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2. Discussion on the Meeting on 'Statistical Modelling and Analysis of Genetic Data'

Author

Balding, David J., Carothers, Andrew D., Marchini, Jonathan L., Cardon, Lon R., Vetta, Atam, Griffiths, Bob, Weir, B. S., Hill, W. G., Goldstein, Darlene, Strimmer, Korbinian, Myers, Simon, Beaumont, Mark A., Glasbey, C. A., Mayer, C. D., Durrett, Richard, Nielsen, Rasmus, Visscher, P. M., Knott, S. A., Haley, C. S., Ball, Roderick D., Hackett, Christine A., Holmes, Susan, Husmeier, Dirk, Jansen, Ritsert C., Maliepaard, Chris A., Boer, Martin P., Joyce, Paul, Li, Na, Stephens, Matthew, Marcoulides, George A., Drezner, Zvi, Mardia, Kanti, McVean, Gilean, Meng, Xiao-Li, Ochs, Michael F., Pagel, Mark, Sha, Naijun, Vannucci, Marina, Sillanpää, Mikko J., Sisson, Scott, Yandell, Brian S., Jin, Chunfang, Satagopan, Jaya M., Gaffney, Patrick J., Zeng, Zhao-Bang, Broman, Karl W., Speed, Terence P., Fearnhead, Paul, Donnelly, Peter, Larget, Bret, Simon, Donald L., Kadane, Joseph B., Nicholson, George, Smith, Albert V., Jónsson, Frosti, Gústafsson, Ómar, Stefánsson, Kárl, Donnelly, Peter, Parmigiani, Giovanni, Garrett, Elizabeth S., Anbazhagan, Ramaswamy, and Gabrielson, Edward

Published
2002

5. Replication Study and Meta-Analysis in European Samples Supports Association of the 3p21.1 Locus with Bipolar Disorder

Author

Vassos, Evangelos, Steinberg, Stacy, Cichon, Sven, Breen, Gerome, Sigurdsson, Engilbert, Andreassen, Ole A., Djurovic, Srdjan, Morken, Gunnar, Grigoroiu-Serbanescu, Maria, Diaconu, Carmen C., Czerski, Piotr M., Hauser, Joanna, Babadjanova, Gulja, Abramova, Lilia I., Mühleisen, Thomas W., Nöthen, Markus M., Rietschel, Marcella, McGuffin, Peter, St. Clair, David, Gustafsson, Omar, Melle, Ingrid, Pietiläinen, Olli P.H., Ruggeri, Mirella, Tosato, Sarah, Werge, Thomas, Ophoff, Roel A., Rujescu, Dan, Børglum, Anders D., Mors, Ole, Mortensen, Preben B., Demontis, Ditte, Hollegaard, Mads V., van Winkel, Ruud, Kenis, Gunter, De Hert, Marc, Réthelyi, János M., Bitter, István, Rubino, I. Alex, Golimbet, Vera, Kiemeney, Lambertus A., van den Berg, Leonard H., Franke, Barbara, Jönsson, Erik G., Farmer, Anne, Stefansson, Hreinn, Stefansson, Kari, and Collier, David A.

Published
2012
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6. At-Risk Variant in TCF7L2 for Type II Diabetes Increases Risk of Schizophrenia

Author

Hansen, Thomas, Ingason, Andrés, Djurovic, Srdjan, Melle, Ingrid, Fenger, Mogens, Gustafsson, Omar, Jakobsen, Klaus D., Rasmussen, Henrik B., Tosato, Sarah, Rietschel, Marcella, Frank, Josef, Owen, Mike, Bonetto, Chiara, Suvisaari, Jaana, Thygesen, Johan Hilge, Pétursson, Hannes, Lönnqvist, Jouko, Sigurdsson, Engilbert, Giegling, Ina, Craddock, Nick, O'Donovan, Michael C., Ruggeri, Mirella, Cichon, Sven, Ophoff, Roel A., Pietiläinen, Olli, Peltonen, Leena, Nöthen, Markus M., Rujescu, Dan, St. Clair, David, Collier, David A., Andreassen, Ole A., and Werge, Thomas

Published
2011
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7. Candidate Gene Analysis of the Human Natural Killer-1 Carbohydrate Pathway and Perineuronal Nets in Schizophrenia: B3GAT2 Is Associated with Disease Risk and Cortical Surface Area

