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101. A whole genome association study in multiple sclerosis patients from north Portugal

Author: Martins Silva, Berta, Thorlacius, Theodora, Benediktsson, Kjartan, Pereira, Clara, Fossdal, Ragnheidur, Jonsson, Hjortur H., Silva, Ana, Leite, Isabel, Cerqueira, J., Costa, Paulo P., Marta, Monica, Foltynie, Thomas, Sawcer, Stephen, Compston, Alastair, and Jonasdottir, Aslaug
Published: 2003
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102. A whole genome screen for association in Polish multiple sclerosis patients

Author: Bielecki, Bartosz, Mycko, Marcin P., Tronczyńska, Ewa, Bieniek, Marek, Sawcer, Stephen, Setakis, Efrosini, Benediktsson, Kjartan, Compston, Alastair, and Selmaj, Krzysztof W.
Published: 2003
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103. Two genome-wide linkage disequilibrium screens in Scandinavian multiple sclerosis patients

Author: Harbo, Hanne F., Datta, Pameli, Oturai, Annette, Ryder, Lars P., Sawcer, Stephen, Setakis, Efrosini, Åkesson, Eva, Celius, Elisabeth G., Modin, Helena, Sandberg-Wollheim, Magnhild, Myhr, Kjell-Morten, Andersen, Oluf, Hillert, Jan, Sorensen, Per Soelberg, Svejgaard, Arne, Compston, Alastair, Vartdal, Frode, and Spurkland, Anne
Published: 2003
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104. A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population

Author: Liguori, Maria, Sawcer, Stephen, Setakis, Efrosini, Compston, Alastair, Giordano, Mara, D'Alfonso, Sandra, Mellai, Marta, Malferrari, Giulia, Trojano, Maria, Livrea, Paolo, De Robertis, Francesca, Massacesi, Luca, Repice, Anna, Ballerini, Clara, Biagioli, Tiziana, Bomprezzi, Roberto, Cannoni, Stefania, Ristori, Giovanni, Salvetti, Marco, Grimaldi, Luigi M.E., Biunno, Ida, Comi, Giancarlo, Leone, Maurizio, Ferro, Isabella, Naldi, Paola, Milanese, Clara, Gellera, Cinzia, Loredana, La Mantia, Savettieri, Giovanni, Salemi, Giuseppe, Aridon, Paolo, Caputo, Domenico, Rosa Guerini, Franca, Ferrante, Pasquale, and Momigliano-Richiardi, Patricia
Published: 2003
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105. A genome wide scan for association with multiple sclerosis in a N. Irish case control population

Author: Heggarty, Shirley, Sawcer, Stephen, Hawkins, Stanley, McDonnell, Gavin, Droogan, Aidan, Vandenbroeck, Koen, Hutchinson, Michael, Setakis, Efrosini, Compston, Alastair, and Graham, Colin
Published: 2003
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106. A whole genome association study in Icelandic multiple sclerosis patients with 4804 markers

Author: Jonasdottir, Aslaug, Thorlacius, Theodora, Fossdal, Ragnheidur, Jonasdottir, Adalbjorg, Benediktsson, Kjartan, Benedikz, John, Jonsson, Hjortur H., Sainz, Jesus, Einarsdottir, Helga, Sigurdardottir, Sonja, Kristjansdottir, Gudlaug, Sawcer, Stephen, Compston, Alastair, Stefansson, Kari, and Gulcher, Jeffrey
Published: 2003
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107. A genome-wide screen for association in Hungarian multiple sclerosis

Author: Rajda, Cecilia, Bencsik, Krisztina, Seres, Erika, Jonasdottir, Aslaug, Foltynie, Thomas, Sawcer, Stephen, Benediktsson, Kjartan, Fossdal, Ragnheidur, Setakis, Efrosini, Compston, Alastair, and Vécsei, László
Published: 2003
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108. A genome-wide German screen for linkage disequilibrium in multiple sclerosis

Author: Weber, Alexandra, Infante-Duarte, Carmen, Sawcer, Stephen, Setakis, Efrosini, Bellmann-Strobl, Judith, Hensiek, Anke, Rueckert, Sandra, Schoenemann, Constanze, Benediktsson, Kjartan, Compston, Alastair, and Zipp, Frauke
Published: 2003
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109. Genetic analysis of multiple sclerosis in Europeans: French data

Author: Alizadeh, Mehdi, Génin, Emmanuelle, Babron, Marie-Claude, Birebent, Brigitte, Cournu-Rebeix, Isabelle, Yaouanq, Jacqueline, Dréano, Stéphane, Sawcer, Stephen, Compston, Alastair, Clanet, Michel, Edan, Gilles, Fontaine, Bertrand, Clerget-Darpoux, Françoise, and Semana, Gilbert
Published: 2003
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110. New candidate loci for multiple sclerosis susceptibility revealed by a whole genome association screen in a Belgian population

Author: Goris, An, Sawcer, Stephen, Vandenbroeck, Koen, Carton, Herwig, Billiau, Alfons, Setakis, Efrosini, Compston, Alastair, and Dubois, Bénédicte
Published: 2003
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111. Refining the analysis of a whole genome linkage disequilibrium association map: the United Kingdom results

Author: Yeo, Tai Wai, Roxburgh, Richard, Maranian, Mel, Singlehurst, Sara, Gray, Julia, Hensiek, Anke, Setakis, Efrosini, Compston, Alastair, and Sawcer, Stephen
Published: 2003
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112. Refining the linkage analysis on chromosome 10 in 449 sib-pairs with multiple sclerosis

Author: Åkesson, Eva, Coraddu, Francesca, Marrosu, Maria Giovanna, Massacesi, Luca, Hensiek, Anke, Harbo, Hanne Flinstad, Oturai, Annette, Trojano, Maria, Momigliano-Richiardi, Patricia, Cocco, Eleonora, Murru, Raffaele, Hillert, Jan, Compston, Alastair, and Sawcer, Stephen
Published: 2003
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113. The Genetic Analysis of Multiple sclerosis in EuropeanS: concepts and design

Author: Sawcer, Stephen and Compston, Alastair
Published: 2003
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114. No evidence for the involvement of interleukin 2 or the immunoglobulin heavy chain gene cluster in determining genetic susceptibility to multiple sclerosis

Author: FEAKES, ROBERT, SAWCER, STEPHEN, SMILLIE, BELINDA, CHATAWAY, JEREMY, BROADLEY, SIMON, COMPSTON, ALASTAIR, CLAYTON, DAVID, and COMPSTON, ALASTAIR
Published: 2000

115. Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

Author: Int Multiple Sclerosis Genetics, Mitrovic, Mitja, Patsopoulos, Nikoloas, Beecham, Ashley, Dankowski, Theresa, Goris, An, Dubois, Bénédicte, D'hooghe, Marie B, Lemmens, Robin, Van Damme, Philip, Bach Sondergaard, Helle, Sellebjerg, Finn, Soelberg Sorensen, Per, Ullum, Henrik, Thorner, Lise W, Werge, Thomas, Saarela, Janna, Cournu-Rebeix, Isabelle, Damotte, Vincent, Fontaine, Bertrand, Guillot-Noel, Lena, Lathrop, Mark, Vukusik, Sandra, Gourraud, Pierre-Antoine, Andlauer, Till FM, Pongratz, Viola, Buck, Dorothea, Gasperi, Christiane, Bayas, Antonios, Heesen, Christoph, Kümpfel, Tania, Linker, Ralf, Friedemann, Paul, Stangel, Martin, Tackenberg, Björn, Then Bergh, Florian, Warnke, Clemens, Wiendl, Heinz, Wildemann, Brigitte, Zettl, Uwe, Ziemann, Ulf, Tumani, Hayrettin, Gold, Ralf, Grummel, Verena, Hemmer, Bernhard, Knier, Benjamin, Lill, Christina, Luessi, Felix, Dardiotis, Efthimios, Agliardi, Cristina, Barizzone, Nadia, Mascia, Elisabetta, Bernardinelli, Luisa, Comi, Giancarlo, Cusi, Daniele, Esposito, Federica, Ferrè, Laura, Comi, Cristoforo, Galimberti, Daniela, Leone, Maurizio A, Sorosina, Melissa, Mescheriakova, Julia, Hintzen, Rogier, van Duijn, Cornelia, Theunissen, Charlotte E, Bos, Steffan D, Myhr, Kjell-Morten, Celius, Elisabeth G, Lie, Benedicte A, Spurkland, Anne, Comabella, Manuel, Montalban, Xavier, Alfredsson, Lars, Stridh, Pernilla, Hillert, Jan, Jagodic, Maja, Piehl, Fredrik, Jelcic, Ilijas, Martin, Roland, Sospedra, Mireia, Ban, Maria, Hawkins, Clive, Hysi, Pirro, Kalra, Seema, Karpe, Fredrik, Khadake, Jyoti, Lachance, Genevieve, Neville, Matthew, Santaniello, Adam, Caillier, Stacy J, Calavresi, Peter A, Cree, Bruce AC, Cross, Anne, Davis, Mary F, Haines, Jonathan L, de Bakker, Paul IW, Delgado, Silvia, Dembele, Marieme, Edwards, Keith, Fitzgerald, Kathryn C, Hakonarson, Hakon, Konidari, Ioanna, Lathi, Ellen, Manrique, Clara P, Pericak-Vance, Margaret A, Piccio, Laura, Schaefer, Cathy, McCabe, Cristin, Weiner, Howard, Goldstein, Jacqueline, Olsson, Tomas, Hadjigeorgiou, Georgios, Taylor, Bruce, Tajouri, Lotti, Charlesworth, Jac, Booth, David R, HArbo, Hanne F, Ivinson, Adrian J, Hauser, Stephen L, Compston, Alistair, Stewart, Graeme, Zipp, Frauke, Barcellos, Lisa F, Baranzini, Sergio E, Martinelli-Boneschi, Filippo, D'Alfonso, Sandra, Ziegler, Andreas, Oturai, Annette, McCauley, Jacob L, Sawcer, Stephen J, Oksenberg, Jorge R, De Jager, Philip L, Kockum, Ingrid, Hafler, David A, and Cotsapas, Chris
Subjects: Biochemistry & Molecular Biology, Science & Technology, REPLICATION, LINKAGE, Cell Biology, GENETIC RISK, GENOME-WIDE ASSOCIATION, VARIANTS, Life Sciences & Biomedicine, METAANALYSIS, POPULATION
Abstract: Multiple sclerosis is a complex neurological disease, with ∼20% of risk heritability attributable to common genetic variants, including >230 identified by genome-wide association studies. Multiple strands of evidence suggest that much of the remaining heritability is also due to additive effects of common variants rather than epistasis between these variants or mutations exclusive to individual families. Here, we show in 68,379 cases and controls that up to 5% of this heritability is explained by low-frequency variation in gene coding sequence. We identify four novel genes driving MS risk independently of common-variant signals, highlighting key pathogenic roles for regulatory T cell homeostasis and regulation, IFNγ biology, and NFκB signaling. As low-frequency variants do not show substantial linkage disequilibrium with other variants, and as coding variants are more interpretable and experimentally tractable than non-coding variation, our discoveries constitute a rich resource for dissecting the pathobiology of MS. ispartof: CELL vol:175 issue:6 pages:1679-1695 ispartof: location:United States status: published
Published: 2018

116. Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

Author: Mitrovič, Mitja, Patsopoulos, Nikolaos, Beecham, Ashley, Dankowski, Theresa, Goris, An, Dubois, Bénédicte, D’hooghe, Marie, Lemmens, Robin, Van Damme, Philip, Søndergaard, Helle Bach, Sellebjerg, Finn, Sorensen, Per Soelberg, Ullum, Henrik, Thørner, Lise, Werge, Thomas, Saarela, Janna, Cournu-Rebeix, Isabelle, Damotte, Vincent, Fontaine, Bertrand, Guillot-Noel, Lena, Lathrop, Mark, Vukusik, Sandra, Gourraud, Pierre-Antoine, Andlauer, Till F.M., Pongratz, Viola, Buck, Dorothea, Gasperi, Christiane, Bayas, Antonios, Heesen, Christoph, Kümpfel, Tania, Linker, Ralf, Paul, Friedemann, Stangel, Martin, Tackenberg, Björn, Bergh, Florian Then, Warnke, Clemens, Wiendl, Heinz, Wildemann, Brigitte, Zettl, Uwe, Ziemann, Ulf, Tumani, Hayrettin, Gold, Ralf, Grummel, Verena, Hemmer, Bernhard, Knier, Benjamin, Lill, Christina, Luessi, Felix, Dardiotis, Efthimios, Agliardi, Cristina, Barizzone, Nadia, Mascia, Elisabetta, Bernardinelli, Luisa, Comi, Giancarlo, Cusi, Daniele, Esposito, Federica, Ferrè, Laura, Comi, Cristoforo, Galimberti, Daniela, Leone, Maurizio, Sorosina, Melissa, Mescheriakova, Julia, Hintzen, Rogier, Van Duijn, Cornelia, Teunissen, Charlotte, Bos, Steffan, Myhr, Kjell-Morten, Celius, Elisabeth, Lie, Benedicte, Spurkland, Anne, Comabella, Manuel, Montalban, Xavier, Alfredsson, Lars, Stridh, Pernilla, Hillert, Jan, Jagodic, Maja, Piehl, Fredrik, Jelčić, Ilijas, Martin, Roland, Sospedra, Mireia, Ban, Maria, Hawkins, Clive, Hysi, Pirro, Kalra, Seema, Karpe, Fredrik, Khadake, Jyoti, Lachance, Genevieve, Neville, Matthew, Santaniello, Adam, Caillier, Stacy, Calabresi, Peter, Cree, Bruce A.C., Cross, Anne, Davis, Mary, Haines, Jonathan, de Bakker, Paul I.W., Delgado, Silvia, Dembele, Marieme, Edwards, Keith, Fitzgerald, Kathryn, Hakonarson, Hakon, Konidari, Ioanna, Lathi, Ellen, Manrique, Clara, Pericak-Vance, Margaret, Piccio, Laura, Schaefer, Cathy, McCabe, Cristin, Weiner, Howard, Goldstein, Jacqueline, Olsson, Tomas, Hadjigeorgiou, Georgios, Taylor, Bruce, Tajouri, Lotti, Charlesworth, Jac, Booth, David, Harbo, Hanne, Ivinson, Adrian, Hauser, Stephen, Compston, Alastair, Stewart, Graeme, Zipp, Frauke, Barcellos, Lisa, Baranzini, Sergio, Martinelli-Boneschi, Filippo, D’Alfonso, Sandra, Ziegler, Andreas, Oturai, Annette, McCauley, Jacob, Sawcer, Stephen, Oksenberg, Jorge, De Jager, Philip, Kockum, Ingrid, Hafler, David, Cotsapas, Chris, Søndergaard, Helle, Sorensen, Per, Andlauer, Till, Bergh, Florian, Cree, Bruce, De Bakker, Paul, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), and Centre de Recherche en Myologie
Subjects: [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]
Abstract: International audience; Multiple sclerosis is a complex neurological disease, with ∼20% of risk heritability attributable to common genetic variants, including >230 identified by genome-wide association studies. Multiple strands of evidence suggest that much of the remaining heritability is also due to additive effects of common variants rather than epistasis between these variants or mutations exclusive to individual families. Here, we show in 68,379 cases and controls that up to 5% of this heritability is explained by low-frequency variation in gene coding sequence. We identify four novel genes driving MS risk independently of common-variant signals, highlighting key pathogenic roles for regulatory T cell homeostasis and regulation, IFNγ biology, and NFκB signaling. As low-frequency variants do not show substantial linkage disequilibrium with other variants, and as coding variants are more interpretable and experimentally tractable than non-coding variation, our discoveries constitute a rich resource for dissecting the pathobiology of MS.
Published: 2018

