7 results on '"Schosser, Alexandra"'
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2. Homozygosity of the interleukin-10 receptor 1 G330R allele is associated with schizophrenia.
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Schosser A, Aschauer HN, Wildenauer DB, Schwab SG, Albus M, Maier W, Schloegelhofer M, Leisch F, Hornik K, Murray SS, and Gasche C
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- Alleles, Arginine genetics, Case-Control Studies, Female, Gene Frequency, Genetic Linkage, Genotype, Glycine genetics, Humans, Male, Models, Genetic, Homozygote, Interleukin-10 Receptor alpha Subunit genetics, Polymorphism, Single Nucleotide, Schizophrenia genetics
- Abstract
Infections of unknown origin and an altered immune response have been hypothesized to play a role in the pathogenesis of schizophrenia. We have previously identified two single nucleotide polymorphisms (SNPs) of the IL-10 receptor 1 (IL-10R1) causing a substitution of glycine 330 to arginine (G330R) and of serine 138 to glycine (S138G). A possible association between these IL-10R1 variants and schizophrenia has been investigated in the present study. DNA of 101 unrelated Austrian patients with a DSM-III-R (Diagnostic and Statistical Manual of Mental Disorders) consensus diagnosis of schizophrenia (n = 70) or schizoaffective disorder (n = 31) and DNA of 121 German schizophrenic patients (DSM-III-R) was analyzed for the presence of S138G and G330R by allele-specific multiplex PCRs. Data from patients were compared with 250 unrelated, psychiatric healthy controls. No difference in allele frequency was detected between patients and controls (G330R: 34.0% vs. 30.0%, P = 0.208; S138G: 19.7% vs. 16.6%, P = 0.235; by Fisher's exact test). However, there was a significant difference in genotype distribution (wt/wt, wt/mut, mut/mut) for G330R between patients (46.8%, 38.3%, 14.9%) and controls (47.6%, 44.8%, 7.6%; Fisher's test P = 0.032). No such difference was seen for S138G. Our results suggest that homozygosity of the IL-10R1 G330R allele is associated with schizophrenia and may contribute to the expression of disease phenotype in susceptible individuals., ((c) 2006 Wiley-Liss, Inc.)
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- 2007
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3. [In search of susceptibility genes for schizophrenia].
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Schosser A and Aschauer HN
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- Abnormalities, Multiple genetics, Adult, Animals, Brain enzymology, Catechol O-Methyltransferase genetics, Catechol O-Methyltransferase metabolism, Chromosome Aberrations, Chromosomes, Human, Pair 22 genetics, Face abnormalities, Gene Expression, Genetic Linkage, Genetic Predisposition to Disease, Glutamic Acid genetics, Heart Defects, Congenital complications, Heart Defects, Congenital genetics, Humans, Meta-Analysis as Topic, Mice, Mice, Knockout, Neuregulin-1 genetics, Palate, Soft abnormalities, Proline Oxidase genetics, Proline Oxidase metabolism, RGS Proteins genetics, Risk Factors, Schizophrenia enzymology, Schizophrenia etiology, Schizophrenia metabolism, Syndrome, Schizophrenia genetics
- Abstract
After the recent discovery and replication of several schizophrenia candidate regions on multiple chromosomes, susceptibility genes for schizophrenia could be identified for the first time. Each of these discoveries resulted from association studies within chromosomal regions first identified by linkage analyses. Within the last two years, the susceptibility genes Neuregulin1, Dysbindin, D-amino-acid-oxidase (DAAO) and G72 were discovered, which, in the variant forms, reduce glutamatergic activity in brain. Therefore, they are related to the so-called "Glutamate-hypothesis", which postulates a hypofunction of the glutamatergic system. Adults with VCFS (velo-cardio-facial-syndrome), where a deletion on chromosome 22q11 can be found, show a very high incidence of schizophrenia. In addition, 2% of patients with schizophrenia exhibit this 22q11-deletion. Within the VCFS-deleted region on chromosome 22q11, the genes coding for proline dehydrogenase (PRODH) and catechol-O-methyltransferase (COMT) were also found to be significantly associated with schizophrenia. Proline is a pre-stage of glutamate, and in addition, it seems to be a neuromodulator of glutamatergic transmission in the brain. COMT is one of the two enzymes degrading catecholamines such as dopamine. Therefore, it plays a large role in the cortical dopamine metabolism. Furthermore, an association of schizophrenia with the gene RGS4 (regulator-of-G-protein-signaling-4), a modulator of the function of multiple G-protein-linked neurotransmitter receptors, was identified. Gene-expression-analyses of postmortem cerebral cortex (prefrontal) indicate that the transcription of RGS4 is diminished within schizophrenics. In accordance with the fact that schizophrenia is a disease with a multifactorial etiology, it should be emphasized that the described biological risk factors can increase susceptibility, but that none of them can cause the disease alone.
