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A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

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العنوان: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling
المؤلفون: Dong, Li, Chang, Xiao, Connolly, John J., Tian, Lifeng, Liu, Yichuan, Bhoj, Elizabeth J., Robinson, Nora, Abrams, Debra, Yun R., Li, Bradfield, Jonathan P., Kim, Cecilia E., Jin, Li, 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, Bingshan, Li, Sleiman, Patrick A., Hakonarson, Hakon, Perica, Vesna Boraska, Franklin, Christopher S., Floyd, James A. B., Thornton, Laura M., Huckins, Laura M., Southam, Lorraine, Rayner, N. William, Tachmazidou, Ioanna, 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, Furth, Eric F. Van, Slof Opt Landt, Margarita C. T., Hudson, James I., Reichborn Kjennerud, Ted, Knudsen, Gun Peggy S., Monteleone, Palmiero, Karwautz, Andreas, Berrettini, Wade H., Schork, Nicholas J., Ando, Tetsuya, Inoko, Hidetoshi, Esko, Toã±u, Fischer, Krista, Mã¤nnik, 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, Bã¼hren, Katharina, Burghardt, Roland, De Zwaan, Martina, Egberts, Karin, Ehrlich, Stefan, Herpertz Dahlmann, Beate, Herzog, Wolfgang, Imgart, Hartmut, Scherag, Andrã, 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, Escaramã­s, Geã²rgia, Jiménez Murcia, Susana, Lissowska, Jolanta, Rajewski, Andrzej, Szeszenia Dabrowska, Neonila, Slopien, Agnieszka, Hauser, Joanna, Karhunen, Leila, Meulenbelt, Ingrid, Slagboom, P. Eline, Tortorella, Alfonso Antonio Vincenzo, 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, Widã©n, 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, Kaplan, Allan S., La Via, Maria C., Mitchell, James, Strober, Michael, Rotondo, Alessandro, Treasure, Janet, Woodside, D. Blake, Keel, Pamela K., Klump, Kelly L., Lilenfeld, Lisa, Bergen, Andrew W., Kaye, Walter, Magistretti, Pierre
المساهمون: Universitat de Barcelona, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Department of Public Health, Clinicum, Samuli Olli Ripatti / Principal Investigator, Biostatistics Helsinki, HUS Children and Adolescents, Complex Disease Genetics, Genomics of Neurological and Neuropsychiatric Disorders, Genetic Epidemiology, Kas lab, School of Medicine / Clinical Nutrition, 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, Jame, 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., Hakonarson, Hakon, Perica, Vesna Boraska, Franklin, Christopher S., Floyd, James A. B., Thornton, Laura M., Huckins, Laura M., Southam, Lorraine, Rayner, N. William, Tachmazidou, Ioanna, Schmidt, Ulrike, Tozzi, Federica, Kiezebrink, Kirsty, Hebebrand, Johanne, 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, Furth, Eric F. Van, Slof-Opt Landt, Margarita C. T., Hudson, James I., Reichborn-Kjennerud, Ted, Knudsen, Gun Peggy S., Monteleone, Palmiero, Karwautz, Andrea, Berrettini, Wade H., Schork, Nicholas J., Ando, Tetsuya, Inoko, Hidetoshi, Esko, Toã±u, Fischer, Krista, Mã¤nnik, Katrin, Metspalu, Andre, Baker, Jessica H., Desocio, Janiece E., Hilliard, Christopher E., O'Toole, Julie K., Pantel, Jacque, Szatkiewicz, Jin P., Zerwas, Stephanie, Davis, Oliver S. P., Helder, Sietske, Bã¼hren, Katharina, Burghardt, Roland, De Zwaan, Martina, Egberts, Karin, Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Imgart, Hartmut, Scherag, Andrã©, Zipfel, Stephan, Boni, Claudette, Ramoz, Nicola, 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, Escaramã­s, Geã²rgia, 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, Dimitri, Gonidakis, Fragisko, Tziouvas, Konstantino, Tsitsika, Artemi, Papezova, Hana, Slachtova, Lenka, Martaskova, Debora, Kennedy, James L., Levitan, Robert D., Yilmaz, Zeynep, Huemer, Julia, Koubek, Dori, 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, Widã©n, Elisabeth, Andreassen, Ole A., Espeseth, Thoma, 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, Lar, Ding, Bo, Klareskog, Lar, Padyukov, Leonid, Finan, Chri, 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, Kaplan, Allan S., La Via, Maria C., Mitchell, Jame, Strober, Michael, Rotondo, Alessandro, Treasure, Janet, Woodside, D. Blake, Keel, Pamela K., Klump, Kelly L., Lilenfeld, Lisa, Bergen, Andrew W., Kaye, Walter, Magistretti, Pierre, Guo, Yiran [0000-0002-6549-8589], Apollo - University of Cambridge Repository
المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Scientific Reports, Vol 7, Iss 1, Pp 1-8 (2017)
Scientific Reports, 7(1):3847. Nature Publishing Group
Scientific reports, vol 7, iss 1
Scientific Reports
Dipòsit Digital de la UB
Universidad de Barcelona
Scientific Reports, 7(1). NLM (Medline)
Scientific Reports, 7(1). Nature Publishing Group
Li, D, Chang, X, Hakonarson, H 2017, ' A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling ', Scientific Reports, vol. 7, 3847 . https://doi.org/10.1038/s41598-017-01674-8, https://doi.org/10.1038/s41598-017-06409-3
بيانات النشر: Nature Publishing Group
مصطلحات موضوعية: 0301 basic medicine, Leptin signaling, Eating Disorders, Medizin, Genome-wide association study, CHILDREN, VARIANTS, Bioinformatics, 3124 Neurology and psychiatry, 0302 clinical medicine, B-CELL-FACTOR, Eating Disorders Working Group of the Psychiatric Genomics Consortium, 2.1 Biological and endogenous factors, Aetiology, Genetics, Multidisciplinary, Anorèxia nerviosa, Genomics, Phenotype, Price Foundation Collaborative Group, 3142 Public health care science, environmental and occupational health, Anorexia, Eating disorders, Mental Health, Behavioural genetics, Medicine, Erratum, GENETICS, Science, Locus (genetics), Single-nucleotide polymorphism, Biology, PRESSURE, PARAMETERS, 03 medical and health sciences, medicine, Journal Article, General, EBF1, Prevention, Human Genome, EATING-DISORDERS, Settore MED/13 - ENDOCRINOLOGIA, OBSESSIVE-COMPULSIVE DISORDER, Anorexia nervosa, medicine.disease, Confidence interval, 030227 psychiatry, Genòmica, 030104 developmental biology, Risk factors
الوصف: We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 × 10−7; OR = 0.7; 95% confidence interval (CI) = 0.61–0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation.
published version
peerReviewed
وصف الملف: application/pdf; image/pdf
تدمد: 2045-2322
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5c332e815dd372043fff40715b8c78a
http://hdl.handle.net/10230/35206
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....f5c332e815dd372043fff40715b8c78a
قاعدة البيانات: OpenAIRE
الوصف
تدمد:20452322