisli, Belliveau, Rich, Bybjerg-Grauholm, Jonas, Baekvad-Hansen, Marie, Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Dumont, Ashley, Eriksson, Nicholas, Gandal, Michael, Goldstein, Jacqueline I., Grasby, Katrina L., Grove, Jakob, Gudmundsson, Olafur O., Hansen, Christine S., Hauberg, Mads Engel, Hollegaard, Mads V., Howrigan, Daniel P., Huang, Hailiang, Maller, Julian B., Martin, Alicia R., Martin, Nicholas G., Moran, Jennifer, Pallesen, Jonatan, Palmer, Duncan S., Pedersen, Carsten Bocker, Pedersen, Marianne Giortz, Poterba, Timothy, Poulsen, Jesper Buchhave, Ripke, Stephan, Robinson, Elise B., Satterstrom, F. Kyle, Stefansson, Hreinn, Stevens, Christine, Turley, Patrick, Walters, G. Bragi, Won, Hyejung, Wright, Margaret J., Andreassen, Ole A., Asherson, Philip, Burton, Christie L., Boomsma, Dorret I., Cormand, Bru, Dalsgaard, Soren, Franke, Barbara, Gelernter, Joel, Geschwind, Daniel, Hakonarson, Hakon, Haavik, Jan, Kranzler, Henry R., Kuntsi, Jonna, Langley, Kate, Lesch, Klaus-Peter, Middeldorp, Christel, Reif, Andreas, Rohde, Luis Augusto, Roussos, Panos, Schachar, Russell, Sklar, Pamela, Sonuga-Barke, Edmund J. S., Sullivan, Patrick F., Thapar, Anita, Tung, Joyce Y., Waldman, Irwin D., Medland, Sarah E., Stefansson, Kari, Nordentoft, Merete, Hougaard, David M., Werge, Thomas, Mors, Ole, Mortensen, Preben Bo, Daly, Mark J., Faraone, Stephen V., Borglum, Anders D., Neale, Benjamin M., Albayrak, Ozgur, Anney, Richard J. L., Arranz, Maria Jesus, Banaschewski, Tobias J., Bau, Claiton, Biederman, Joseph, Buitelaar, Jan K., Casas, Miguel, Charach, Alice, Crosbie, Jennifer, Dempfle, Astrid, Doyle, Alysa E., Ebstein, Richard P., Elia, Josephine, Freitag, Christine, Focker, Manuel, Gill, Michael, Grevet, Eugenio, Hawi, Ziarih, Hebebrand, Johannes, Herpertz-Dahlmann, Beate, Hervas, Amaia, Hinney, Anke, Hohmann, Sarah, Holmans, Peter, Hutz, Mara, Ickowitz, Abel, Johansson, Stefan, Kent, Lindsey, Kittel-Schneider, Sarah, Lambregts-Rommelse, Nanda, Lehmkuhl, Gerd, Loo, Sandra K., McGough, James J., Meyer, Jobst, Mick, Eric, Middletion, Frank, Miranda, Ana, Mota, Nina Roth, Mulas, Fernando, Mulligan, Aisling, Nelson, Freimer, Nguyen, T. Trang, Oades, Robert D., O'Donovan, Michael C., Owen, Michael J., Palmason, Haukur, Ramos-Quiroga, Josep Antoni, Renner, Tobias J., Ribases, Marta, Rietschel, Marcella, Rivero, Olga, Romanos, Jasmin, Romanos, Marcel, Rothenberger, Aribert, Royers, Herbert, Sanchez-Mora, Christina, Scherag, Andre, Schimmelmann, Benno G., Schafer, Helmut, Sergeant, Joseph, Sinzig, Judith, Smalley, Susan L., Steinhausen, Hans-Christoph, Thompson, Margaret, Todorov, Alexandre, Vasquez, Alejandro Arias, Walitza, Susanne, Wang, Yufeng, Warnke, Andreas, Williams, Nigel, Witt, Stephanie H., Yang, Li, Zayats, Tetyana, Zhang-James, Yanli, Smith, George Davey, Davies, Gareth E., Ehli, Erik A., Evans, David M., Fedko, Iryna O., Greven, Corina U., Groen-Blokhuis, Maria M., Guxens, Monica, Hammerschlag, Anke R., Hartman, Catharina A., Heinrich, Joachim, Hottenga, Jouke Jan, Hudziak, James, Jugessur, Astanand, Kemp, John P., Krapohl, Eva, Murcia, Mario, Myhre, Ronny, Nolte, Ilja M., Nyholt, Dale R., Ormel, Johan, Ouwens, Klaasjan G., Pappa, Irene, Pennell, Craig E., Plomin, Robert, Ring, Susan, Standl, Marie, Stergiakouli, Evie, St Pourcain, Beate, Stoltenberg, Camilla, Sunyer, Jordi, Thiering, Elisabeth, Tiemeier, Henning, Tiesler, Carla M. T., Timpson, Nicholas J., Trzaskowski, Maciej, van der Most, Peter Johannes, Vilor-Tejedor, Natalia, Wang, Carol A., Whitehouse, Andrew J. O., Zhao, Huiying, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Hromatka, Bethann S., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Vacic, Vladimir, and Wilson, Catherine H.