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- 2004
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4. Possible linkage of schizophrenia and bipolar affective disorder to chromosome 3q29; a follow-up.
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Schosser A, Fuchs K, Leisch F, Bailer U, Meszaros K, Lenzinger E, Willinger U, Strobl R, Heiden A, Gebhardt C, Kasper S, Sieghart W, Hornik K, and Aschauer HN
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- Adult, Female, Genotype, Humans, Male, Middle Aged, Pedigree, Polymorphism, Single Nucleotide, Bipolar Disorder genetics, Chromosomes, Human, Pair 3 genetics, Genetic Linkage, Genetic Markers, Schizophrenia genetics
- Abstract
The present linkage study is a follow-up within the chromosome 3q29 region in schizophrenia and bipolar affective disorder families, based on our recently published genome scan, resulting in evidence for linkage of both disorders to this region (marker D3S1265: NPL [non parametric lod] score Z(all)=3.74, P=0.003). Using the same family sample (five pedigrees with schizophrenic index patients and three pedigrees with index bipolar disorder patients N=86; 50 of them were available for genotyping), genotyping of eight additional markers close to D3S1265 was done. Five of those new markers (three centromeric and two telomeric of D3S1265) spanning 4.14 cM (centiMorgan) could be used for statistical analyses ("new markers"). Moreover, marker D3S1265, genotyped within the published genome scan, was used for additional calculations. Linkage analysis was performed using the GENEHUNTER program version 2.1r3. Within newly genotyped markers the highest NPL score Z(all) observed was 1.93296 with the telomeric SNP (single nucleotide polymorphism) rs1835669, corresponding to P=0.032166. Statistical analysis including D3S1265, located in between the newly genotyped markers, resulted in a peak NPL score Z(all)=4.00179 with marker D3S1265, that is P=0.000128. Doing subset analyses of the bipolar disorder and schizophrenia families separately with new markers and D3S1265, linkage signals arose substantially from bipolar disorder families, with contribution from schizophrenia families, too. The results of our follow-up study support our previous linkage finding of schizophrenia and bipolar affective disorder to chromosome 3q29.
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- 2004
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5. The “DGPPN-Cohort”: a national collaboration initiative by the German Association for Psychiatry and Psychotherapy (DGPPN) for establishing a large-scale cohort of psychiatric patients
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Anderson-Schmidt, Heike, Adler, Lothar, Aly, Chadiga, Anghelescu, Ion-George, Bauer, Michael, Baumgärtner, Jessica, Becker, Joachim, Bianco, Roswitha, Becker, Thomas, Bitter, Cosima, Bönsch, Dominikus, Buckow, Karoline, Budde, Monika, Bührig, Martin, Deckert, Jürgen, Demiroglu, Sara Y., Dietrich, Detlef, Dümpelmann, Michael, Engelhardt, Uta, Fallgatter, Andreas J., Feldhaus, Daniel, Figge, Christian, Folkerts, Here, Franz, Michael, Gade, Katrin, Gaebel, Wolfgang, Grabe, Hans-Jörgen, Gruber, Oliver, Gullatz, Verena, Gusky, Linda, Heilbronner, Urs, Helbing, Krister, Hegerl, Ulrich, Heinz, Andreas, Hensch, Tilman, Hiemke, Christoph, Jäger, Markus, Jahn-Brodmann, Anke, Juckel, Georg, Kandulski, Franz, Kaschka, Wolfgang P., Kircher, Tilo, Koller, Manfred, Konrad, Carsten, Kornhuber, Johannes, Krause, Marina, Krug, Axel, Lee, Mahsa, Leweke, Markus, Lieb, Klaus, Mammes, Mechthild, Meyer-Lindenberg, Andreas, Mühlbacher, Moritz, Müller, Matthias J., Nieratschker, Vanessa, Nierste, Barbara, Ohle, Jacqueline, Pfennig, Andrea, Pieper, Marlenna, Quade, Matthias, Reich-Erkelenz, Daniela, Reif, Andreas, Reitt, Markus, Reininghaus, Bernd, Reininghaus, Eva Z., Riemenschneider, Matthias, Rienhoff, Otto, Roser, Patrik, Rujescu, Dan, Schennach, Rebecca, Scherk, Harald, Schmauss, Max, Schneider, Frank, Schosser, Alexandra, Schott, Björn H., Schwab, Sybille G., Schwanke, Jens, Skrowny, Daniela, Spitzer, Carsten, Stierl, Sebastian, Stöckel, Judith, Stübner, Susanne, Thiel, Andreas, Volz, Hans-Peter, von Hagen, Martin, Walter, Henrik, Witt, Stephanie H., Wobrock, Thomas, Zielasek, Jürgen, Zimmermann, Jörg, Zitzelsberger, Antje, Maier, Wolfgang, Falkai, Peter G., Rietschel, Marcella, and Schulze, Thomas G.