Author

Kähler, Anna K., Djurovic, Srdjan, Rimol, Lars M., Brown, Andrew Anand, Athanasiu, Lavinia, Jönsson, Erik G., Hansen, Thomas, Gústafsson, Ómar, Hall, Håkan, Giegling, Ina, Muglia, Pierandrea, Cichon, Sven, Rietschel, Marcella, Pietiläinen, Olli P.H., Peltonen, Leena, Bramon, Elvira, Collier, David, Clair, David St., Sigurdsson, Engilbert, Petursson, Hannes, Rujescu, Dan, Melle, Ingrid, Werge, Thomas, Steen, Vidar M., Dale, Anders M., Matthews, Russell T., Agartz, Ingrid, and Andreassen, Ole A.

Published
2011
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9. Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort

Author

Athanasiu, Lavinia, Mattingsdal, Morten, Kähler, Anna K., Brown, Andrew, Gustafsson, Omar, Agartz, Ingrid, Giegling, Ina, Muglia, Pierandrea, Cichon, Sven, Rietschel, Marcella, Pietiläinen, Olli P.H., Peltonen, Leena, Bramon, Elvira, Collier, David, Clair, David St., Sigurdsson, Engilbert, Petursson, Hannes, Rujescu, Dan, Melle, Ingrid, Steen, Vidar M., Djurovic, Srdjan, and Andreassen, Ole A.

Published
2010
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10. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

Author

Klebe, Stephan, Golmard, Jean-Louis, Charfi, Rim, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Freeman, Colin, Gao, Jianjun, Gardner, Michelle, Gibbs, Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Klein, Christine, Gústafsson, Omar, Harris, Clare, Hellenthal, Garrett, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Huber, Heiko, Hagenah, Johann, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Gasser, Thomas, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Morris, Huw, Morrison, Karen E, Mudanohwo, Ese, O'Sullivan, Sean S, Pearson, Justin, Pearson, Richard, Perlmutter, Joel S, Wurster, Isabel, Pétursson, Hjörvar, Pirinen, Matti, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Lesage, Suzanne, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Sidransky, Ellen, de Silva, Rohan, Smith, Colin, Spencer, Chris Ca, Stefánsson, Hreinn, Steinberg, Stacy, Stockton, Joanna D, Strange, Amy, Su, Zhan, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Deuschl, Günther, Traynor, Bryan J, Uitterlinden, G., Vandrovcova, Jana, Velseboer, Daan, Vidailhet, Marie, Vukcevic, Damjan, Walker, Robert, van de Warrenburg, Bart, Weale, Michael E, Wickremaratchi, Mirdhu, Durif, Franck, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Martinez, Maria, Donnelly, Peter, Hardy, John, Heutink, Peter, Brice, Alexis, Wood, Nicholas W, Singleton, Andrew B, Nalls, Michael A, Damier, Philippe, Durr, Alexandra, Amouyel, Philippe, Lambert, Jean-Charles, Tzourio, Christophe, Maubaret, Cécilia, Charbonnier-Beaupel, Fanny, Tahiri, Khadija, Saad, Mohamad, Corvol, Jean-Christophe, Group, French Parkinson's Disease Genetics Study, Consortium, International Parkinson's Disease Genomics, Agid, Y., Anheim, M., Bonnet, A-M, Borg, M., Brice, A., Broussolle, E., Corvol, J-C, Damier, Ph, Destée, A., Durr, A., Durif, F., Klebe, S., Lohmann, E., Martinez, M., Penet, C., Bras, Jose M, Pollak, P., Krack, P., Rascol, O., Tison, F., Tranchant, C., Vérin, M., Viallet, F., Plagnol, Vincent, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Simón-Sánchez, Javier, Schulte, Claudia, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Band, Gavin, Simon-Sanchez, Javier, Barker, Roger A, Bellinguez, Céline, Ben-Shlomo, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob Ma, Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Kuhlenbäumer, Gregor, Cooper, J Mark, Corvol, Jean Christophe, Counsell, Carl, Dartigues, Jean-François, Deloukas, Panos, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank, INSERM UMR_S9745, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département de Biostatistiques [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), UCL Institute of neurology, UCL Institute of Neurology, Department of Clinical Genetics, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Institute of Experimental Medicine, Christian-Albrechts-University, Department of Neurology, University of Lübeck, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Department of Neurology, Christian-Albrechts-Universität zu Kiel (CAU), Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux (NPsy-Sydo), CHU Clermont-Ferrand-Université d'Auvergne - Clermont-Ferrand I (UdA), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Epidémiologie des maladies chroniques : impact des interactions gène environnement sur la santé des populations, Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé, Service de neurologie [Univ. Paris VII], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Epidémiologie et Biostatistique [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Departamento de Geologia CICESE, Centro de Investigacion Cientifica y de Education Superior de Ensenada [Mexico] (CICESE), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Human genetics, NCA - Brain mechanisms in health and disease, NCA - neurodegeneration, Child and Adolescent Psychiatry / Psychology, ANS - Amsterdam Neuroscience, Neurology, Graduate School, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7), Département de Neurologie [Paris], and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-IFR70-CHU Pitié-Salpêtrière [APHP]

