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1. Common Genetic Variation and Age of Onset of Anorexia Nervosa.

Author

Watson, Hunna J, Thornton, Laura M, Yilmaz, Zeynep, Baker, Jessica H, Coleman, Jonathan RI, Adan, Roger AH, Alfredsson, Lars, Andreassen, Ole A, Ask, Helga, Berrettini, Wade H, Boehnke, Michael, Boehm, Ilka, Boni, Claudette, Buehren, Katharina, Bulant, Josef, Burghardt, Roland, Chang, Xiao, Cichon, Sven, Cone, Roger D, Courtet, Philippe, Crow, Scott, Crowley, James J, Danner, Unna N, de Zwaan, Martina, Dedoussis, George, DeSocio, Janiece E, Dick, Danielle M, Dikeos, Dimitris, Dina, Christian, Djurovic, Srdjan, Dmitrzak-Weglarz, Monika, Docampo-Martinez, Elisa, Duriez, Philibert, Egberts, Karin, Ehrlich, Stefan, Eriksson, Johan G, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Fernández-Aranda, Fernando, Fichter, Manfred M, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J, Frei, Oleksandr, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacòs, Mònica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hauser, Joanna, Havdahl, Alexandra, Hebebrand, Johannes, Helder, Sietske G, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Hübel, Christopher, Hudson, James I, Imgart, Hartmut, Jamain, Stephanie, Janout, Vladimir, Jiménez-Murcia, Susana, Jones, Ian R, Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Kaprio, Jaakko, Karhunen, Leila, Kas, Martien JH, Keel, Pamela K, Kennedy, James L, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Klareskog, Lars, Klump, Kelly L, Knudsen, Gun Peggy S, La Via, Maria C, Le Hellard, Stephanie, Leboyer, Marion, Li, Dong, Lilenfeld, Lisa, Lin, Bochao, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre, Maj, Mario, Marsal, Sara, Marshall, Christian R, Mattingsdal, Morten, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen S, and Monteleone, Alessio Maria

Subjects
Age of onset, Anorexia nervosa, Early-onset, GWAS, Genetic risk score, Genetics, Menarche, Mendelian randomization, Puberty, Mental Health, Human Genome, Eating Disorders, Anorexia, Brain Disorders, Pediatric, Prevention, Aetiology, 2.1 Biological and endogenous factors
Abstract

BackgroundGenetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche.MethodsA secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (

Published
2022

2. Genetic association study of childhood aggression across raters, instruments, and age.

Author

Ip, Hill, van der Laan, Camiel, Krapohl, Eva, Brikell, Isabell, Sánchez-Mora, Cristina, Nolte, Ilja, St Pourcain, Beate, Bolhuis, Koen, Palviainen, Teemu, Zafarmand, Hadi, Colodro-Conde, Lucía, Gordon, Scott, Zayats, Tetyana, Aliev, Fazil, Jiang, Chang, Wang, Carol, Saunders, Gretchen, Karhunen, Ville, Hammerschlag, Anke, Adkins, Daniel, Border, Richard, Peterson, Roseann, Prinz, Joseph, Thiering, Elisabeth, Seppälä, Ilkka, Vilor-Tejedor, Natàlia, Ahluwalia, Tarunveer, Day, Felix, Hottenga, Jouke-Jan, Allegrini, Andrea, Rimfeld, Kaili, Chen, Qi, Lu, Yi, Martin, Joanna, Soler Artigas, María, Rovira, Paula, Bosch, Rosa, Español, Gemma, Ramos Quiroga, Josep, Neumann, Alexander, Ensink, Judith, Grasby, Katrina, Morosoli, José, Tong, Xiaoran, Marrington, Shelby, Middeldorp, Christel, Scott, James, Vinkhuyzen, Anna, Shabalin, Andrey, Corley, Robin, Evans, Luke, Sugden, Karen, Alemany, Silvia, Sass, Lærke, Vinding, Rebecca, Ruth, Kate, Tyrrell, Jess, Davies, Gareth, Ehli, Erik, Hagenbeek, Fiona, De Zeeuw, Eveline, Van Beijsterveldt, Toos, Larsson, Henrik, Snieder, Harold, Verhulst, Frank, Amin, Najaf, Whipp, Alyce, Korhonen, Tellervo, Vuoksimaa, Eero, Rose, Richard, Uitterlinden, André, Heath, Andrew, Madden, Pamela, Haavik, Jan, Harris, Jennifer, Helgeland, Øyvind, Johansson, Stefan, Knudsen, Gun, Njolstad, Pal, Lu, Qing, Rodriguez, Alina, Henders, Anjali, Mamun, Abdullah, Najman, Jackob, Brown, Sandy, Hopfer, Christian, Krauter, Kenneth, Reynolds, Chandra, Smolen, Andrew, Stallings, Michael, Wadsworth, Sally, Wall, Tamara, Silberg, Judy, Miller, Allison, Keltikangas-Järvinen, Liisa, Hakulinen, Christian, Pulkki-Råback, Laura, Havdahl, Alexandra, Magnus, Per, and Raitakari, Olli

Subjects
Adolescent, Aggression, Child, Child, Preschool, Female, Genetic Association Studies, Genome-Wide Association Study, Humans, Infant, Mental Disorders, Retrospective Studies
Abstract

Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three significant genes: ST3GAL3 (P = 1.6E-06), PCDH7 (P = 2.0E-06), and IPO13 (P = 2.5E-06). All three genes have previously been associated with educational traits. Polygenic scores based on our GWAMA significantly predicted aggression in a holdout sample of children (variance explained = 0.44%) and in retrospectively assessed childhood aggression (variance explained = 0.20%). Genetic correlations (rg) among rater-specific assessment of AGG ranged from rg = 0.46 between self- and teacher-assessment to rg = 0.81 between mother- and teacher-assessment. We obtained moderate-to-strong rgs with selected phenotypes from multiple domains, but hardly with any of the classical biomarkers thought to be associated with AGG. Significant genetic correlations were observed with most psychiatric and psychological traits (range [Formula: see text]: 0.19-1.00), except for obsessive-compulsive disorder. Aggression had a negative genetic correlation (rg = ~-0.5) with cognitive traits and age at first birth. Aggression was strongly genetically correlated with smoking phenotypes (range [Formula: see text]: 0.46-0.60). The genetic correlations between aggression and psychiatric disorders were weaker for teacher-reported AGG than for mother- and self-reported AGG. The current GWAMA of childhood aggression provides a powerful tool to interrogate the rater-specific genetic etiology of AGG.