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- 2013
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6. Exploration of Shared Genetic Architecture Between Subcortical Brain Volumes and Anorexia Nervosa
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Walton, E, Hibar, D, Yilmaz, Z, Jahanshad, N, Cheung, J, Batury, V-L, Seitz, J, Bulik, CM, Thompson, PM, Ehrlich, Stefan, Hibar, Derrek P, Stein, Jason L, Renteria, Miguel E, Arias-Vasquez, Alejandro, Desrivieres, Sylvane, Jahanshad, Neda, Toro, Roberto, Wittfeld, Katharina, Abramovic, Lucija, Andersson, Micael, Aribisala, Benjamin S, Armstrong, Nicola J, Bernard, Manon, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brown, Andrew A, Chakravarty, M Mallar, Chen, Qiang, Ching, Christopher RK, Cuellar-Partida, Gabriel, Den Braber, Anouk, Giddaluru, Sudheer, Goldman, Aaron L, Grimm, Oliver, Guadalupe, Tulio, Hass, Johanna, Woldehawariat, Girma, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Loohuis, Loes M Olde, Luciano, Michelle, Macare, Christine, Mather, Karen A, Mattheisen, Manuel, Milaneschi, Yuri, Nho, Kwangsik, Papmeyer, Martina, Ramasamy, Adaikalavan, Risacher, Shannon L, Roiz-Santianez, Roberto, Rose, Emma J, Salami, Alireza, Samann, Philipp G, Schmaal, Lianne, Schork, Andrew J, Shin, Jean, Strike, Lachlan T, Teumer, Alexander, van Donkelaar, Marjolein MJ, van Eijk, Kristel R, Walters, Raymond K, Westlye, Lars T, Whelan, Christopher D, Winkler, Anderson M, Zwiers, Marcel P, Alhusaini, Saud, Athanasiu, Lavinia, Hakobjan, Marina MH, Hartberg, Cecilie B, Haukvik, Unn K, Heister, Angelien JGAM, Hohn, David, Kasperaviciute, Dalia, Liewald, David CM, Lopez, Lorna M, Makkinje, Remco RR, Matarin, Mar, Naber, Marlies AM, Mckay, David R, Needham, Margaret, Nugent, Allison C, Putz, Benno, Shen, Li, Sprooten, Emma, Trabzuni, Daniah, van der Marel, Saskia SL, van Hulzen, Kimm JE, Walton, Esther, Wolf, Christiane, Almasy, Laura, Ames, David, Arepalli, Sampath, Assareh, Amelia A, Bastin, Mark E, Brodaty, Henry, Bulayeva, Kazima B, Carless, Melanie A, Cichon, Sven, Corvin, Aiden, Curran, Joanne E, Czisch, Michael, de Zubicaray, Greig I, Dillman, Allissa, Duggirala, Ravi, Dyer, Thomas D, Erk, Susanne, Fedko, Iryna O, Ferrucci, Luigi, Foroud, Tatiana M, Fox, Peter T, Fukunaga, Masaki, Gibbs, J Raphael, Goring, Harald HH, Green, Robert C, Guelfi, Sebastian, Hansell, Narelle K, Hartman, Catharina A, Hegenscheid, Katrin, Heinz, Andreas, Hernandez, Dena G, Heslenfeld, Dirk J, Hoekstra, Pieter J, Holsboer, Florian, Homuth, Georg, Hottenga, Jouke-Jan, Ikeda, Masashi, Jr, Jack Clifford R, Jenkinson, Mark, Johnson, Robert, Kanai, Ryota, Keil, Maria, Jr, Kent Jack W, Kochunov, Peter, Kwok, John B, Lawrie, Stephen M, Liu, Xinmin, Longo, Dan L, McMahon, Katie L, Meisenzahl, Eva, Melle, Ingrid, Mohnke, Sebastian, Montgomery, Grant W, Mostert, Jeanette C, Muhleisen, Thomas W, Nalls, Michael A, Nichols, Thomas E, Nilsson, Lars G, Nothen, Markus M, Ohi, Kazutaka, Olvera, Rene L, Perez-Iglesias, Rocio, Pike, G Bruce, Potkin, Steven G, Reinvang, Ivar, Reppermund, Simone, Rietschel, Marcella, Romanczuk-Seiferth, Nina, Rosen, Glenn D, Rujescu, Dan, Schnell, Knut, Schofield, Peter R, Smith, Colin, Steen, Vidar M, Sussmann, Jessika E, Thalamuthu, Anbupalam, Toga, Arthur W, Traynor, Bryan J, Troncoso, Juan, Turner, Jessica A, Hernandez, Maria C Valdes, van't Ent, Dennis, van der Brug, Marcel, van der Wee, Nic JA, van Tol, Marie-Jose, Veltman, Dick J, Wassink, Thomas H, Westman, Eric, Zielke, Ronald H, Zonderman, Alan B, Ashbrook, David G, Hager, Reinmar, Lu, Lu, McMahon, Francis J, Morris, Derek W, Williams, Robert