Abstract

Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute substantially to ADHD susceptibility, but no variants have been robustly associated with ADHD. We report a genome-wide association meta-analysis of 20,183 individuals diagnosed with ADHD and 35,191 controls that identifies variants surpassing genome-wide significance in 12 independent loci, finding important new information about the underlying biology of ADHD. Associations are enriched in evolutionarily constrained genomic regions and loss-of-function intolerant genes and around brain-expressed regulatory marks. Analyses of three replication studies: a cohort of individuals diagnosed with ADHD, a self-reported ADHD sample and a meta-analysis of quantitative measures of ADHD symptoms in the population, support these findings while highlighting study-specific differences on genetic overlap with educational attainment. Strong concordance with GWAS of quantitative population measures of ADHD symptoms supports that clinical diagnosis of ADHD is an extreme expression of continuous heritable traits.

Published
2019

41. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

Author

Wagner, Thomas, Wirth, Jutta, Meyer, Jobst, Zabel, Bernhard, Held, Marika, Zimmer, Jurgen, Pasantes, Juan, Bricarelli, Franca Dagna, Keutel, Jurgen, Hustert, Elisabeth, Wolf, Ulrich, Tommerup, Niels, Schempp, Werner, and Scherer, Gerd

Subjects
Dysplasia -- Research, Mutagenesis -- Observations, Biological sciences
Abstract

The SOX9 protein of sox9 gene, which is indicated by its chromosomal location and expression pattern to be a potential candidate for campomelic dysplasia (CMPD1) codes for a putative transcription factor associated with the SRY testis-determining factor. Defunctionalizing mutations on a SOX9 allele indicate that CMPD1 and autosomal XY sex reversal arise from SOX9 haploinsufficiency.

Published
1994

42. A genetic investigation of sex bias in the prevalence of attention-deficit/hyperactivity disorder

Author

Martin, Joanna, Walters, Raymond K., Demontis, Ditte, Mattheisen, Manuel, Lee, S. Hong, Robinson, Elise, Brikell, Isabell, Ghirardi, Laura, Larsson, Henrik, Lichtenstein, Paul, Eriksson, Nicholas, Werge, Thomas, Mortensen, Preben Bo, Pedersen, Marianne Giørtz, Mors, Ole, Nordentoft, Merete, Hougaard, David M., Bybjerg-Grauholm, Jonas, Wray, Naomi R., Franke, Barbara, Faraone, Stephen V., O'Donovan, Michael, Thapar, Anita, Børglum, Anders D., Neale, Benjamin M., Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Hromatka, Bethann S., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Albayrak, Özgür, Anney, Richard J. L., Vasquez, Alejandro Arias, Arranz, Maria Jesús, Asherson, Philip, Banaschewski, Tobias, Banaschewski, Tobias J., Bau, Claiton, Biederman, Joseph, Buitelaar, Jan K., Casas, Miguel, Charach, Alice, Cormand, Bru, Crosbie, Jennifer, Dalsgaard, Soeren, Daly, Mark J., Dempfle, Astrid, Doyle, Alysa E., Ebstein, Richard P., Elia, Josephine, Föcker, Manuel, Freitag, Christine, Gelernter, Joel, Gill, Michael, Grevet, Eugenio, Haavik, Jan, Hakonarson, Hakon, Hawi, Ziarih, Hebebrand, Johannes, Herpertz-Dahlmann, Beate, Hervas, Amaia, Hinney, Anke, Hohmann, Sarah, Holmans, Peter, Hutz, Mara, Ickowitz, Abel, Johansson, Stefan, Kent, Lindsey, Kittel-Schneider, Sarah, Kranzler, Henry, Kuntsi, Jonna, Lambregts-Rommelse, Nanda, Langley, Kate, Lehmkuhl, Gerd, Lesch, Klaus-Peter, Loo, Sandra K., McGough, James J., Medland, Sarah E., Meyer, Jobst, Mick, Eric, Middletion, Frank, Miranda, Ana, Mulas, Fernando, Mulligan, Aisling, Nelson, Stan F., Nguyen, T. Trang, Oades, Robert D., Palmason, Haukur, Ramos-Quiroga, Josep Antoni, Reif, Andreas, Renner, Tobias J., Rhode, Luis, Ribasés, Marta, Rietschel, Marcella, Ripke, Stephan, Rivero, Olga, Sánchez-Mora, Cristina, Schachar, Russell, Schäfer, Helmut, Scherag, André, Schimmelmann, Benno G., Sergeant, Joseph, Sinzig, Judith, Smalley, Susan L., Sonuga-Barke, Edmund J.S., Steinhausen, Hans-Christoph, Sullivan, Patrick F., Thompsom, Margaret, Todorov, Alexandre, Waldman, Irwin, Walitza, Susanne, Wang, Yufeng, Warnke, Andreas, Williams, Nigel, Witt, Stephanie H., Yang, Li, Zayats, Tetyana, Zhang-James, Yanli, Agerbo, Esben, Damm Als, Thomas, Bækved-Hansen, Marie, Belliveau, Rich, Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Dalsgaard, Søren, Dumont, Ashley, Goldstein, Jacqueline, Grove, Jakob, Hansen, Christine S., Engel Hauberg, Mads, Hollegaard, Mads V., Howrigan, Daniel P., Huang, Hailiang, Maller, Julian, Martin, Alicia R., Moran, Jennifer, Pallesen, Jonatan, Palmer, Duncan S., Pedersen, Carsten Bøcker, Poterba, Timothy, Poulson, Jesper Buchhave, Robinson, Elise B., Satterstrom, F. Kyle, Stevens, Christine, and Turley, Patrick