Published
2021

3. Shared genetic risk between eating disorder‐ and substance‐use‐related phenotypes: Evidence from genome‐wide association studies

Author

Munn‐Chernoff, Melissa A, Johnson, Emma C, Chou, Yi‐Ling, Coleman, Jonathan RI, Thornton, Laura M, Walters, Raymond K, Yilmaz, Zeynep, Baker, Jessica H, Hübel, Christopher, Gordon, Scott, Medland, Sarah E, Watson, Hunna J, Gaspar, Héléna A, Bryois, Julien, Hinney, Anke, Leppä, Virpi M, Mattheisen, Manuel, Ripke, Stephan, Yao, Shuyang, Giusti‐Rodríguez, Paola, Hanscombe, Ken B, Adan, Roger AH, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole A, Berrettini, Wade H, Boehm, Ilka, Boni, Claudette, Perica, Vesna Boraska, Buehren, Katharina, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Cone, Roger D, Courtet, Philippe, Crow, Scott, Crowley, James J, Danner, Unna N, Davis, Oliver SP, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece E, Dick, Danielle M, Dikeos, Dimitris, Dina, Christian, Dmitrzak‐Weglarz, Monika, Docampo, Elisa, Duncan, Laramie E, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández‐Aranda, Fernando, Fichter, Manfred M, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J, Forzan, Monica, Franklin, Christopher S, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Mayora, Monica Gratacos, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske G, Herms, Stefan, Herpertz‐Dahlmann, Beate, Herzog, Wolfgang, Huckins, Laura M, Hudson, James I, Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez‐Murcia, Susana, Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Karhunen, Leila, Karwautz, Andreas, Kas, Martien JH, Kennedy, James L, Keski‐Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl‐Ri, Klump, Kelly L, Knudsen, Gun Peggy S, and La Via, Maria C

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Epidemiology, Health Sciences, Psychology, Pharmacology and Pharmaceutical Sciences, Nutrition, Brain Disorders, Alcoholism, Alcohol Use and Health, Mental Health, Eating Disorders, Substance Misuse, Genetics, Tobacco Smoke and Health, Tobacco, Human Genome, Drug Abuse (NIDA only), Prevention, Clinical Research, 2.1 Biological and endogenous factors, 2.3 Psychological, social and economic factors, Aetiology, Mental health, Good Health and Well Being, Alcoholism, Depressive Disorder, Major, Feeding and Eating Disorders, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Phenotype, Polymorphism, Single Nucleotide, Risk Factors, Schizophrenia, Substance-Related Disorders, Tobacco Use Disorder, eating disorders, genetic correlation, substance use, Medical and Health Sciences, Psychology and Cognitive Sciences, Substance Abuse, Biomedical and clinical sciences, Health sciences
Abstract

Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [rg ], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from ~2400 to ~537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (rg = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (rg = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (rg = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (rgs = -0.19 to -0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotypes highlights the potentially complex and substance-specific relationships among these behaviors.

Published
2021

4. Author Correction: Characterization of the genetic architecture of infant and early childhood body mass index

Author

Helgeland, Øyvind, Vaudel, Marc, Sole-Navais, Pol, Flatley, Christopher, Juodakis, Julius, Bacelis, Jonas, Koløen, Ingvild L., Knudsen, Gun Peggy, Johansson, Bente B., Magnus, Per, Kjennerud, Ted Reichborn, Juliusson, Petur B., Stoltenberg, Camilla, Holmen, Oddgeir L., Andreassen, Ole A., Jacobsson, Bo, Njølstad, Pål R., and Johansson, Stefan

Published
2024
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5. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Author

Satterstrom, F Kyle, Kosmicki, Jack A, Wang, Jiebiao, Breen, Michael S, De Rubeis, Silvia, An, Joon-Yong, Peng, Minshi, Collins, Ryan, Grove, Jakob, Klei, Lambertus, Stevens, Christine, Reichert, Jennifer, Mulhern, Maureen S, Artomov, Mykyta, Gerges, Sherif, Sheppard, Brooke, Xu, Xinyi, Bhaduri, Aparna, Norman, Utku, Brand, Harrison, Schwartz, Grace, Nguyen, Rachel, Guerrero, Elizabeth E, Dias, Caroline, Consortium, Autism Sequencing, Aleksic, Branko, Anney, Richard, Barbosa, Mafalda, Bishop, Somer, Brusco, Alfredo, Bybjerg-Grauholm, Jonas, Carracedo, Angel, Chan, Marcus CY, Chiocchetti, Andreas G, Chung, Brian HY, Coon, Hilary, Cuccaro, Michael L, Curró, Aurora, Bernardina, Bernardo Dalla, Doan, Ryan, Domenici, Enrico, Dong, Shan, Fallerini, Chiara, Fernández-Prieto, Montserrat, Ferrero, Giovanni Battista, Freitag, Christine M, Fromer, Menachem, Gargus, J Jay, Geschwind, Daniel, Giorgio, Elisa, González-Peñas, Javier, Guter, Stephen, Halpern, Danielle, Hansen-Kiss, Emily, He, Xin, Herman, Gail E, Hertz-Picciotto, Irva, Hougaard, David M, Hultman, Christina M, Ionita-Laza, Iuliana, Jacob, Suma, Jamison, Jesslyn, Jugessur, Astanand, Kaartinen, Miia, Knudsen, Gun Peggy, Kolevzon, Alexander, Kushima, Itaru, Lee, So Lun, Lehtimäki, Terho, Lim, Elaine T, Lintas, Carla, Lipkin, W Ian, Lopergolo, Diego, Lopes, Fátima, Ludena, Yunin, Maciel, Patricia, Magnus, Per, Mahjani, Behrang, Maltman, Nell, Manoach, Dara S, Meiri, Gal, Menashe, Idan, Miller, Judith, Minshew, Nancy, Montenegro, Eduarda MS, Moreira, Danielle, Morrow, Eric M, Mors, Ole, Mortensen, Preben Bo, Mosconi, Matthew, Muglia, Pierandrea, Neale, Benjamin M, Nordentoft, Merete, Ozaki, Norio, Palotie, Aarno, Parellada, Mara, Passos-Bueno, Maria Rita, Pericak-Vance, Margaret, Persico, Antonio M, and Pessah, Isaac