W, Brunner, Han G, Buckner, Randy L, Buitelaar, Jan K, Cahn, Wiepke, Calhoun, Vince D, Cavalleri, Gianpiero L, Crespo-Facorro, Benedicto, Dale, Anders M, Davies, Gareth E, Delanty, Norman, Depondt, Chantal, Djurovic, Srdjan, Drevets, Wayne C, Espeseth, Thomas, Gollub, Randy L, Ho, Beng-Choon, Hoffmann, Wolfgang, Hosten, Norbert, Kahn, Rene S, Le Hellard, Stephanie, Meyer-Lindenberg, Andreas, Mueller-Myhsok, Bertram, Nauck, Matthias, Nyberg, Lars, Pandolfo, Massimo, Penninx, Brenda WJH, Roffman, Joshua L, Sisodiya, Sanjay M, Smoller, Jordan W, van Bokhoven, Hans, van Haren, Neeltje EM, Volzke, Henry, Walter, Henrik, Weiner, Michael W, Wen, Wei, White, Tonya, Agartz, Ingrid, Andreassen, Ole A, Blangero, John, Boomsma, Dorret I, Brouwer, Rachel M, Cannon, Dara M, Cookson, Mark R, de Geus, Eco JC, Deary, Ian J, Donohoe, Gary, Fernandez, Guillen, Fisher, Simon E, Francks, Clyde, Glahn, David C, Grabe, Hans J, Gruber, Oliver, Hardy, John, Hashimoto, Ryota, Pol, Hilleke E Hulshoff, Jonsson, Erik G, Kloszewska, Iwona, Lovestone, Simon, Mattay, Venkata S, Mecocci, Patrizia, McDonald, Colm, McIntosh, Andrew M, Ophoff, Roel A, Paus, Tomas, Pausova, Zdenka, Ryten, Mina, Sachdev, Perminder S, Saykin, Andrew J, Simmons, Andrew, Singleton, Andrew, Soininen, Hilkka, Wardlaw, Joanna M, Weale, Michael E, Weinberger, Daniel R, Adams, Hieab HH, Launer, Lenore J, Seiler, Stephan, Schmidt, Reinhold, Chauhan, Ganesh, Satizabal, Claudia L, Becker, James T, Yanek, Lisa R, van der Lee, Sven J, Ebling, Maritza, Fischl, Bruce, Longstreth, WT, Greve, Douglas, Schmidt, Helena, Nyquist, Paul, Vinke, Louis N, van Duijn, Cornelia M, Luting, Xue, Mazoyer, Bernard, Bis, Joshua C, Gudnason, Vilmundur, Seshadri, Sudha, Ikram, M Arfan, Martin, Nicholas G, Wright, Margaret J, Schumann, Gunter, Franke, Barbara, Thompson, Paul M, Medland, Sarah E, Duncan, Laramie, Yilmaz, Zeynep, Walters, Raymond, Goldstein, Jackie, Anttila, Verneri, Bulik-Sullivan, Brendan, Ripke, Stephan, Adan, Roger, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole, Aschauer, Harald, Baker, Jessica, Barrett, Jeffrey, Bencko, Vladimir, Bergen, Andrew, Berrettini, Wade, Birgegard, Andreas, Boni, Claudette, Perica, Vesna Boraska, Brandt, Harry, Burghardt, Roland, Carlberg, Laura, Cassina, Matteo, Cichon, Carolyn Cesta Sven, Clementi, Maurizio, Cohen-Woods, Sarah, Coleman, Joni, Cone, Roger, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, Jim, Danner, Unna, Davis, Oliver, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece, Dick, Danielle, Dikeos, Dimitris, Dina, Christian, Ding, Bo, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Egberts, Karin, Escaramis, Georgia, Esko, Tonu, Estivill, Xavier, Favaro, Angela, Fernandez-Aranda, Fernando, Fichter, Manfred, Finan, Chris, Fischer, Krista, Floyd, James, Focker, Manuel, Foretova, Lenka, Forzan, Monica, Fox, Caroline, Franklin, Christopher, Gallinger, Valerie Gaborieau Steven, Gambaro, Giovanni, Gaspar, Helena, Giegling, Ina, Gonidakis, Fragiskos, Gorwood, Philip, Gratacos, Monica, Guillaume, Sebastien, Guo, Yiran, Hakonarson, Hakon, Halmi, Katherine, Harrison, Rebecca, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske, Hendriks, Judith, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hilliard, Christopher, Huckins, Laura, Hudson, James, Huemer, Julia, Imgart, Hartmut, Inoko, Hidetoshi, Jamain, Sigrid Jall Stephane, Janout, Vladimir, Jimenez-Murcia, Susana, Johnson, Craig, Jordan, Jenny, Julia, Antonio, Jureus, Anders, Kalsi, Gursharan, Kaplan, Allan, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andreas, Kas, Martien, Kaye, Walter, Kennedy, Martin, Kennedy, James, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl-Ri, Klareskog, Lars, Klump, Kelly, Knudsen, Gun