117. No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson's disease in nine ADHD candidate SNPs

Author: Geissler, Julia M, Romanos, Marcel, Sheerin, Una-Marie, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Sidransky, Ellen, Smith, Colin, Spencer, Chris C A, Stefánsson, Hreinn, Steinberg, Stacy, Stockton, Joanna D, Strange, Amy, Saad, Mohamad, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J, Uitterlinden, André G, Velseboer, Daan, Vidailhet, Marie, Walker, Robert, Simón-Sánchez, Javier, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Hardy, John, Heutink, Peter, Brice, Alexis, Schulte, Claudia, Gasser, Thomas, Singleton, Andrew B, Wood, Nicholas W, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Barker, Roger, Ben-Shlomo, Yoav, Berendse, Henk W, Gerlach, Manfred, Berg, Daniela, Bhatia, Kailash, de Bie, Rob M A, Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Cooper, J Mark, Corvol, Jean Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Deuschl, Günther, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank, Dürr, Alexandra, Edkins, Sarah, members, International Parkinson Disease Genomics Consortium, Evans, Jonathan R, Foltynie, Thomas, Gao, Jianjun, Gardner, Michelle, Gibbs, J Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Gústafsson, Ómar, Harris, Clare, Nalls, Mike, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Huber, Heiko, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna, Plagnol, Vincent, Illig, Thomas, Jónsson, Pálmi V, Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, Hernandez, Dena G, Moorby, Catriona, Moore, Matthew, Morris, Huw R, Morrison, Karen E, Mudanohwo, Ese, O'Sullivan, Sean S, Pearson, Justin, Perlmutter, Joel S, Pétursson, Hjörvar, Pollak, Pierre, Sharma, Manu, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Human genetics, Neurology, Amsterdam Neuroscience - Neurodegeneration, Geissler, Julia M [0000-0003-1878-9647], and Apollo - University of Cambridge Repository
Subjects: 0301 basic medicine, Parkinson's disease, Single-nucleotide polymorphism, Genome-wide association study, genetics [Attention Deficit Disorder with Hyperactivity], Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, genetics [Parkinson Disease], medicine, Attention deficit hyperactivity disorder, ADHD, GWAS, Humans, Genetic Predisposition to Disease, ddc:610, genetics [Genetic Predisposition to Disease], Genetic Association Studies, Genetic association, Dopamine transporter, Genetics, TPH2, biology, Parkinson Disease, General Medicine, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Psychiatry and Mental health, Clinical Psychology, 030104 developmental biology, Norepinephrine transporter, Attention Deficit Disorder with Hyperactivity, biology.protein, genetics [Polymorphism, Single Nucleotide], Parkinson’s disease, Psychology, 030217 neurology & neurosurgery, CDH13, SNPs
Abstract: Item does not contain fulltext Attention-deficit/hyperactivity disorder (ADHD) and Parkinson's disease (PD) involve pathological changes in brain structures such as the basal ganglia, which are essential for the control of motor and cognitive behavior and impulsivity. The cause of ADHD and PD remains unknown, but there is increasing evidence that both seem to result from a complicated interplay of genetic and environmental factors affecting numerous cellular processes and brain regions. To explore the possibility of common genetic pathways within the respective pathophysiologies, nine ADHD candidate single nucleotide polymorphisms (SNPs) in seven genes were tested for association with PD in 5333 cases and 12,019 healthy controls: one variant, respectively, in the genes coding for synaptosomal-associated protein 25 k (SNAP25), the dopamine (DA) transporter (SLC6A3; DAT1), DA receptor D4 (DRD4), serotonin receptor 1B (HTR1B), tryptophan hydroxylase 2 (TPH2), the norepinephrine transporter SLC6A2 and three SNPs in cadherin 13 (CDH13). Information was extracted from a recent meta-analysis of five genome-wide association studies, in which 7,689,524 SNPs in European samples were successfully imputed. No significant association was observed after correction for multiple testing. Therefore, it is reasonable to conclude that candidate variants implicated in the pathogenesis of ADHD do not play a substantial role in PD.
Published: 2018
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118. Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

Author: Mitrovič, Mitja, primary, Patsopoulos, Nikolaos A., additional, Beecham, Ashley H., additional, Dankowski, Theresa, additional, Goris, An, additional, Dubois, Bénédicte, additional, D’hooghe, Marie B., additional, Lemmens, Robin, additional, Van Damme, Philip, additional, Søndergaard, Helle Bach, additional, Sellebjerg, Finn, additional, Sorensen, Per Soelberg, additional, Ullum, Henrik, additional, Thørner, Lise W., additional, Werge, Thomas, additional, Saarela, Janna, additional, Cournu-Rebeix, Isabelle, additional, Damotte, Vincent, additional, Fontaine, Bertrand, additional, Guillot-Noel, Lena, additional, Lathrop, Mark, additional, Vukusik, Sandra, additional, Gourraud, Pierre-Antoine, additional, Andlauer, Till F.M., additional, Pongratz, Viola, additional, Buck, Dorothea, additional, Gasperi, Christiane, additional, Bayas, Antonios, additional, Heesen, Christoph, additional, Kümpfel, Tania, additional, Linker, Ralf, additional, Paul, Friedemann, additional, Stangel, Martin, additional, Tackenberg, Björn, additional, Bergh, Florian Then, additional, Warnke, Clemens, additional, Wiendl, Heinz, additional, Wildemann, Brigitte, additional, Zettl, Uwe, additional, Ziemann, Ulf, additional, Tumani, Hayrettin, additional, Gold, Ralf, additional, Grummel, Verena, additional, Hemmer, Bernhard, additional, Knier, Benjamin, additional, Lill, Christina M., additional, Luessi, Felix, additional, Dardiotis, Efthimios, additional, Agliardi, Cristina, additional, Barizzone, Nadia, additional, Mascia, Elisabetta, additional, Bernardinelli, Luisa, additional, Comi, Giancarlo, additional, Cusi, Daniele, additional, Esposito, Federica, additional, Ferrè, Laura, additional, Comi, Cristoforo, additional, Galimberti, Daniela, additional, Leone, Maurizio A., additional, Sorosina, Melissa, additional, Mescheriakova, Julia, additional, Hintzen, Rogier, additional, van Duijn, Cornelia, additional, Teunissen, Charlotte E., additional, Bos, Steffan D., additional, Myhr, Kjell-Morten, additional, Celius, Elisabeth G., additional, Lie, Benedicte A., additional, Spurkland, Anne, additional, Comabella, Manuel, additional, Montalban, Xavier, additional, Alfredsson, Lars, additional, Stridh, Pernilla, additional, Hillert, Jan, additional, Jagodic, Maja, additional, Piehl, Fredrik, additional, Jelčić, Ilijas, additional, Martin, Roland, additional, Sospedra, Mireia, additional, Ban, Maria, additional, Hawkins, Clive, additional, Hysi, Pirro, additional, Kalra, Seema, additional, Karpe, Fredrik, additional, Khadake, Jyoti, additional, Lachance, Genevieve, additional, Neville, Matthew, additional, Santaniello, Adam, additional, Caillier, Stacy J., additional, Calabresi, Peter A., additional, Cree, Bruce A.C., additional, Cross, Anne, additional, Davis, Mary F., additional, Haines, Jonathan L., additional, de Bakker, Paul I.W., additional, Delgado, Silvia, additional, Dembele, Marieme, additional, Edwards, Keith, additional, Fitzgerald, Kathryn C., additional, Hakonarson, Hakon, additional, Konidari, Ioanna, additional, Lathi, Ellen, additional, Manrique, Clara P., additional, Pericak-Vance, Margaret A., additional, Piccio, Laura, additional, Schaefer, Cathy, additional, McCabe, Cristin, additional, Weiner, Howard, additional, Goldstein, Jacqueline, additional, Olsson, Tomas, additional, Hadjigeorgiou, Georgios, additional, Taylor, Bruce, additional, Tajouri, Lotti, additional, Charlesworth, Jac, additional, Booth, David R., additional, Harbo, Hanne F., additional, Ivinson, Adrian J., additional, Hauser, Stephen L., additional, Compston, Alastair, additional, Stewart, Graeme, additional, Zipp, Frauke, additional, Barcellos, Lisa F., additional, Baranzini, Sergio E., additional, Martinelli-Boneschi, Filippo, additional, D’Alfonso, Sandra, additional, Ziegler, Andreas, additional, Oturai, Annette, additional, McCauley, Jacob L., additional, Sawcer, Stephen J., additional, Oksenberg, Jorge R., additional, De Jager, Philip L., additional, Kockum, Ingrid, additional, Hafler, David A., additional, and Cotsapas, Chris, additional
Published: 2019
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119. Low Frequency Coding Variation in CYP2R1 has Large Effects on Vitamin D Level and Risk of Multiple Sclerosis