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Mental Health, Pediatric, Human Genome, Clinical Research, Autism, Intellectual and Developmental Disabilities (IDD), Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Autistic Disorder, Case-Control Studies, Cell Lineage, Cerebral Cortex, Cohort Studies, Exome, Female, Gene Expression Regulation, Developmental, Gene Frequency, Genetic Predisposition to Disease, Humans, Male, Mutation, Missense, Neurobiology, Neurons, Phenotype, Sex Factors, Single-Cell Analysis, Exome Sequencing, Autism Sequencing Consortium, iPSYCH-Broad Consortium, autism spectrum disorder, cell type, cytoskeleton, excitatory neurons, excitatory-inhibitory balance, exome sequencing, genetics, inhibitory neurons, liability, neurodevelopment, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
Abstract

We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained to have severe neurodevelopmental delay, whereas 53 show higher frequencies in individuals ascertained to have ASD; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In cells from the human cortex, expression of risk genes is enriched in excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.

Published
2020

6. Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Author

Watson, Hunna J, Yilmaz, Zeynep, Thornton, Laura M, Hübel, Christopher, Coleman, Jonathan RI, Gaspar, Héléna A, Bryois, Julien, Hinney, Anke, Leppä, Virpi M, Mattheisen, Manuel, Medland, Sarah E, Ripke, Stephan, Yao, Shuyang, Giusti-Rodríguez, Paola, Hanscombe, Ken B, Purves, Kirstin L, Adan, Roger AH, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole A, Baker, Jessica H, Berrettini, Wade H, Boehm, Ilka, Boni, Claudette, Perica, Vesna Boraska, Buehren, Katharina, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Cone, Roger D, Courtet, Philippe, Crow, Scott, Crowley, James J, Danner, Unna N, Davis, Oliver SP, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece E, Dick, Danielle M, Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Duncan, Laramie E, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred M, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J, Forzan, Monica, Franklin, Christopher S, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Mayora, Monica Gratacos, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske G, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Huckins, Laura M, Hudson, James I, Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andreas, Kas, Martien JH, Kennedy, James L, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl-Ri, Klareskog, Lars, Klump, Kelly L, Knudsen, Gun Peggy S, La Via, Maria C, Le Hellard, Stephanie, and Levitan, Robert D

Subjects
Biological Sciences, Genetics, Anorexia, Serious Mental Illness, Nutrition, Prevention, Mental Health, Clinical Research, Human Genome, Brain Disorders, Pediatric, Eating Disorders, Mental health, Adult, Anorexia Nervosa, Body Mass Index, Case-Control Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genomics, Humans, Male, Mental Disorders, Metabolic Diseases, Phenotype, Prognosis, Quantitative Trait Loci, Anorexia Nervosa Genetics Initiative, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness1, affecting 0.9-4% of women and 0.3% of men2-4, with twin-based heritability estimates of 50-60%5. Mortality rates are higher than those in other psychiatric disorders6, and outcomes are unacceptably poor7. Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)8,9 and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.

Published
2019

9. Roadmap for a precision-medicine initiative in the Nordic region

Author

Njølstad, Pål Rasmus, Andreassen, Ole Andreas, Brunak, Søren, Børglum, Anders D., Dillner, Joakim, Esko, Tõnu, Franks, Paul W., Freimer, Nelson, Groop, Leif, Heimer, Hakon, Hougaard, David M., Hovig, Eivind, Hveem, Kristian, Jalanko, Anu, Kaprio, Jaakko, Knudsen, Gun Peggy, Melbye, Mads, Metspalu, Andres, Mortensen, Preben Bo, Palmgren, Juni, Palotie, Aarno, Reed, Wenche, Stefánsson, Hreinn, Stitziel, Nathan O., Sullivan, Patrick F., Thorsteinsdóttir, Unnur, Vaudel, Marc, Vuorio, Eero, Werge, Thomas, Stoltenberg, Camilla, and Stefánsson, Kári

Published
2019
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12. Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder

Author

Gudmundsson, Olafur O., Walters, G. Bragi, Ingason, Andres, Johansson, Stefan, Zayats, Tetyana, Athanasiu, Lavinia, Sonderby, Ida Elken, Gustafsson, Omar, Nawaz, Muhammad S., Jonsson, Gudbjorn F., Jonsson, Lina, Knappskog, Per-Morten, Ingvarsdottir, Ester, Davidsdottir, Katrin, Djurovic, Srdjan, Knudsen, Gun Peggy Strømstad, Askeland, Ragna Bugge, Haraldsdottir, Gyda S., Baldursson, Gisli, Magnusson, Pall, Sigurdsson, Engilbert, Gudbjartsson, Daniel F., Stefansson, Hreinn, Andreassen, Ole A., Haavik, Jan, Reichborn-Kjennerud, Ted, and Stefansson, Kari

Published
2019
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18. Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