Peggy, Koeleman, Bobby, Koubek, Doris, La Via, Maria, Landen, Mikael, Leboyer, Marion, Levitan, Robert, Li, Dong, Lichtenstein, Paul, Lilenfeld, Lisa, Lissowska, Jolanta, Lundervold, Astri, Magistretti, Pierre, Maj, Mario, Mannik, Katrin, Marsal, Sara, Kaminska, Debora, Martin, Nicholas, Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Merl, Elisabeth, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, James, Mitchell, Karen, Monteleone, Palmiero, Monteleone, Alessio Maria, Montgomery, Grant, Mortensen, Preben, Munn-Chernoff, Melissa, Mueller, Timo, Nacmias, Benedetta, Navratilova, Marie, Nilsson, Ida, Norring, Claes, Ntalla, Ioanna, Ophoff, Roel, O'Toole, Julie, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Pinto, Richard Parker Dalila, Rabionet, Raquel, Raevuori, Anu, Rajewski, Andrzej, Ramoz, Nicolas, Rayner, N William, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rybakowski, Filip, Santonastaso, Paolo, Scherag, Andre, Scherer, Stephen, Schmidt, Ulrike, Schork, Nicholas, Schosser, Alexandra, Scott, Laura, Seitz, Jochen, Slachtova, Lenka, Sladek, Robert, Slagboom, P Eline, Slof-Op't Landt, Margarita, Slopien, Agnieszka, Smith, Tosha, Soranzo, Nicole, Sorbi, Sandro, Southam, Lorraine, Steen, Vidar, Strengman, Eric, Strober, Michael, Szatkiewicz, Jin, Szeszenia-Dabrowska, Neonila, Tachmazidou, Ioanna, Tenconi, Elena, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tschop, Matthias, Tsitsika, Artemis, Tziouvas, Konstantinos, van Elburg, Annemarie, van Furth, Eric, Wade, Tracey, Wagner, Gudrun, Watson, Hunna, Wichmann, H-Erich, Widen, Elisabeth, Woodside, D Blake, Yanovski, Jack, Yao, Shuyang, Zerwas, Stephanie, Zipfel, Stephan, Thornton, Laura, Hinney, Anke, Breen, Gerome, Bulik, Cynthia M, PGC-ED, Grp, ENIGMA Genetics Working, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Kas lab, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, and APH - Mental Health
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0301 basic medicine ,Anorexia Nervosa ,Eating Disorders ,REWARD CIRCUITRY ,Genome-wide association study ,ADOLESCENT ,PGC-ED ,Bioinformatics ,Linkage Disequilibrium ,0302 clinical medicine ,Anorexia nervosa ,Brain structure ,Genetic correlation ,SCHIZOPHRENIA ,ENIGMA Genetics Working Group ,2.1 Biological and endogenous factors ,Psychology ,Aetiology ,Cervell ,RISK ,ABNORMALITIES ,Anorèxia nerviosa ,Brain ,FUNCTIONAL CONNECTIVITY ,Organ Size ,Single Nucleotide ,Serious Mental Illness ,Magnetic Resonance Imaging ,3. Good health ,Anorexia ,Mental Health ,Neurology ,Anorexia nervosa (differential diagnoses) ,Brain size ,MENDELIAN RANDOMIZATION ,Biomedical Imaging ,Cognitive Sciences ,RESPONSE-INHIBITION ,Neuroscience (miscellaneous) ,Biology ,Polymorphism, Single Nucleotide ,Article ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Mendelian randomization ,Journal Article ,Genetics ,Humans ,Genetic Testing ,GENOME-WIDE ASSOCIATION ,Polymorphism ,POLYMORPHISMS ,Genetic association ,Neurology & Neurosurgery ,Prevention ,Human Genome ,Neurosciences ,Mendelian Randomization Analysis ,Genetic architecture ,Brain Disorders ,030104 developmental biology ,Genetic marker ,Case-Control Studies ,030217 neurology & neurosurgery ,Genètica ,Genome-Wide Association Study - Abstract
Molecular neurobiology 56(7), 5146-5156 (2019). doi:10.1007/s12035-018-1439-4, Published by Humana Press, Totowa, NJ
- Published
- 2019
7. Significant locus and metabolic genetic correlations revealed in genome-wide association study of anorexia nervosa