Subjects
Male, medicine.medical_specialty, Genotype, DCN MP - Plasticity and memory, [SDV]Life Sciences [q-bio], genetics [Catechol O-Methyltransferase], Neurogenetics, Catechol O-Methyltransferase/genetics, Catechol O-Methyltransferase, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, Sex Factors, 0302 clinical medicine, genetics [Parkinson Disease], Internal medicine, medicine, Humans, ddc:610, Parkinson Disease/genetics, Age of Onset, Allele, Aged, 030304 developmental biology, Genetics, 0303 health sciences, Movement Disorders, Parkinson's Disease, Catechol-O-methyl transferase, Parkinson Disease, Middle Aged, Polymorphism, Single Nucleotide/genetics, ddc:616.8, Sexual dimorphism, Psychiatry and Mental health, Human Movement & Fatigue [DCN MP - Plasticity and memory NCEBP 10], Endocrinology, Cohort, genetics [Polymorphism, Single Nucleotide], Surgery, Neurology (clinical), Age of onset, Psychology, 030217 neurology & neurosurgery, rs4680
Abstract

Item does not contain fulltext The catechol-O-methyltranferase (COMT) is one of the main enzymes that metabolise dopamine in the brain. The Val158Met polymorphism in the COMT gene (rs4680) causes a trimodal distribution of high (Val/Val), intermediate (Val/Met) and low (Met/Met) enzyme activity. We tested whether the Val158Met polymorphism is a modifier of the age at onset (AAO) in Parkinson's disease (PD). The rs4680 was genotyped in a total of 16 609 subjects from five independent cohorts of European and North American origin (5886 patients with PD and 10 723 healthy controls). The multivariate analysis for comparing PD and control groups was based on a stepwise logistic regression, with gender, age and cohort origin included in the initial model. The multivariate analysis of the AAO was a mixed linear model, with COMT genotype and gender considered as fixed effects and cohort and cohort-gender interaction as random effects. COMT genotype was coded as a quantitative variable, assuming a codominant genetic effect. The distribution of the COMT polymorphism was not significantly different in patients and controls (p=0.22). The Val allele had a significant effect on the AAO with a younger AAO in patients with the Val/Val (57.1+/-13.9, p=0.03) than the Val/Met (57.4+/-13.9) and the Met/Met genotypes (58.3+/-13.5). The difference was greater in men (1.9 years between Val/Val and Met/Met, p=0.007) than in women (0.2 years, p=0.81). Thus, the Val158Met COMT polymorphism is not associated with PD in the Caucasian population but acts as a modifier of the AAO in PD with a sexual dimorphism: the Val allele is associated with a younger AAO in men with idiopathic PD.

Published
2013
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13. Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