Author: Manousaki, Despoina, Dudding, Tom, Haworth, Simon, Hsu, Yi-Hsiang, Liu, Ching-Ti, Medina-Gomez, Carolina, Trudy Voortman, Velde, Nathalie, Melhus, Hakan, Robinson-Cohen, Cassiane, Cousminer, Diana, Nethander, Maria, Vanderput, Liesbeth, Noordam, Raymond, Forgetta, Vincenzo, Greenwood, Celia, Biggs, Mary Lou, Psaty, Bruce, Rotter, Jerome, Zemel, Babette, Mitchell, Jonathan, Taylor, Bruce, Lorentzon, Matthias, Karlsson, Magnus, Jaddoe, Vincent, Tiemeier, Henning, Campos-Obando, Natalia, Franco, Oscar, Uitterlinden, Andre, Broer, Linda, Schoor, Natasja, Ham, Annelies, Ikram, M. Arfan, Karasik, David, Mutsert, Renee, Rosendaal, Fritz, Den Heijer, Martin, Wang, Thomas, Lind, Lars, Orwoll, Eric, Mook-Kanamori, Dennis O., Michaelsson, Karl, Kestenbaum, Bryan, Ohlsson, Claes, Mellstrom, Dan, Groot, Lisette, Grant, Struan, Kiel, Douglas, Zillikens, Carola, Rivadeneira, Fernando, Sawcer, Stephen, Timpson, Nicholas, and Richards, Brent
Published: 2017

120. Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

Author: Consortium, Coffee and Caffeine Genetics, Cornelis, Marilyn C, Renstrom, Frida, Rasheed, Asif, Mason, Marc A, Zonderman, Alan B, Franke, Lude, Kristal, Bruce S, Consortium, International Parkinson’s Disease Genomics, Consortium, North American Brain Expression, Consortium, UK Brain Expression, Karjalainen, Juha, Reed, Danielle R, Ngwa, Julius S, Westra, Harm-Jan, Evans, Michele K, Saleheen, Danish, Harris, Tamara B, Dedoussis, George, Curhan, Gary, Stumvoll, Michael, Beilby, John, Pasquale, Louis R, Feenstra, Bjarke, Huikari, Ville, Bandinelli, Stefania, Ordovas, Jose M, Chan, Andrew T, Peters, Ulrike, Ohlsson, Claes, Gieger, Christian, Martin, Nicholas G, Waldenberger, Melanie, Siscovick, David S, Raitakari, Olli, Cavadino, Alana, Eriksson, Johan G, Mitchell, Paul, Hunter, David J, Kraft, Peter, Rimm, Eric B, Boomsma, Dorret I, Borecki, Ingrid B, Loos, Ruth Jf, Wareham, Nicholas J, Vollenweider, Peter, Nolte, Ilja M, Caporaso, Neil, Grabe, Hans Jörgen, Neuhouser, Marian L, Wolffenbuttel, Bruce Hr, Hu, Frank B, Hyppönen, Elina, Järvelin, Marjo-Riitta, Cupples, L Adrienne, Franks, Paul W, Ridker, Paul M, Teumer, Alexander, van Duijn, Cornelia M, Heiss, Gerardo, Metspalu, Andres, North, Kari E, Ingelsson, Erik, Nettleton, Jennifer A, van Dam, Rob M, Chasman, Daniel I, Nalls, Michael A, Plagnol, Vincent, Yu, Kai, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Saad, Mohamad, Simón-Sánchez, Javier, Schulte, Claudia, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Barker, Roger, Marques-Vidal, Pedro, Ben-Shlomo, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob M A, Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Bras, M., Rawal, Rajesh, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Cooper, J Mark, Manichaikul, Ani, Corvol, Jean Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Deuschl, Günther, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank, Byrne, Enda M, Wojczynski, Mary K, Dürr, Alexandra, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Dong, Jing, Gardner, Michelle, Gibbs, J Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Vink, Jacqueline M, Harris, Clare, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Hershey, Milton S, Wurster, Isabel, Mätzler, Walter, Zhao, Jing Hua, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna, Illig, Thomas, München, Helmholtz Zentrum, Jónsson, Pálmi V, Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Burlutsky, George, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw R, Morrison, Karen E, O' Sullivan, Sean S, Lahti, Jari, Pearson, Justin, Perlmutter, Joel S, Pétursson, Hjörvar, Pollak, Pierre, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Mikkilä, Vera, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Sidransky, Ellen, Smith, Colin, Spencer, Chris C A, Stefánsson, Hreinn, Bettella, Francesco, Lemaitre, Rozenn N, Stockton, Joanna D, Strange, Amy, Talbot, Kevin, Tanner, M., Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J, Uitterlinden, André G, Velseboer, Daan, Eriksson, Joel, Vidailhet, Marie, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Sabatier, Paul, Musani, Solomon K, Wood, Nicholas W, Hardy, John, Heutink, Peter, Brice, Alexis, Gasser, Thomas, Singleton, Andrew B, Singleton, Andrew, Cookson, Mark, Hernandez, Dena, Tanaka, Toshiko, Nalls, Michael, Zonderman, Alan, Ferrucci, Luigi, Johnson, Robert, Longo, Dan, O'Brien, Richard, Traynor, Bryan, Troncoso, Juan, Esko, Tõnu, Geller, Frank, van der Brug, Marcel, Zielke, Ronald, Weale, Michael, Ramasamy, Adaikalavan, Box, P. O., Luan, Jian'an, Hui, Jennie, Mägi, Reedik, Dimitriou, Maria, Garcia, Melissa E, Ho, Weang-Kee, Wright, Margaret J, Rose, Lynda M, Magnusson, Patrik Ke, Pedersen, Nancy L, Couper, David, Oostra, Ben A, Ikram, Mohammad Arfan, Tiemeier, Henning W, Uitterlinden, Andre G, van Rooij, Frank Ja, Barroso, Inês, Johansson, Ingegerd, Ganna, Andrea, Xue, Luting, Kaakinen, Marika, Milani, Lili, Power, Chris, Snieder, Harold, Stolk, Ronald P, Baumeister, Sebastian E, Biffar, Reiner, Gu, Fangyi, Bastardot, François, Paynter, Nina, Kutalik, Zoltán, Jacobs, David R, Forouhi, Nita G, Mihailov, Evelin, Lind, Lars, Lindgren, Cecilia, Michaëlsson, Karl, Morris, Andrew, Jensen, Majken, Khaw, Kay-Tee, Monda, Keri L, Luben, Robert N, Wang, Jie Jin, Männistö, Satu, Perälä, Mia-Maria, Kähönen, Mika, Lehtimäki, Terho, Viikari, Jorma, Mozaffarian, Dariush, Mukamal, Kenneth, Psaty, Bruce M, Amin, Najaf, Döring, Angela, Heath, Andrew C, Montgomery, Grant W, Dahmen, Norbert, Carithers, Teresa, Tucker, Katherine L, Boyd, Heather A, Melbye, Mads, Treur, Jorien L, Fischer, Krista, Mellström, Dan, Hottenga, Jouke Jan, Prokopenko, Inga, Tönjes, Anke, Kanoni, Stavroula, Lorentzon, Mattias, Houston, Denise K, Liu, Yongmei, Danesh, John, Biological Psychology, Nutrition and Health, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, The, Coffee, Cornelis, MC, Byrne, Enda, Esko, Tonu, Nalls, MA, Hyppönen, Elina, Chasman, DI, The Coffee and Caffeine Genetics Consortium, International Parkinson's Disease Genomics Consortium (IPDGC), UK Brain Expression Consortium (UKBEC), North American Brain Expression Consortium (NABEC), Epidemiology, Surgery, Public Health, Cell biology, Hematology, Clinical Genetics, Internal Medicine, Life Course Epidemiology (LCE), Lifestyle Medicine (LM), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Center for Liver, Digestive and Metabolic Diseases (CLDM), Stem Cell Aging Leukemia and Lymphoma (SALL), ANS - Amsterdam Neuroscience, Neurology, Graduate School, Pediatric surgery, VU University medical center, NCA - neurodegeneration, Human genetics, NCA - Brain mechanisms in health and disease, and NCA - Neurobiology of mental health
Subjects: INVOLVEMENT, Netherlands Twin Register (NTR), GCKR protein, human, PROTEIN, Genome-wide association study, VARIANTS, genetics [Brain-Derived Neurotrophic Factor], chemistry.chemical_compound, 0302 clinical medicine, Polymorphism (computer science), genetics [Adaptor Proteins, Signal Transducing], BINDING, BRAIN, Genetics, 0303 health sciences, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, Psychiatry and Mental health, Phenotype, genetics [Polymorphism, Single Nucleotide], genetics [Cytochrome P-450 CYP1A2], Caffeine, CAFFEINE, Single-nucleotide polymorphism, Biology, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, SDG 3 - Good Health and Well-being, Cytochrome P-450 CYP1A2, SNP, Humans, ddc:610, Allele, genetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors], Molecular Biology, 030304 developmental biology, Adaptor Proteins, Signal Transducing, MLXIPL protein, human, RECEPTOR, Brain-Derived Neurotrophic Factor, Coffea, ta1182, Feeding Behavior, biology.organism_classification, ta3124, BDNF, chemistry, Behavioral medicine, Developmental Psychopathology, 030217 neurology & neurosurgery, GLUCOKINASE, metabolism [Coffea], Genome-Wide Association Study
Abstract: Contains fulltext : 155360.pdf (Publisher’s version ) (Closed access) Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91,462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followed-up in ~30 062 and 7964 coffee consumers of European and African-American ancestry, respectively. Studies from both stages were combined in a trans-ethnic meta-analysis. Confirmed loci were examined for putative functional and biological relevance. Eight loci, including six novel loci, met GW significance (log10Bayes factor (BF)>5.64) with per-allele effect sizes of 0.03-0.14 cups per day. Six are located in or near genes potentially involved in pharmacokinetics (ABCG2, AHR, POR and CYP1A2) and pharmacodynamics (BDNF and SLC6A4) of caffeine. Two map to GCKR and MLXIPL genes related to metabolic traits but lacking known roles in coffee consumption. Enhancer and promoter histone marks populate the regions of many confirmed loci and several potential regulatory SNPs are highly correlated with the lead SNP of each. SNP alleles near GCKR, MLXIPL, BDNF and CYP1A2 that were associated with higher coffee consumption have previously been associated with smoking initiation, higher adiposity and fasting insulin and glucose but lower blood pressure and favorable lipid, inflammatory and liver enzyme profiles (P
Published: 2015

121. Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

Author: Kenyan Bacteraemia Study Group, Wellcome Trust Case Control Consortium 2 (WTCCC2), Rautanen, Anna, Pirinen, Matti, Mills, Tara C, Rockett, Kirk A, Strange, Amy, Ndungu, Anne W, Naranbhai, Vivek, Gilchrist, James J, Bellenguez, Céline, Freeman, Colin, Band, Gavin, Bumpstead, Suzannah J, Edkins, Sarah, Giannoulatou, Eleni, Gray, Emma, Dronov, Serge, Hunt, Sarah E, Langford, Cordelia, Pearson, Richard D, Su, Zhan, Vukcevic, Damjan, Macharia, Alex W, Uyoga, Sophie, Ndila, Carolyne, Mturi, Neema, Njuguna, Patricia, Mohammed, Shebe, Berkley, James A, Mwangi, Isaiah, Mwarumba, Salim, Kitsao, Barnes S, Lowe, Brett S, Morpeth, Susan C, Khandwalla, Iqbal, Kilifi Bacteraemia Surveillance Group, Blackwell, Jenefer M, Bramon, Elvira, Brown, Matthew A, Casas, Juan P, Corvin, Aiden, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S, Mathew, Christopher G, Palmer, Colin NA, Plomin, Robert, Sawcer, Stephen J, Trembath, Richard C, Viswanathan, Ananth C, Wood, Nicholas W, Deloukas, Panos, Peltonen, Leena, Williams, Thomas N, Scott, J Anthony G, Chapman, Stephen J, Donnelly, Peter, Hill, Adrian VS, Spencer, Chris CA, Markus, Hugh [0000-0002-9794-5996], Sawcer, Stephen [0000-0001-7685-0974], and Apollo - University of Cambridge Repository
Subjects: Polymorphism, Genetic, Adolescent, Infant, Newborn, Infant, Bacteremia, Pneumonia, Pneumococcal, Kenya, Streptococcus pneumoniae, Risk Factors, Case-Control Studies, Child, Preschool, parasitic diseases, Humans, RNA, Long Noncoding, Child, Genome-Wide Association Study
Abstract: Bacteremia (bacterial bloodstream infection) is a major cause of illness and death in sub-Saharan Africa but little is known about the role of human genetics in susceptibility. We conducted a genome-wide association study of bacteremia susceptibility in more than 5,000 Kenyan children as part of the Wellcome Trust Case Control Consortium 2 (WTCCC2). Both the blood-culture-proven bacteremia case subjects and healthy infants as controls were recruited from Kilifi, on the east coast of Kenya. Streptococcus pneumoniae is the most common cause of bacteremia in Kilifi and was thus the focus of this study. We identified an association between polymorphisms in a long intergenic non-coding RNA (lincRNA) gene (AC011288.2) and pneumococcal bacteremia and replicated the results in the same population (p combined = 1.69 × 10(-9); OR = 2.47, 95% CI = 1.84-3.31). The susceptibility allele is African specific, derived rather than ancestral, and occurs at low frequency (2.7% in control subjects and 6.4% in case subjects). Our further studies showed AC011288.2 expression only in neutrophils, a cell type that is known to play a major role in pneumococcal clearance. Identification of this novel association will further focus research on the role of lincRNAs in human infectious disease.
Published: 2016