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Duncan, Laramie, Yilmaz, Zeynep, Gaspar, Helena, Walters, Raymond, Goldstein, Jackie, Anttila, Verneri, Bulik-Sullivan, Brendan, Ripke, Stephan, Thornton, Laura, Hinney, Anke, Daly, Mark, Sullivan, Patrick F., Zeggini, Eleftheria, Breen, Gerome, Bulik, Cynthia M., Gaspar, Héléna, Adan, Roger, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole, Aschauer, Harald, Baker, Jessica, Barrett, Jeffrey, Bencko, Vladimir, Bergen, Andrew, Berrettini, Wade, Birgegård, Andreas, Boni, Claudette, Perica, Vesna Boraska, Brandt, Harry, Burghardt, Roland, Carlberg, Laura, Cassina, Matteo, Cesta, Carolyn, Cichon, Sven, Clementi, Maurizio, Cohen-Woods, Sarah, Coleman, Joni, Cone, Roger, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, Jim, Danner, Unna, Davis, Oliver, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, Desocio, Janiece, Danielle, Dick, Dikeos, Dimitris, Dina, Christian, Ding, Bo, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Espeseth, Thomas, Estivill, Xavier, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred, Finan, Chris, Fischer, Krista, Floyd, James, Föcker, Manuel, Foretova, Lenka, Forzan, Monica, Fox, Caroline, Franklin, Christopher, Gaborieau, Valerie, Gallinger, Steven, Gambaro, Giovanni, Giegling, Ina, Gonidakis, Fragiskos, Gorwood, Philip, Gratacos, Monica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Halmi, Katherine, Harrison, Rebecca, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske, Hendriks, Judith, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hilliard, Christopher, Huckins, Laura, Hudson, James, Huemer, Julia, Imgart, Hartmut, Inoko, Hidetoshi, Jall, Sigrid, Jamain, Stephane, Janout, Vladimir, Jiménez-Murcia, Susana, Johnson, Craig, Jordan, Jenny, Julià, Antonio, Juréus, Anders, Kalsi, Gursharan, Kaplan, Allan, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andreas, Kas, Martien, Kaye, Walter, Kennedy, Martin, Kennedy, James, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl-Ri, Klareskog, Lars, Klump, Kelly, Knudsen, Gun Peggy, Koeleman, Bobby, Koubek, Doris, La Via, Maria, Landén, Mikael, Le Hellard, Stephanie, Leboyer, Marion, Levitan, Robert, Dong, Li, Lichtenstein, Paul, Lilenfeld, Lisa, Lissowska, Jolanta, Lundervold, Astri, Magistretti, Pierre, Maj, Mario, Mannik, Katrin, Marsal, Sara, Kaminska, Debora, Martin, Nicholas, Mattingsdal, Morten, Mcdevitt, Sara, Mcguffin, Peter, Merl, Elisabeth, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, James, Mitchell, Karen, Monteleone, Palmiero, Monteleone, Alessio Maria, Montgomery, Grant, Mortensen, Preben, Munn-Chernoff, Melissa, Müller, Timo, Nacmias, Benedetta, Navratilova, Marie, Nilsson, Ida, Norring, Claes, Ntalla, Ioanna, Ophoff, Roel, O’Toole, Julie, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Parker, Richard, Pinto, Dalila, Rabionet, Raquel, Raevuori, Anu, Rajewski, Andrzej, Ramoz, Nicolas, William Rayner, N., Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen, Schmidt, Ulrike, Schork, Nicholas, Schosser, Alexandra, Scott, Laura, Seitz, Jochen, Slachtova, Lenka, Sladek, Robert, Eline Slagboom, P., Slof-Op ’t Landt, Margarita, Slopien, Agnieszka, Smith, Tosha, Soranzo, Nicole, Sorbi, Sandro, Southam, Lorraine, Steen, Vidar, Strengman, Eric, Strober, Michael, Szatkiewicz, Jin, Szeszenia-Dabrowska, Neonila, Tachmazidou, Ioanna, Tenconi, Elena, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tschöp, Matthias, Tsitsika, Artemis, Tziouvas, Konstantinos, van Elburg, Annemarie, van