Author

Keller, Margaux F, Saad, Mohamad, Schulte, Claudia, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw R, Morrison, Karen E, Mudanohwo, Ese, O'Sullivan, Sean S, Moskvina, Valentina, Pearson, Justin, Perlmutter, Joel S, Pétursson, Hjörvar, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Durr, Alexandra, Rizzu, Patrizia, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Sidransky, Ellen, Smith, Colin, Spencer, Chris C A, Holmans, Peter, Stefánsson, Hreinn, Steinberg, Stacy, Stockton, Joanna D, Strange, Amy, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J, Kilarski, Laura L, Uitterlinden, André G, Velseboer, Daan, Vidailhet, Marie, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Stefánsson, Kári, Guerreiro, Rita, Martinez, Maria, Sabatier, Paul, Hardy, John, Brice, Alexis, Singleton, Andrew B, Wood, Nicholas W, Donnelly, Peter, Barroso, Ines, Blackwell, Jenefer M, Bramon, Elvira, Hernandez, Dena G, Brown, Matthew A, Casas, Juan P, Corvin, Aiden, Deloukas, Panos, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S, Mathew, Christopher G, Palmer, Colin N A, Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J, Trembath, Richard C, Viswanathan, Ananth C, Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Ylikotila, Pauli, Giannoulatou, Eleni, Pirinen, Matti, Pearson, Richard, Su, Zhan, Vukcevic, Damjan, Langford, Cordelia, Hunt, Sarah E, Edkins, Sarah, Gwilliam, Rhian, Blackburn, Hannah, Bumpstead, Suzannah J, Dronov, Serge, Gillman, Matthew, Gray, Emma, Hammond, Naomi, Jayakumar, Alagurevathi, McCann, Owen T, Liddle, Jennifer, Bras, Jose, Majamaa, Kari, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, Sara, Whittaker, Pamela, Gasser, Thomas, Heutink, Peter, Nalls, Michael A, Bettella, Francesco, Consortium, International Parkinson's Disease Genomics, 2, Wellcome Trust Case Control Consortium, Plagnol, Vincent, Sheerin, Una-Marie, Simón-Sánchez, Javier, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Nicolaou, Nayia, Arepalli, Sampath, Ben-Shlomo, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob M A, Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Mittag, Florian, Cooper, J Mark, Corvol, Jean Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Segalen, Victor, Deuschl, Günther, Dexter, David T, van Dijk, Karin D, Büchel, Finja, Dillman, Allissa, Durif, Frank, Montpied, Gabriel, Evans, Jonathan R, Foltynie, Thomas, Gao, Jianjun, Gardner, Michelle, Gibbs, J Raphael, Goate, Alison, Sharma, Manu, Gústafsson, Omar, Harris, Clare, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Huber, Heiko, Hudson, Gavin, Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V, Lambert, Jean-Charles, Lees, Andrew, Lichtner, Peter, ANS - Amsterdam Neuroscience, Neurology, ACS - Amsterdam Cardiovascular Sciences, Graduate School, Human genetics, and NCA - Neurodegeneration

Subjects
Adult, Male, medicine.medical_specialty, Multifactorial Inheritance, Parkinson's disease, Functional Neurogenomics Human Movement & Fatigue [DCN 2], Single-nucleotide polymorphism, Genome-wide association study, Quantitative trait locus, Biology, Genome, White People, 03 medical and health sciences, Quantitative Trait, Heritable, 0302 clinical medicine, genetics [Parkinson Disease], Missing heritability problem, Molecular genetics, ddc:570, medicine, Genetics, Humans, Genetic Predisposition to Disease, Molecular Biology, Genetics (clinical), Aged, 030304 developmental biology, Genetic association, Aged, 80 and over, 0303 health sciences, Association Studies Articles, Genetic Variation, Family aggregation, Parkinson Disease, General Medicine, Middle Aged, Heritability, medicine.disease, Corrigenda, 3. Good health, genetics [European Continental Ancestry Group], Human Movement & Fatigue [DCN MP - Plasticity and memory NCEBP 10], Female, Trait analysis, 030217 neurology & neurosurgery, Imputation (genetics), Genome-Wide Association Study
Abstract

Contains fulltext : 110130.pdf (Publisher’s version ) (Closed access) Genome-wide association studies (GWASs) have been successful at identifying single-nucleotide polymorphisms (SNPs) highly associated with common traits; however, a great deal of the heritable variation associated with common traits remains unaccounted for within the genome. Genome-wide complex trait analysis (GCTA) is a statistical method that applies a linear mixed model to estimate phenotypic variance of complex traits explained by genome-wide SNPs, including those not associated with the trait in a GWAS. We applied GCTA to 8 cohorts containing 7096 case and 19 455 control individuals of European ancestry in order to examine the missing heritability present in Parkinson's disease (PD). We meta-analyzed our initial results to produce robust heritability estimates for PD types across cohorts. Our results identify 27% (95% CI 17-38, P = 8.08E - 08) phenotypic variance associated with all types of PD, 15% (95% CI -0.2 to 33, P = 0.09) phenotypic variance associated with early-onset PD and 31% (95% CI 17-44, P = 1.34E - 05) phenotypic variance associated with late-onset PD. This is a substantial increase from the genetic variance identified by top GWAS hits alone (between 3 and 5%) and indicates there are substantially more risk loci to be identified. Our results suggest that although GWASs are a useful tool in identifying the most common variants associated with complex disease, a great deal of common variants of small effect remain to be discovered.