Abstract

Background Attention-deficit/hyperactivity disorder (ADHD) shows substantial heritability and is 2-7 times more common in males than females. We examined two putative genetic mechanisms underlying this sex bias: sex-specific heterogeneity and higher burden of risk in female cases. Methods We analyzed genome-wide autosomal common variants from the Psychiatric Genomics Consortium and iPSYCH Project (20,183 cases, 35,191 controls) and Swedish populationregister data (N=77,905 cases, N=1,874,637 population controls). Results Genetic correlation analyses using two methods suggested near complete sharing of common variant effects across sexes, with rg estimates close to 1. Analyses of population data, however, indicated that females with ADHD may be at especially high risk of certain comorbid developmental conditions (i.e. autism spectrum disorder and congenital malformations), potentially indicating some clinical and etiological heterogeneity. Polygenic risk score (PRS) analysis did not support a higher burden of ADHD common risk variants in female cases (OR=1.02 [0.98-1.06], p=0.28). In contrast, epidemiological sibling analyses revealed that the siblings of females with ADHD are at higher familial risk of ADHD than siblings of affected males (OR=1.14, [95% CI: 1.11-1.18], p=1.5E-15). Conclusions Overall, this study supports a greater familial burden of risk in females with ADHD and some clinical and etiological heterogeneity, based on epidemiological analyses. However, molecular genetic analyses suggest that autosomal common variants largely do not explain the sex bias in ADHD prevalence.

Published
2018

50. Salivary endocannabinoids as mediators in the relationship between omega-6 and omega-3 fatty acid ratio intake from highly-processed foods and anthropometric markers of health in women.

Author

Tarragon, Ernesto, Bindila, Laura, Zimmer, Patrick, Lutz, Beat, and Meyer, Jobst

Subjects
OMEGA-6 fatty acids, OMEGA-3 fatty acids, WOMEN'S health, BODY composition, CANNABINOIDS, PROCESSED foods, FOOD, CONVENIENCE foods, ANTHROPOMETRY, SALIVA, NEUROTRANSMITTERS, DRUGS
Abstract

Data suggest that a high ω6 to ω3 ratio (ω6:ω3) contributes to obesity. Highly processed foods are a common source of high ω6:ω3 and have also been associated with increased cardiovascular risk. We hypothesised that salivary endocannabinoids (eCBs) act as a mediator between ω6:ω3 from highly processed foods and anthropometric markers of cardiovascular risk. Finally, we explored sex differences on these parameters. Participants filled a self-report intake frequency inventory. Body measurements were registered, and fasted saliva was collected and analysed using LC/MRM. Overweight subjects consuming more highly processed foods, but not those consuming more whole foods, presented an increased ω6:ω3 and salivary eCB levels. Also, the ω6:ω3 ratio in participants consuming highly processed but not whole foods predicted eCB levels in overweight women. Finally, we show that salivary eCBs correlate with body composition in women only. Our study shows that the food source has a differential impact on physiological and behavioural aspects of food intake. [ABSTRACT FROM AUTHOR]

Published
2020
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