Furth, Eric, Wade, Tracey, Wagner, Gudrun, Walton, Esther, Watson, Hunna, Wichmann, H-Erich, Widen, Elisabeth, Woodside, Blake, Yanovski, Jack, Yao, Shuyang, Zerwas, Stephanie, Zipfel, Stephan, Duncan, Laramie, Yilmaz, Zeynep, Gaspar, Helena, Walters, Raymond, Goldstein, Jackie, Anttila, Verneri, Bulik-Sullivan, Brendan, Ripke, Stephan, Thornton, Laura, Hinney, Anke, Daly, Mark, Sullivan, Patrick F., Zeggini, Eleftheria, Breen, Gerome, Bulik, Cynthia M., Gaspar, Hã©lã©na, Adan, Roger, Alfredsson, Lar, Ando, Tetsuya, Andreassen, Ole, Aschauer, Harald, Baker, Jessica, Barrett, Jeffrey, Bencko, Vladimir, Bergen, Andrew, Berrettini, Wade, Birgegã¥rd, Andrea, Boni, Claudette, Perica, Vesna Boraska, Brandt, Harry, Burghardt, Roland, Carlberg, Laura, Cassina, Matteo, Cesta, Carolyn, Cichon, Sven, Clementi, Maurizio, Cohen-Woods, Sarah, Coleman, Joni, Cone, Roger, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, Jim, Danner, Unna, Davis, Oliver, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, Desocio, Janiece, Danielle, Dick, Dikeos, Dimitri, Dina, Christian, Ding, Bo, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Egberts, Karin, Ehrlich, Stefan, Escaramãs, Geã²rgia, Esko, Tãµnu, Espeseth, Thoma, Estivill, Xavier, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred, Finan, Chri, Fischer, Krista, Floyd, Jame, Fã¶cker, Manuel, Foretova, Lenka, Forzan, Monica, Fox, Caroline, Franklin, Christopher, Gaborieau, Valerie, Gallinger, Steven, Gambaro, Giovanni, Giegling, Ina, Gonidakis, Fragisko, Gorwood, Philip, Gratacos, Monica, Guillaume, Sã©bastien, Guo, Yiran, Hakonarson, Hakon, Halmi, Katherine, Harrison, Rebecca, Hatzikotoulas, Konstantino, Hauser, Joanna, Hebebrand, Johanne, Helder, Sietske, Hendriks, Judith, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hilliard, Christopher, Huckins, Laura, Hudson, Jame, Huemer, Julia, Imgart, Hartmut, Inoko, Hidetoshi, Jall, Sigrid, Jamain, Stephane, Janout, Vladimir, Jiménez-Murcia, Susana, Johnson, Craig, Jordan, Jenny, Juliã , Antonio, Jurã©us, Ander, Kalsi, Gursharan, Kaplan, Allan, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andrea, Kas, Martien, Kaye, Walter, Kennedy, Martin, Kennedy, Jame, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl-Ri, Klareskog, Lar, Klump, Kelly, Knudsen, Gun Peggy, Koeleman, Bobby, Koubek, Dori, La Via, Maria, Landã©n, Mikael, Le Hellard, Stephanie, Leboyer, Marion, Levitan, Robert, Li, Dong, Lichtenstein, Paul, Lilenfeld, Lisa, Lissowska, Jolanta, Lundervold, Astri, Magistretti, Pierre, Maj, Mario, Mannik, Katrin, Marsal, Sara, Kaminska, Debora, Martin, Nichola, Mattingsdal, Morten, Mcdevitt, Sara, Mcguffin, Peter, Merl, Elisabeth, Metspalu, Andre, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Jame, Mitchell, Karen, Monteleone, Palmiero, Monteleone, Alessio Maria, Montgomery, Grant, Mortensen, Preben, Munn-Chernoff, Melissa, Mã¼ller, Timo, Nacmias, Benedetta, Navratilova, Marie, Nilsson, Ida, Norring, Clae, Ntalla, Ioanna, Ophoff, Roel, Oâ toole, Julie, Palotie, Aarno, Pantel, Jacque, Papezova, Hana, Parker, Richard, Pinto, Dalila, Rabionet, Raquel, Raevuori, Anu, Rajewski, Andrzej, Ramoz, Nicola, William Rayner, N., Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, Andrã©, Scherer, Stephen, Schmidt, Ulrike, Schork, Nichola, Schosser, Alexandra, Scott, Laura, Seitz, Jochen, Slachtova, Lenka, Sladek, Robert, Eline Slagboom, P., Slof-Op â t Landt, Margarita, Slopien, Agnieszka, Smith, Tosha, Soranzo, Nicole, Sorbi, Sandro, Southam, Lorraine, Steen, Vidar, Strengman, Eric, Strober, Michael, Szatkiewicz, Jin, Szeszenia-Dabrowska, Neonila, Tachmazidou, Ioanna, Tenconi, Elena, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tschã¶p, Matthia, Tsitsika, Artemi, Tziouvas, Konstantino, van Elburg, Annemarie, van Furth, Eric, Wade, Tracey, Wagner, Gudrun, Walton, Esther, Watson, Hunna, Wichmann, H-Erich, Widen, Elisabeth, Woodside, Blake, Yanovski, Jack, Yao, Shuyang, Zerwas, Stephanie, Zipfel, Stephan, Universitat de Barcelona, and Kas lab