122. No evidence for association between an MAOA functional polymorphism and susceptibility to Parkinson’s disease

Author: Williams-Gray, Caroline, Goris, An, Foltynie, Thomas, Compston, Alastair, Sawcer, Stephen, and Barker, Roger A.
Published: 2009
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123. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

Author: Jansen, Iris E, Ye, Hui, Gibbs, J Raphael, Illig, Thomas, Jónsson, Pálmi V, Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, Lungu, Codrin, Nalls, Mike A, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw R, Morrison, Karen E, Escott-Price, Valentina, Mudanohwo, Ese, O'Sullivan, Sean S, Pearson, Justin, Perlmutter, Joel S, Ryten, Mina, Pétursson, Hjörvar, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Sawcer, Stephen, Botia, Juan A, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Shulman, Joshua, Sidransky, Ellen, Smith, Colin, Spencer, Chris C A, Stefánsson, Hreinn, Bettella, Francesco, Vandrovcova, Jana, Stockton, Joanna D, Strange, Amy, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J, Uitterlinden, André G, Velseboer, Daan, Simon Sanchez, Javier, Vidailhet, Marie, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Wood, Nicholas W, Castillo Lizardo, Melissa Gissel, Hardy, John, Heutink, Peter, Brice, Alexis, Gasser, Thomas, Singleton, Andrew B, Rizzu, Patrizia, Blauwendraat, Cornelis, Chouhan, Amit K, Heetveld, Sasja, Li, Yarong, Yogi, Puja, Amin, Najaf, van Duijn, Cornelia M, Consortium, International Parkinson’s Disease Genetics, David, Della C, Nollen, Ellen A, Lechler, Marie C, Jain, Shushant, Shulman, Joshua M, Plagnol, Vincent, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Saad, Mohamad, SimónSánchez, Javier, Schulte, Claudia, Michels, Helen, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Barker, Roger, Ben-Shlomo, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob M A, Biffi, Alessandro, Seinstra, Renée I, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Majounie, Elisa, Lubbe, Steven, Price, Ryan, Lubbe, Steven J, Nicolas, Aude, Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Cooper, J Mark, Corvol, Jean Christophe, Drouet, Valérie, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Deuschl, Günther, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank, Dürr, Alexandra, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Dong, Jing, Gardner, Michelle, Goate, Alison, Gray, Emma, Guerreiro, Rita, Harris, Clare, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Wurster, Isabel, Mätzler, Walter, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna, Epidemiology, Neurology, Amsterdam Neuroscience - Neurodegeneration, Human genetics, ANS - Neurodegeneration, Graduate School, ANS - Neuroinfection & -inflammation, Botia, Juan A [0000-0002-6992-598X], Chouhan, Amit K [0000-0003-2991-6402], Amin, Najaf [0000-0002-8944-1771], van Duijn, Cornelia M [0000-0002-2374-9204], David, Della C [0000-0001-8597-9470], and Apollo - University of Cambridge Repository
Subjects: 0301 basic medicine, Candidate gene, G-PATCH, Parkinson's disease, methods [Sequence Analysis, DNA], Compound heterozygosity, AXON GUIDANCE, Animals, Genetically Modified, DOMAIN-CONTAINING 2, genetics [Parkinson Disease], Exome, Child, Cells, Cultured, Exome sequencing, Genetics, genetics [Drosophila melanogaster], High-Throughput Nucleotide Sequencing, Parkinson Disease, Genomics, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Mitochondria, ALZHEIMERS-DISEASE, Drosophila melanogaster, Whole-exome sequencing, genetics [alpha-Synuclein], alpha-Synuclein, genetics [Caenorhabditis elegans], RNA Interference, Adult, methods [High-Throughput Nucleotide Sequencing], NETWORK ANALYSIS, Adolescent, Biology, Loss-of-function, Young Adult, 03 medical and health sciences, α-synuclein, SDG 3 - Good Health and Well-being, ddc:570, Functional screening, Animals, Humans, Animal model, Genetic Predisposition to Disease, Allele, Caenorhabditis elegans, Parkin, RECEPTOR TYROSINE PHOSPHATASE, Research, RETROMER COMPLEX, Rare variants, Sequence Analysis, DNA, Human genetics, Retromer complex, DROSOPHILA MODEL, Disease Models, Animal, 030104 developmental biology, Case-Control Studies, Parkinson’s disease, CAENORHABDITIS-ELEGANS
Abstract: Background Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson’s disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated participants. To discover rare PD susceptibility variants, we performed WES in 1148 unrelated cases and 503 control participants. Candidate genes were subsequently validated for functions relevant to PD based on parallel RNA-interference (RNAi) screens in human cell culture and Drosophila and C. elegans models. Results Assuming autosomal recessive inheritance, we identify 27 genes that have homozygous or compound heterozygous loss-of-function variants in PD cases. Definitive replication and confirmation of these findings were hindered by potential heterogeneity and by the rarity of the implicated alleles. We therefore looked for potential genetic interactions with established PD mechanisms. Following RNAi-mediated knockdown, 15 of the genes modulated mitochondrial dynamics in human neuronal cultures and four candidates enhanced α-synuclein-induced neurodegeneration in Drosophila. Based on complementary analyses in independent human datasets, five functionally validated genes—GPATCH2L, UHRF1BP1L, PTPRH, ARSB, and VPS13C—also showed evidence consistent with genetic replication. Conclusions By integrating human genetic and functional evidence, we identify several PD susceptibility gene candidates for further investigation. Our approach highlights a powerful experimental strategy with broad applicability for future studies of disorders with complex genetic etiologies. Electronic supplementary material The online version of this article (doi:10.1186/s13059-017-1147-9) contains supplementary material, which is available to authorized users.
Published: 2017

124. Polymorphisms in the neuromyelitis optica auto-antigen AQP4 and susceptibility to multiple sclerosis

Author: Ban, Maria, Walton, Amie, Goris, An, Gray, Julia, Compston, Alastair, and Sawcer, Stephen
Published: 2007
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125. No evidence for association of the protein kinase C alpha gene with multiple sclerosis

Author: Ban, Maria, Maranian, Mel, Yeo, Tai Wai, Gray, Julia, Compston, Alastair, and Sawcer, Stephen
Published: 2005
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126. Interleukin 1 receptor antagonist (IL-1ra) in multiple sclerosis