Author

Olafsson, Sigurgeir, Stridh, Pernilla, Bos, Steffan Daniël, Ingason, Andres, Euesden, Jack, Sulem, Patrick, Thorleifsson, Gudmar, Gustafsson, Omar, Johannesson, Ari, Geirsson, Arni J., Thorsson, Arni V., Sigurgeirsson, Bardur, Ludviksson, Bjorn Runar, Olafsson, Elias, Kristjansdottir, Helga, Jonasson, Jon G., Olafsson, Jon Hjaltalin, Orvar, Kjartan B., Benediktsson, Rafn, Bjarnason, Ragnar, Kristjansdottir, Sjofn, Gislason, Thorarinn, Valdimarsson, Trausti, Mikaelsdottir, Evgenia, Sigurdsson, Snaevar, Jonsson, Stefan, Rafnar, Thorunn, Aarsland, Dag, Djurovic, Srdjan, Fladby, Tormod, Knudsen, Gun Peggy, Celius, Elisabeth G., Myhr, Kjell-Morten, Grondal, Gerdur, Steinsson, Kristjan, Valdimarsson, Helgi, Bjornsson, Sigurdur, Bjornsdottir, Unnur S., Bjornsson, Einar S, Nilsson, Bjorn, Andreassen, Ole A., Alfredsson, Lars, Hillert, Jan, Kockum, Ingrid Skelton, Masson, Gisli, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Stefansson, Hreinn, Hjaltason, Haukur, Harbo, Hanne F., Olsson, Tomas, Jonsdottir, Ingileif, and Stefansson, Kari

Published
2017
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22. Maternal Thyroid Function During Pregnancy or Neonatal Thyroid Function and Attention Deficit Hyperactivity Disorder : A Systematic Review

Author

Drover, Samantha S. M., Villanger, Gro D., Aase, Heidi, Skogheim, Thea S., Longnecker, Matthew P., Zoeller, R. Thomas, Reichborn-Kjennerud, Ted, Knudsen, Gun P., Zeiner, Pål, Engel, Stephanie M., Drover, Samantha S. M., Villanger, Gro D., Aase, Heidi, Skogheim, Thea S., Longnecker, Matthew P., Zoeller, R. Thomas, Reichborn-Kjennerud, Ted, Knudsen, Gun P., Zeiner, Pål, and Engel, Stephanie M.

Abstract

BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is the most common neurobehavioral disorder in children, yet its etiology is poorly understood. Early thyroid hormone disruption may contribute to the development of ADHD. Disrupted maternal thyroid hormone function has been associated with adverse neurodevelopmental outcomes in children. Among newborns, early-treated congenital hypothyroidism has been consistently associated with later cognitive deficits. METHODS: We systematically reviewed literature on the association between maternal or neonatal thyroid hormones and ADHD diagnosis or symptoms. We searched Embase, Pubmed, Cinahl, PsycInfo, ERIC, Medline, Scopus, and Web of Science for articles published or available ahead of print as of April 2018. RESULTS: We identified 28 eligible articles: 16 studies of maternal thyroid hormones, seven studies of early-treated congenital hypothyroidism, and five studies of neonatal thyroid hormones. The studies provide moderate evidence for an association between maternal thyroid hormone levels and offspring ADHD, some evidence for an association between early-treated congenital hypothyroidism and ADHD, and little evidence for an association between neonatal thyroid hormone levels and later ADHD. CONCLUSIONS: The reviewed articles suggest an association between maternal thyroid function and ADHD, and possibly between early-treated congenital hypothyroidism and ADHD. Study limitations, however, weaken the conclusions in our systematic review, underlining the need for more research. Importantly, there was much variation in the measurement of thyroid hormone function and of ADHD symptoms. Recommendations for future research include using population-based designs, attending to measurement issues for thyroid hormones and ADHD, considering biologically relevant covariates (e.g., iodine intake), and assessing nonlinear dose responses., Funding Agency:NIEHS, Grant Number: R01ES021777Intramural Research Program of the NIH, National Institute of Environmental Health Sciences

Published
2019
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23. Measurement of total and free urinary phenol and paraben concentrations over the course of pregnancy: assessing reliability and contamination of specimens in the Norwegian mother and child cohort study

Author

Guidry, Virginia T., Longnecker, Matthew P., Aase, Heidi, Eggesbo, Merete, Zeiner, Pal, Reichborn-Kjennerud, Ted, Knudsen, Gun P., Bertelsen, Randi J., Ye, Xiaoyun, Calafat, Antonia M., and Engel, Stephanie M.

Subjects
Parabens -- Measurement -- Health aspects, Pregnancy -- Health aspects -- Environmental aspects, Phenols (Class of compounds) -- Health aspects -- Measurement, Environmental issues, Health
Abstract

Background: Exposures to environmental phenols and parabens may be harmful, especially in utero. Prior studies have demonstrated high within-person variability of urinary concentrations across pregnancy. Objectives: We sought to measure phenol and paraben biomarker concentrations for the Norwegian Mother and Child Cohort (MoBa) study, assess within-person variability, and investigate any possible external phenol or paraben contamination of specimens. Methods: We collected three spot urine samples at approximately 17, 23, and 29 weeks gestation in a hospital setting and added a preservative containing ethyl paraben. We measured urinary concentrations and within-person variability for phenols and parabens in a MoBa sample (n = 45), including a subgroup of 15 participants previously randomly selected for a bisphenol A (BPA) exposure study who had unusually high total BPA concentrations. Additionally, we compared reliability results for total, conjugated, and free concentrations of phenolic compounds. Results: We detected total and free BPA, butyl paraben, propyl paraben, and methyl paraben in 100% of samples, total benzophenone-3 in 95% of samples, and infrequently detected free benzophenone-3 and total and free 2,4-dichlorophenol and 2,5-dichlorophenol. Intraclass correlation coefficients (ICCs) for total, conjugated, and free concentrations ranged from relatively low for BPA to moderate for propyl paraben. ICCs were generally similar overall and by subgroup. Conclusions: Using conjugated concentrations improved reliability estimates only for BPA. Measuring total and free concentrations, an approach that may be useful for future studies, allowed us to identify likely BPA and butyl paraben contamination of archived MoBa urine specimens., Introduction Phenols, including bisphenol A (BPA) and benzophenone-3, and parabens, which also contain a phenolic ring, are found in a number of common consumer products [Centers for Disease Control and [...]