- Subjects
0301 basic medicine ,Linkage disequilibrium ,Anorexia Nervosa ,Eating Disorders ,Medizin ,Genome-wide association study ,Diabete ,Linkage Disequilibrium ,Diabetes ,GWAS ,Genetics ,Metabolism ,Case-Control Studies ,Genetic Predisposition to Disease ,Humans ,Phenotype ,Polymorphism, Single Nucleotide ,Genome-Wide Association Study ,Psychiatry and Mental Health ,0302 clinical medicine ,Anorexia Nervosa/genetics ,SCHIZOPHRENIA ,Gwas ,RISK ,Genetic Predisposition to Disease/genetics ,PSYCHIATRIC-DISORDERS ,Anorèxia nerviosa ,Eating Disorder ,Single Nucleotide ,Polymorphism, Single Nucleotide/genetics ,Metabolisme ,Psychiatry and Mental health ,Psychology ,Case-Control Studie ,TRAITS ,Human ,Polymorphism ,Single-nucleotide polymorphism ,behavioral disciplines and activities ,Article ,Feeding and Eating Disorders ,03 medical and health sciences ,Genetic ,mental disorders ,Journal Article ,Linkage Disequilibrium/genetics ,1000 Genomes Project ,Bulimia Nervosa ,METAANALYSIS ,Genetic association ,EATING-DISORDERS ,Settore MED/13 - ENDOCRINOLOGIA ,Anorexia nervosa ,Heritability ,Minor allele frequency ,030104 developmental biology ,UPDATE ,030217 neurology & neurosurgery ,Imputation (genetics) ,Genètica ,Meta-Analysis - Abstract
Objective: The authors conducted a genome-wide association study of anorexia nervosa and calculated genetic correlations with a series of psychiatric, educational, and metabolic phenotypes. Method: Following uniformquality control and imputation procedures using the 1000 Genomes Project (phase 3) in 12 case-control cohorts comprising 3, 495 anorexia nervosa cases and 10, 982 controls, the authors performed standard association analysis followed by a meta-analysis across cohorts. Linkage disequilibrium score regression was used to calculate genome-wide common variant heritability (single-nucleotide polymorphism [SNP]-based heritability [h2 SNP]), partitioned heritability, and genetic correlations (rg) between anorexia nervosa and 159 other phenotypes. Results: Results were obtained for 10, 641, 224 SNPs and insertion-deletion variants with minor allele frequencies.>1% and imputation quality scores >0.6. The h2 SNP of anorexia nervosa was 0.20 (SE=0.02), suggesting that a substantial fraction of the twin-based heritability arises from common genetic variation. The authors identified one genome-wide significant locus on chromosome 12 (rs4622308) in a region harboring a previously reported type 1 diabetes and autoimmune disorder locus. Significant positive genetic correlations were observed between anorexia nervosa and schizophrenia, neuroticism, educational attainment, and high-density lipoprotein cholesterol, and significant negative genetic correlations were observed between anorexia nervosa and body mass index, insulin, glucose, and lipid phenotypes. Conclusions: Anorexia nervosa is a complex heritable phenotype for which this study has uncovered the first genomewide significant locus. Anorexia nervosa also has large and significant genetic correlations with both psychiatric phenotypes and metabolic traits. The study results encourage a reconceptualization of this frequently lethal disorder as one with both psychiatric and metabolic etiology.
- Published
- 2017
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