Published
2012
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14. Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder

Author

Cichon, Sven, Mühleisen, Thomas W., Degenhardt, Franziska A., Mattheisen, Manuel, Miró, Xavier, Strohmaier, Jana, Steffens, Michael, Meesters, Christian, Herms, Stefan, Weingarten, Moritz, Priebe, Lutz, Haenisch, Britta, Alexander, Michael, Vollmer, Jennifer, Breuer, René, Schmäl, Christine, Tessmann, Peter, Moebus, Susanne, Wichmann, H.-Erich, Schreiber, Stefan, Müller-Myhsok, Bertram, Lucae, Susanne, Jamain, Stéphane, Leboyer, Marion, Bellivier, Frank, Etain, Bruno, Henry, Chantal, Kahn, Jean-Pierre, Heath, Simon, Hamshere, Marian, O'Donovan, Michael C., Owen, Michael J., Craddock, Nick, Schwarz, Markus, Vedder, Helmut, Kammerer-Ciernioch, Jutta, Reif, Andreas, Sasse, Johanna, Bauer, Michael, Hautzinger, Martin, Wright, Adam, Mitchell, Philip B., Schofield, Peter R., Montgomery, Grant W., Medland, Sarah E., Gordon, Scott D., Martin, Nicholas G., Gustafsson, Omar, Andreassen, Ole, Djurovic, Srdjan, Sigurdsson, Engilbert, Steinberg, Stacy, Stefansson, Hreinn, Stefansson, Kari, Kapur-Pojskic, Lejla, Oruc, Liliana, Rivas, Fabio, Mayoral, Fermín, Chuchalin, Alexander, Babadjanova, Gulja, Tiganov, Alexander S., Pantelejeva, Galina, Abramova, Lilia I., Grigoroiu-Serbanescu, Maria, Diaconu, Carmen C., Czerski, Piotr M., Hauser, Joanna, Zimmer, Andreas, Lathrop, Mark, Schulze, Thomas G., Wienker, Thomas F., Schumacher, Johannes, Maier, Wolfgang, Propping, Peter, Rietschel, Marcella, and Nöthen, Markus M.

Published
2011
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17. Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area

Author

Kähler, Anna K, Djurovic, Srdjan, Rimol, Lars M, Brown, Andrew Anand, Athanasiu, Lavinia, Jönsson, Erik G, Hansen, Thomas, Gústafsson, Omar, Hall, Håkan, Giegling, Ina, Muglia, Pierandrea, Cichon, Sven, Rietschel, Marcella, Pietiläinen, Olli P H, Peltonen, Leena, Bramon, Elvira, Collier, David, St Clair, David, Sigurdsson, Engilbert, Petursson, Hannes, Rujescu, Dan, Melle, Ingrid, Werge, Thomas, Steen, Vidar M, Dale, Anders M, Matthews, Russell T, Agartz, Ingrid, Andreassen, Ole A, Kähler, Anna K, Djurovic, Srdjan, Rimol, Lars M, Brown, Andrew Anand, Athanasiu, Lavinia, Jönsson, Erik G, Hansen, Thomas, Gústafsson, Omar, Hall, Håkan, Giegling, Ina, Muglia, Pierandrea, Cichon, Sven, Rietschel, Marcella, Pietiläinen, Olli P H, Peltonen, Leena, Bramon, Elvira, Collier, David, St Clair, David, Sigurdsson, Engilbert, Petursson, Hannes, Rujescu, Dan, Melle, Ingrid, Werge, Thomas, Steen, Vidar M, Dale, Anders M, Matthews, Russell T, Agartz, Ingrid, and Andreassen, Ole A

Abstract

The Human Natural Killer-1 carbohydrate (HNK-1) is involved in neurodevelopment and synaptic plasticity. Extracellular matrix structures called perineuronal nets, condensed around subsets of neurons and proximal dendrites during brain maturation, regulate synaptic transmission and plasticity.

Published
2011

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