Published
2015
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25. Testing Genetic and Environmental Associations Between Personality Disorders and Cocaine Use: A Population-Based Twin Study

Author

Gillespie, Nathan A., primary, Aggen, Steven H., additional, Gentry, Amanda E., additional, Neale, Michael C., additional, Knudsen, Gun P., additional, Krueger, Robert F., additional, South, Susan C., additional, Czajkowski, Nikolai, additional, Nesvåg, Ragnar, additional, Ystrom, Eivind, additional, Rosenström, Tom H., additional, Torvik, Fartein A., additional, Reichborn-Kjennerud, Ted, additional, and Kendler, Kenneth S., additional

Published
2018
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27. A population-based study of help seeking and self-medication among trauma-exposed individuals.

Author

Sheerin, Christina, Berenz, Erin C, Knudsen, Gun Peggy, Reichborn-Kjennerud, Ted, Kendler, Kenneth S, Aggen, Steven H, and Amstadter, Ananda B

Abstract

Epidemiologic studies of trauma highlight the imbalance between prevalence of psychiatric diagnoses and help seeking. We investigated prevalence and correlates of help seeking and self-medication in Norwegian adults with trauma history with a focus on common posttrauma outcomes of posttraumatic stress disorder (PTSD) and substance use disorders (alcohol or drug). Participants reporting at least 1 PTSD symptom (n = 307) were asked if they consulted with a doctor/another professional (help seeking) or used drugs/alcohol (self-medication) for trauma-related problems. PTSD, alcohol abuse or dependence (AUD), and drug use or dependence (DUD) were assessed via structured diagnostic interviews. Help seeking and self-medication were endorsed by 37.4% and 10.4% of the sample, respectively. As compared to the full sample, help seeking was endorsed at a greater rate in individuals with PTSD (χ2 = 8.59, p = .005) and at a lower rate in those with AUD (χ2 = 7.34, p < .004). Self-medication was more likely to be endorsed by individuals with PTSD than without PTSD (χ2 = 25.68, p < .001). In regression analyses, PTSD was associated with increased likelihood of self-medication (odds ratio [OR] = 4.56) and help seeking (OR = 2.29), while AUD was associated with decreased likelihood of help-seeking (OR = .29). When self-medication was included as a predictor, PTSD was no longer associated with help seeking, although AUD remained inversely associated. PTSD and AUDs have a nuanced relationship with formal help seeking as well as the use of substances to cope. Trauma-exposed individuals are likely engaging in adaptive and maladaptive coping strategies, the latter of which may be compounding distress. (PsycINFO Database Record [ABSTRACT FROM AUTHOR]

Published
2016
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28. Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome

Author

Charman, Tony, primary, Neilson, Tracey C S, additional, Mash, Veronica, additional, Archer, Hayley, additional, Gardiner, Mary T, additional, Knudsen, Gun P S, additional, McDonnell, Aoibhinn, additional, Perry, Jacqueline, additional, Whatley, Sharon D, additional, Bunyan, David J, additional, Ravn, Kirstine, additional, Mount, Rebecca H, additional, Hastings, Richard P, additional, Hulten, Maj, additional, Ørstavik, Karen Helene, additional, Reilly, Sheena, additional, Cass, Hilary, additional, Clarke, Angus, additional, Kerr, Alison M, additional, and Bailey, Mark E S, additional

Published
2005
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29. Twin study of genetic and aging effects on X chromosome inactivation

Author

Kristiansen, Marianne, primary, Knudsen, Gun P S, additional, Bathum, Lise, additional, Naumova, Anna K, additional, Sørensen, Thorkild I A, additional, Brix, Thomas H, additional, Svendsen, Anders J, additional, Christensen, Kaare, additional, Kyvik, Kirsten O, additional, and Ørstavik, Karen H, additional

Published
2005
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30. Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