Author: Feakes, Robert, Sawcer, Stephen, Broadley, Simon, Coraddu, Francesca, Roxburgh, Richard, Gray, Julia, Clayton, David, and Compston, Alastair
Published: 2000
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127. Four single nucleotide polymorphisms from the Vitamin D Receptor Gene in UK Multiple Sclerosis

Author: Yeo, Tai Wai, Maranian, Mel, Singlehurst, Sara, Gray, Julia, Compston, Alastair, and Sawcer, Stephen
Published: 2004
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128. Exploring rare and low-frequency variants in the Saguenay–Lac-Saint-Jean population identified genes associated with asthma and allergy traits

Author: Morin, Andréanne, primary, Madore, Anne-Marie, additional, Kwan, Tony, additional, Ban, Maria, additional, Partanen, Jukka, additional, Rönnblom, Lars, additional, Syvänen, Ann-Christine, additional, Sawcer, Stephen, additional, Stunnenberg, Hendrik, additional, Lathrop, Mark, additional, Pastinen, Tomi, additional, and Laprise, Catherine, additional
Published: 2018
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129. Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Author: Ruderfer, Douglas M., primary, Ripke, Stephan, additional, McQuillin, Andrew, additional, Boocock, James, additional, Stahl, Eli A., additional, Pavlides, Jennifer M. Whitehead, additional, Mullins, Niamh, additional, Charney, Alexander W., additional, Ori, Anil P.S., additional, Loohuis, Loes M. Olde, additional, Domenici, Enrico, additional, Di Florio, Arianna, additional, Papiol, Sergi, additional, Kalman, Janos L., additional, Trubetskoy, Vassily, additional, Adolfsson, Rolf, additional, Agartz, Ingrid, additional, Agerbo, Esben, additional, Akil, Huda, additional, Albani, Diego, additional, Albus, Margot, additional, Alda, Martin, additional, Alexander, Madeline, additional, Alliey-Rodriguez, Ney, additional, Als, Thomas D., additional, Amin, Farooq, additional, Anjorin, Adebayo, additional, Arranz, Maria J., additional, Awasthi, Swapnil, additional, Bacanu, Silviu A., additional, Badner, Judith A., additional, Baekvad-Hansen, Marie, additional, Bakker, Steven, additional, Band, Gavin, additional, Barchas, Jack D., additional, Barroso, Ines, additional, Bass, Nicholas, additional, Bauer, Michael, additional, Baune, Bernhard T., additional, Begemann, Martin, additional, Bellenguez, Celine, additional, Belliveau, Richard A., additional, Bellivier, Frank, additional, Bender, Stephan, additional, Bene, Judit, additional, Bergen, Sarah E., additional, Berrettini, Wade H., additional, Bevilacqua, Elizabeth, additional, Biernacka, Joanna M., additional, Bigdeli, Tim B., additional, Black, Donald W., additional, Blackburn, Hannah, additional, Blackwell, Jenefer M., additional, Blackwood, Douglas H.R., additional, Pedersen, Carsten Bocker, additional, Boehnke, Michael, additional, Boks, Marco, additional, Borglum, Anders D., additional, Bramon, Elvira, additional, Breen, Gerome, additional, Brown, Matthew A., additional, Bruggeman, Richard, additional, Buccola, Nancy G., additional, Buckner, Randy L., additional, Budde, Monika, additional, Bulik-Sullivan, Brendan, additional, Bumpstead, Suzannah J., additional, Bunney, William, additional, Burmeister, Margit, additional, Buxbaum, Joseph D., additional, Bybjerg-Grauholm, Jonas, additional, Byerley, William, additional, Cahn, Wiepke, additional, Cai, Guiqing, additional, Cairns, Murray J., additional, Campion, Dominique, additional, Cantor, Rita M., additional, Carr, Vaughan J., additional, Carrera, Noa, additional, Casas, Juan P., additional, Casas, Miquel, additional, Catts, Stanley V., additional, Cervantes, Pablo, additional, Chambert, Kimberley D., additional, Chan, Raymond C.K., additional, Chen, Eric Y.H., additional, Chen, Ronald Y.L., additional, Cheng, Wei, additional, Cheung, Eric F.C., additional, Chong, Siow Ann, additional, Clarke, Toni-Kim, additional, Cloninger, C. Robert, additional, Cohen, David, additional, Cohen, Nadine, additional, Coleman, Jonathan R.I., additional, Collier, David A., additional, Cormican, Paul, additional, Coryell, William, additional, Craddock, Nicholas, additional, Craig, David W., additional, Crespo-Facorro, Benedicto, additional, Crowley, James J., additional, Cruceanu, Cristiana, additional, Curtis, David, additional, Czerski, Piotr M., additional, Dale, Anders M., additional, Daly, Mark J., additional, Dannlowski, Udo, additional, Darvasi, Ariel, additional, Davidson, Michael, additional, Davis, Kenneth L., additional, de Leeuw, Christiaan A., additional, Degenhardt, Franziska, additional, Del Favero, Jurgen, additional, DeLisi, Lynn E., additional, Deloukas, Panos, additional, Demontis, Ditte, additional, DePaulo, J. Raymond, additional, di Forti, Marta, additional, Dikeos, Dimitris, additional, Dinan, Timothy, additional, Djurovic, Srdjan, additional, Dobbyn, Amanda L., additional, Donnelly, Peter, additional, Donohoe, Gary, additional, Drapeau, Elodie, additional, Dronov, Serge, additional, Duan, Jubao, additional, Dudbridge, Frank, additional, Duncanson, Audrey, additional, Edenberg, Howard, additional, Edkins, Sarah, additional, Ehrenreich, Hannelore, additional, Eichhammer, Peter, additional, Elvsashagen, Torbjorn, additional, Eriksson, Johan, additional, Escott-Price, Valentina, additional, Esko, Tonu, additional, Essioux, Laurent, additional, Etain, Bruno, additional, Fan, Chun Chieh, additional, Farh, Kai-How, additional, Farrell, Martilias S., additional, Flickinger, Matthew, additional, Foroud, Tatiana M., additional, Forty, Liz, additional, Frank, Josef, additional, Franke, Lude, additional, Fraser, Christine, additional, Freedman, Robert, additional, Freeman, Colin, additional, Freimer, Nelson B., additional, Friedman, Joseph I., additional, Fromer, Menachem, additional, Frye, Mark A., additional, Fullerton, Janice M., additional, Gade, Katrin, additional, Garnham, Julie, additional, Gaspar, Helena A., additional, Gejman, Pablo V., additional, Genovese, Giulio, additional, Georgieva, Lyudmila, additional, Giambartolomei, Claudia, additional, Giannoulatou, Eleni, additional, Giegling, Ina, additional, Gill, Michael, additional, Gillman, Matthew, additional, Pedersen, Marianne Giortz, additional, Giusti-Rodriguez, Paola, additional, Godard, Stephanie, additional, Goes, Fernando, additional, Goldstein, Jacqueline I., additional, Gopal, Srihari, additional, Gordon, Scott D., additional, Gordon-Smith, Katherine, additional, Gratten, Jacob, additional, Gray, Emma, additional, Green, Elaine K., additional, Green, Melissa J., additional, Greenwood, Tiffany A., additional, Grigoroiu-Serbanescu, Maria, additional, Grove, Jakob, additional, Guan, Weihua, additional, Gurling, Hugh, additional, Parra, Jose