Author

Li, Dong, Chang, Xiao, Connolly, John J., Tian, Lifeng, Liu, Yichuan, Bhoj, Elizabeth J., Robinson, Nora, Abrams, Debra, Li, Yun R., Bradfield, Jonathan P., Kim, Cecilia E., Li, Jin, Wang, Fengxiang, Snyder, James, Lemma, Maria, Hou, Cuiping, Wei, Zhi, Guo, Yiran, Qiu, Haijun, Mentch, Frank D., Thomas, Kelly A., Chiavacci, Rosetta M., Cone, Roger, Li, Bingshan, Sleiman, Patrick A., Boraska Perica, Vesna, Franklin, Christopher S., Floyd, James A. B., Thornton, Laura M., Huckins, Laura M., Southam, Lorraine, Rayner, N. William, Tachmazidou, Ioanna, Klump, Kelly L., Treasure, Janet, Schmidt, Ulrike, Tozzi, Federica, Kiezebrink, Kirsty, Hebebrand, Johannes, Gorwood, Philip, Adan, Roger A. H., Kas, Martien J. H., Favaro, Angela, Santonastaso, Paolo, Fernánde-Aranda, Fernando, Gratacos, Monica, Rybakowski, Filip, Dmitrzak-Weglarz, Monika, Kaprio, Jaakko, Keski-Rahkonen, Anna, Raevuori-Helkamaa, Anu, Van Furth, Eric F., Slof-Op’t Landt, Margarita C. T., Hudson, James I., Reichborn-Kjennerud, Ted, Knudsen, Gun Peggy S., Monteleone, Palmiero, Kaplan, Allan S., Karwautz, Andreas, Berrettini, Wade H., Schork, Nicholas J., Ando, Tetsuya, Inoko, Hidetoshi, Esko, Tõnu, Fischer, Krista, Männik, Katrin, Metspalu, Andres, Baker, Jessica H., DeSocio, Janiece E., Hilliard, Christopher E., O’Toole, Julie K., Pantel, Jacques, Szatkiewicz, Jin P., Zerwas, Stephanie, Davis, Oliver S. P., Helder, Sietske, Bühren, Katharina, Burghardt, Roland, de Zwaan, Martina, Egberts, Karin, Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Imgart, Hartmut, Scherag, André, Zipfel, Stephan, Boni, Claudette, Ramoz, Nicolas, Versini, Audrey, Danner, Unna N., Hendriks, Judith, Koeleman, Bobby P. C., Ophoff, Roel A., Strengman, Eric, van Elburg, Annemarie A., Bruson, Alice, Clementi, Maurizio, Degortes, Daniela, Forzan, Monica, Tenconi, Elena, Docampo, Elisa, Escaramís, Geòrgia, Jiménez-Murcia, Susana, Lissowska, Jolanta, Rajewski, Andrzej, Szeszenia-Dabrowska, Neonila, Slopien, Agnieszka, Hauser, Joanna, Karhunen, Leila, Meulenbelt, Ingrid, Slagboom, P. Eline, Tortorella, Alfonso, Maj, Mario, Dedoussis, George, Dikeos, Dimitris, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Tsitsika, Artemis, Papezova, Hana, Slachtova, Lenka, Martaskova, Debora, Kennedy, James L., Levitan, Robert D., Yilmaz, Zeynep, Huemer, Julia, Koubek, Doris, Merl, Elisabeth, Wagner, Gudrun, Lichtenstein, Paul, Breen, Gerome, Cohen-Woods, Sarah, Farmer, Anne, McGuffin, Peter, Cichon, Sven, Giegling, Ina, Herms, Stefan, Dan Rujescu, Schreiber, Stefan, Wichmann, H-Erich, Dina, Christian, Sladek, Rob, Gambaro, Giovanni, Soranzo, Nicole, Julia, Antonio, Marsal, Sara, Rabionet, Raquel, Gaborieau, Valerie, Dick, Danielle M., Palotie, Aarno, Ripatti, Samuli, Widén, Elisabeth, Andreassen, Ole A., Espeseth, Thomas, Lundervold, Astri, Reinvang, Ivar, Steen, Vidar M., Le Hellard, Stephanie, Mattingsdal, Morten, Ntalla, Ioanna, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Navratilova, Marie, Gallinger, Steven, Pinto, Dalila, Scherer, Stephen W., Aschauer, Harald, Carlberg, Laura, Schosser, Alexandra, Alfredsson, Lars, Ding, Bo, Klareskog, Lars, Padyukov, Leonid, Finan, Chris, Kalsi, Gursharan, Roberts, Marion, Barrett, Jeff C., Estivill, Xavier, Hinney, Anke, Sullivan, Patrick F., Zeggini, Eleftheria, Bulik, Cynthia M., Brandt, Harry, Crawford, Steve, Crow, Scott, Fichter, Manfred M., Halmi, Katherine A., Johnson, Craig, La Via, Maria C., Mitchell, James, Strober, Michael, Rotondo, Alessandro, Woodside, D. Blake, Keel, Pamela K., Lilenfeld, Lisa, Bergen, Andrew W., Berrettini, Wade, Kaye, Walter, Magistretti, Pierre, and Hakonarson, Hakon

Published
2017
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32. Structure of Genetic and Environmental Risk Factors for Symptoms of DSM-IV Borderline Personality Disorder.

Author

Reichborn-Kjennerud, Ted, Ystrom, Eivind, Neale, Michael C., Aggen, Steven H., Mazzeo, Suzanne E., Knudsen, Gun Peggy, Tambs, Kristian, Czajkowski, Nikolai O., and Kendler, Kenneth S.

Subjects
BORDERLINE personality disorder, SYMPTOMS, PATHOLOGICAL psychology, ENVIRONMENTAL health, PUBLIC health, HERITABILITY, GENETICS
Abstract

IMPORTANCE Previous studies have indicated that the psychopathological dimensions of borderline personality disorder (BPD) are influenced by a unitary liability factor. However, to our knowledge, the underlying etiological nature of the individual criteria for BPD as defined by the DSM-IV has not been explored. OBJECTIVE To determine the structure of genetic and environmental risk factors for the symptoms of BPD. DESIGN, SETTING, AND PARTICIPANTS Multivariate twin study with BPD criteria assessed by personal interview within a general community setting. Participants included 2794 young adults from the Norwegian Institute of Public Health Twin Panel. MAIN OUTCOMES AND MEASURES The 9 criteria for BPD assessed by the Structured Interview for DSM-IV Personality. RESULTS A common pathway model dominated by 1 highly heritable (55%) general BPD factor that strongly influenced all 9 BPD criteria (standardized path coefficients, 0.53-0.79) fit the data best. The model also included 2 additional common liability factors, mainly influencing criteria reflecting the affective and interpersonal dimensions. Both of these were mostly influenced by environmental liability factors (heritability, 29.3%and 2.2%). With 1 exception (criterion 2, unstable and intense relationships), the specific criteria were strongly influenced by environmental factors. Five of the 9 criterion-specific genetic effects were either 0 or negligible. CONCLUSIONS AND RELEVANCE These results indicate that most of the genetic effects on the individual BPD criteria derive from 1 highly heritable general BPD factor, whereas the environmental influences were mostly criterion specific. [ABSTRACT FROM AUTHOR]

Published
2013
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33. Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene

Author

Ørstavik, Karen Helene, Knudsen, Gun Peggy S., Nordgarden, Hilde, Ormerod, Eli, Strømme, Petter, Lazarou, Lazarous P., Rosser, Lyndon G., Prescott, Trine, and Houge, Gunnar

Abstract

X‐linked hypohidrotic ectodermal dysplasia (XLHED) is caused by mutations in the EDA gene. A girl with severe hypohidrotic ectodermal dysplasia and normal mental development had completely skewed X chromosome inactivation with only the paternal X active in peripheral blood cells. Routine chromosome analysis and sequencing of the EDA gene were normal. However, whole chromosome painting revealed a 9;X insertion. FISH analyses with BAC probes towards the EDA gene and the more distal region containing the XIST locus showed that an X chromosome fragment of at least 4 Mb containing XIST was inserted into 9p13 in conjunction with a de novo pericentric inversion of chromosome 9. The proximal breakpoint was within the EDA gene and the distal breakpoint was distal to the XIST locus. Both parents had normal chromosomes, and the mother had random X inactivation in peripheral blood cells. Because XIST was lacking on the X chromosome with the disrupted EDA gene, the normal X chromosome was inactivated resulting in severe XLHED. © 2007 Wiley‐Liss, Inc.

Published
2007
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34. Novel splicing mutation in the NEMO (IKK‐gamma) gene with severe immunodeficiency and heterogeneity of X‐chromosome inactivation

Author

Ørstavik, Karen Helene, Kristiansen, Marianne, Knudsen, Gun Peggy, Storhaug, Kari, Vege, Åshild, Eiklid, Kristin, Abrahamsen, Tore G, Smahi, Asma, and Steen‐Johnsen, Jon

Abstract

We report on a family with three stillborn males, three affected males who were small for gestational age and died within 8 months, and one male who died at age 5 years. This boy had cone‐shaped teeth and oligoodontia. He had serious bacterial infections and inflammatory bowel disease. Mutations in the NF‐κB essential modulator (NEMO) gene have recently been shown to be the cause of a group of ectodermal dysplasia and immunodeficiency disorders (EDA‐ID). Analysis of the NEMO gene revealed a nucleotide change in the consensus sequence of the splicing donor site of exon 6 IVS6 + 5G → A(1027 + 5G → A), which has not previously been described in EDA‐ID. RT‐PCR analysis of fibroblast RNA from an aborted affected male fetus demonstrated a skipping of exons 4, 5, and 6 which resulted in a truncated protein of about 35 kDa revealed by NEMO antibody. The skipping of exons 4, 5, and 6 did not affect the ORF of the C‐terminal of NEMO encoded by exons 7, 8, 9, and 10, which contains a coiled‐coil motif (CC2), a leucin‐zipper (LZ), and a zinc finger motif (ZF) sub‐domains of NEMO. IκBα degradation was strongly impaired in the fetal fibroblasts, suggesting an impaired NF‐κB signaling. One healthy carrier had a completely skewed X‐inactivation pattern with the normal X active, whereas the two other carriers had a random X‐inactivation pattern. This family may represent a new phenotype within the EDA‐ID disorders. From the heterogeneity in X‐inactivation phenotype, we conclude that this mutation is not deleterious enough to be lethal for peripheral blood cells. © 2005 Wiley‐Liss, Inc.

Published
2006
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35. Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear

Author

Kristiansen, Marianne, Knudsen, Gun Peggy, Søyland, Anne, Westvik, Jostein, and Ørstavik, Karen Helene

Abstract

Melnick-Needles syndrome is a rare putative X-linked dominant bone dysplasia. The patients have short stature, characteristic facial features, and a normal intelligence. The skeletal dysplasia includes S-shaped curvature of tubular bones and sclerosis of the base of the skull. The phenotype of affected individuals varies, even within families. This could be related to X chromosome inactivation. We report here on a very mildly affected mother and her two severely affected daughters with characteristic features of Melnick-Needles syndrome. In addition, the two daughters had very similar pigmented nevi on their back. X chromosome inactivation analysis of blood DNA revealed a skewed X inactivation pattern in all three affected females, with the normal X chromosome as the predominating active X chromosome. The X inactivation pattern was similar in buccal smear and blood DNA in the mother and one of the daughters, whereas the other daughter had a skewed pattern in blood only. X chromosome inactivation in blood and buccal smear DNA therefore does not explain the phenotypic variation in this family. The skewed X chromosome inactivation is in agreement with X-linked inheritance of Melnick-Needles syndrome and suggests a critical role of the Melnick-Needles gene in hematopoietic cell proliferation. Clinical evidence indicates that Melnick-Needles syndrome is allelic to the otopalatodigital syndromes, which have been assigned to Xq26-28. Haplotype analysis of the X chromosomes in this family was in agreement with the localization of the gene for Melnick-Needles syndrome to Xq25-qtel. © 2002 Wiley-Liss, Inc.

Published
2002
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36. A genome-wide association study of anorexia nervosa

Author

Boraska, Vesna, Franklin, Christopher S, Floyd, James AB, Thornton, Laura M, Huckins, Laura M, Southam, Lorraine, Rayner, N William, Tachmazidou, Ioanna, Klump, Kelly L, Treasure, Janet, Lewis, Cathryn M, Schmidt, Ulrike, Tozzi, Federica, Kiezebrink, Kirsty, Hebebrand, Johannes, Gorwood, Philip, Adan, Roger AH, Kas, Martien JH, Favaro, Angela, Santonastaso, Paolo, Fernández-Aranda, Fernando, Gratacos, Monica, Rybakowski, Filip, Dmitrzak-Weglarz, Monika, Kaprio, Jaakko, Keski-Rahkonen, Anna, Raevuori, Anu, Van Furth, Eric F, Slof-Op t Landt, Margarita CT, Hudson, James I, Reichborn-Kjennerud, Ted, Knudsen, Gun Peggy S, Monteleone, Palmiero, Kaplan, Allan S, Karwautz, Andreas, Hakonarson, Hakon, Berrettini, Wade H, Guo, Yiran, Li, Dong, Schork, Nicholas J., Komaki, Gen, Ando, Tetsuya, Inoko, Hidetoshi, Esko, Tõnu, Fischer, Krista, Männik, Katrin, Metspalu, Andres, Baker, Jessica H, Cone, Roger D, Dackor, Jennifer, DeSocio, Janiece E, Hilliard, Christopher E, O’Toole, Julie K, Pantel, Jacques, Szatkiewicz, Jin P, Taico, Chrysecolla, Zerwas, Stephanie, Trace, Sara E, Davis, Oliver SP, Helder, Sietske, Bühren, Katharina, Burghardt, Roland, de Zwaan, Martina, Egberts, Karin, Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Imgart, Hartmut, Scherag, André, Scherag, Susann, Zipfel, Stephan, Boni, Claudette, Ramoz, Nicolas, Versini, Audrey, Brandys, Marek K, Danner, Unna N, de Kovel, Carolien, Hendriks, Judith, Koeleman, Bobby PC, Ophoff, Roel A, Strengman, Eric, van Elburg, Annemarie A, Bruson, Alice, Clementi, Maurizio, Degortes, Daniela, Forzan, Monica, Tenconi, Elena, Docampo, Elisa, Escaramís, Geòrgia, Jiménez-Murcia, Susana, Lissowska, Jolanta, Rajewski, Andrzej, Szeszenia-Dabrowska, Neonila, Slopien, Agnieszka, Hauser, Joanna, Karhunen, Leila, Meulenbelt, Ingrid, Slagboom, P Eline, Tortorella, Alfonso, Maj, Mario, Dedoussis, George, Dikeos, Dimitris, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Tsitsika, Artemis, Papezova, Hana, Slachtova, Lenka, Martaskova, Debora, Kennedy, James L., Levitan, Robert D., Yilmaz, Zeynep, Huemer, Julia, Koubek, Doris, Merl, Elisabeth, Wagner, Gudrun, Lichtenstein, Paul, Breen, Gerome, Cohen-Woods, Sarah, Farmer, Anne, McGuffin, Peter, Cichon, Sven, Giegling, Ina, Herms, Stefan, Rujescu, Dan, Schreiber, Stefan, Wichmann, H-Erich, Dina, Christian, Sladek, Rob, Gambaro, Giovanni, Soranzo, Nicole, Julia, Antonio, Marsal, Sara, Rabionet, Raquel, Gaborieau, Valerie, Dick, Danielle M, Palotie, Aarno, Ripatti, Samuli, Widén, Elisabeth, Andreassen, Ole A, Espeseth, Thomas, Lundervold, Astri, Reinvang, Ivar, Steen, Vidar M, Le Hellard, Stephanie, Mattingsdal, Morten, Ntalla, Ioanna, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Navratilova, Marie, Gallinger, Steven, Pinto, Dalila, Scherer, Stephen, Aschauer, Harald, Carlberg, Laura, Schosser, Alexandra, Alfredsson, Lars, Ding, Bo, Klareskog, Lars, Padyukov, Leonid, Finan, Chris, Kalsi, Gursharan, Roberts, Marion, Logan, Darren W, Peltonen, Leena, Ritchie, Graham RS, Barrett, Jeffrey C, Estivill, Xavier, Hinney, Anke, Sullivan, Patrick F, Collier, David A, Zeggini, Eleftheria, and Bulik, Cynthia M

Subjects
anorexia nervosa, eating disorders, GWAS, genome-wide association study, body mass index, metabolic
Abstract

Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome wide association study (GWAS) have yielded significant and replicated results. We performed a GWAS in 2,907 cases with AN from 14 countries (15 sites) and 14,860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3). Individual association analyses were conducted in each stratum and meta-analyzed across all 15 discovery datasets. Seventy-six (72 independent) SNPs were taken forward for in silico (two datasets) or de novo (13 datasets) replication genotyping in 2,677 independent AN cases and 8,629 European ancestry controls along with 458 AN cases and 421 controls from Japan. The final global meta-analysis across discovery and replication datasets comprised 5,551 AN cases and 21,080 controls. AN subtype analyses (1,606 AN restricting; 1,445 AN binge-purge) were performed. No findings reached genome-wide significance. Two intronic variants were suggestively associated: rs9839776 (P=3.01×10−7) in SOX2OT and rs17030795 (P=5.84×10−6) in PPP3CA. Two additional signals were specific to Europeans: rs1523921 (P=5.76×10−6) between CUL3 and FAM124B and rs1886797 (P=8.05×10−6) near SPATA13. Comparing discovery to replication results, 76% of the effects were in the same direction, an observation highly unlikely to be due to chance (P= 4×10−6), strongly suggesting that true findings exist but that our sample, the largest yet reported, was underpowered for their detection. The accrual of large genotyped AN case-control samples should be an immediate priority for the field.

Published
2013
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37. Data must be shared—also with researchers outside of Europe

Author

Ursin, Giske, Stenbeck, Magnus, Chang-Claude, Jenny, Gunter, Marc, Kaaks, Rudolf, Kampman, Ellen, Lambe, Mats, van Leeuwen, Flora, Magnusson, Patrik, Malila, Nea, Nilbert, Mef C, Romundstad, Pål R, Röösli, Martin, Ryel, Anne Lise, dos-Santos-Silva, Isabel, Storm, Hans H, Swerdlow, Anthony, Vineis, Paolo, and Knudsen, Gun Peggy S

Published
2019
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38. Sharing data safely while preserving privacy

Author

Ursin, Giske, Malila, Nea, Chang-Claude, Jenny, Gunter, Marc, Kaaks, Rudolf, Kampman, Ellen, Lambe, Mats, van Leeuwen, Flora, Magnusson, Patrik, Nilbert, Mef C, Romundstad, Pål R, Röösli, Martin, Ryel, Anne Lise, dos-Santos-Silva, Isabel, Stenbeck, Magnus, Storm, Hans H, Swerdlow, Anthony, Vineis, Paolo, and Knudsen, Gun Peggy S

Published
2019
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