Guzman, additional, Gwilliam, Rhian, additional, de Haan, Lieuwe, additional, Hall, Jeremy, additional, Hall, Mei-Hua, additional, Hammer, Christian, additional, Hammond, Naomi, additional, Hamshere, Marian L., additional, Hansen, Mark, additional, Hansen, Thomas, additional, Haroutunian, Vahram, additional, Hartmann, Annette M., additional, Hauser, Joanna, additional, Hautzinger, Martin, additional, Heilbronner, Urs, additional, Hellenthal, Garrett, additional, Henskens, Frans A., additional, Herms, Stefan, additional, Hipolito, Maria, additional, Hirschhorn, Joel N., additional, Hoffmann, Per, additional, Hollegaard, Mads V., additional, Hougaard, David M., additional, Huang, Hailiang, additional, Huckins, Laura, additional, Hultman, Christina M., additional, Hunt, Sarah E., additional, Ikeda, Masashi, additional, Iwata, Nakao, additional, Iyegbe, Conrad, additional, Jablensky, Assen V., additional, Jamain, Stephane, additional, Jankowski, Janusz, additional, Jayakumar, Alagurevathi, additional, Joa, Inge, additional, Jones, Ian, additional, Jones, Lisa A., additional, Jonsson, Erik G., additional, Julia, Antonio, additional, Jureus, Anders, additional, Kahler, Anna K., additional, Kahn, Rene S., additional, Kalaydjieva, Luba, additional, Kandaswamy, Radhika, additional, Karachanak-Yankova, Sena, additional, Karjalainen, Juha, additional, Karlsson, Robert, additional, Kavanagh, David, additional, Keller, Matthew C., additional, Kelly, Brian J., additional, Kelsoe, John, additional, Kennedy, James L., additional, Khrunin, Andrey, additional, Kim, Yunjung, additional, Kirov, George, additional, Kittel-Schneider, Sarah, additional, Klovins, Janis, additional, Knight, Jo, additional, Knott, Sarah V., additional, Knowles, James A., additional, Kogevinas, Manolis, additional, Konte, Bettina, additional, Kravariti, Eugenia, additional, Kucinskas, Vaidutis, additional, Kucinskiene, Zita Ausrele, additional, Kupka, Ralph, additional, Kuzelova-Ptackova, Hana, additional, Landen, Mikael, additional, Langford, Cordelia, additional, Laurent, Claudine, additional, Lawrence, Jacob, additional, Lawrie, Stephen, additional, Lawson, William B., additional, Leber, Markus, additional, Leboyer, Marion, additional, Lee, Phil H., additional, Keong, Jimmy Lee Chee, additional, Legge, Sophie E., additional, Lencz, Todd, additional, Lerer, Bernard, additional, Levinson, Douglas F., additional, Levy, Shawn E., additional, Lewis, Cathryn M., additional, Li, Jun Z., additional, Li, Miaoxin, additional, Li, Qingqin S., additional, Li, Tao, additional, Liang, Kung-Yee, additional, Liddle, Jennifer, additional, Lieberman, Jeffrey, additional, Limborska, Svetlana, additional, Lin, Kuang, additional, Linszen, Don H., additional, Lissowska, Jolanta, additional, Liu, Chunyu, additional, Liu, Jianjun, additional, Lonnqvist, Jouko, additional, Loughland, Carmel M., additional, Lubinski, Jan, additional, Lucae, Susanne, additional, Macek, Milan, additional, MacIntyre, Donald J., additional, Magnusson, Patrik K.E., additional, Maher, Brion S., additional, Mahon, Pamela B., additional, Maier, Wolfgang, additional, Malhotra, Anil K., additional, Mallet, Jacques, additional, Malt, Ulrik F., additional, Markus, Hugh S., additional, Marsal, Sara, additional, Martin, Nicholas G., additional, Mata, Ignacio, additional, Mathew, Christopher G., additional, Mattheisen, Manuel, additional, Mattingsdal, Morten, additional, Mayoral, Fermin, additional, McCann, Owen T., additional, McCarley, Robert W., additional, McCarroll, Steven A., additional, McCarthy, Mark I., additional, McDonald, Colm, additional, McElroy, Susan L., additional, McGuffin, Peter, additional, McInnis, Melvin G., additional, McIntosh, Andrew M., additional, McKay, James D., additional, McMahon, Francis J., additional, Medeiros, Helena, additional, Medland, Sarah E., additional, Meier, Sandra, additional, Meijer, Carin J., additional, Melegh, Bela, additional, Melle, Ingrid, additional, Meng, Fan, additional, Mesholam-Gately, Raquelle I., additional, Metspalu, Andres, additional, Michie, Patricia T., additional, Milani, Lili, additional, Milanova, Vihra, additional, Mitchell, Philip B., additional, Mokrab, Younes, additional, Montgomery, Grant W., additional, Moran, Jennifer L., additional, Morken, Gunnar, additional, Morris, Derek W., additional, Mors, Ole, additional, Mortensen, Preben B., additional, Mowry, Bryan J., additional, Mühleisen, Thomas W., additional, Müller-Myhsok, Bertram, additional, Murphy, Kieran C., additional, Murray, Robin M., additional, Myers, Richard M., additional, Myin-Germeys, Inez, additional, Neale, Benjamin M., additional, Nelis, Mari, additional, Nenadic, Igor, additional, Nertney, Deborah A., additional, Nestadt, Gerald, additional, Nicodemus, Kristin K., additional, Nievergelt, Caroline M., additional, Nikitina-Zake, Liene, additional, Nimgaonkar, Vishwajit, additional, Nisenbaum, Laura, additional, Nordentoft, Merete, additional, Nordin, Annelie, additional, Nöthen, Markus M., additional, Nwulia, Evaristus A., additional, O’Callaghan, Eadbhard, additional, O’Donovan, Claire, additional, O’Dushlaine, Colm, additional, O’Neill, F. Anthony, additional, Oedegaard, Ketil J., additional, Oh, Sang-Yun, additional, Olincy, Ann, additional, Olsen, Line, additional, Oruc, Lilijana, additional, Van Os, Jim, additional, Owen, Michael J., additional, Paciga, Sara A., additional, Palmer, Colin N.A., additional, Palotie, Aarno, additional, Pantelis, Christos, additional, Papadimitriou, George N., additional, Parkhomenko, Elena, additional, Pato, Carlos, additional, Pato, Michele T., additional, Paunio, Tiina, additional, Pearson, Richard, additional, Perkins, Diana O., additional, Perlis, Roy H., additional, Perry, Amy, additional, Pers, Tune H., additional, Petryshen, Tracey L., additional, Pfennig, Andrea, additional, Picchioni, Marco, additional, Pietilainen, Olli, additional, Pimm, Jonathan, additional, Pirinen, Matti, additional, Plomin, Robert, additional, Pocklington, Andrew J., additional, Posthuma, Danielle, additional, Potash, James B., additional, Potter, Simon C., additional, Powell, John, additional, Price, Alkes, additional, Pulver, Ann E., additional, Purcell, Shaun M., additional, Quested, Digby, additional, Ramos-Quiroga, Josep Antoni, additional, Rasmussen, Henrik B., additional, Rautanen, Anna, additional, Ravindrarajah, Radhi, additional, Regeer, Eline J., additional, Reichenberg, Abraham, additional, Reif, Andreas, additional, Reimers, Mark A., additional, Ribases, Marta, additional, Rice, John P., additional, Richards, Alexander L., additional, Ricketts, Michelle, additional, Riley, Brien P., additional, Rivas, Fabio, additional, Rivera, Margarita, additional, Roffman, Joshua L., additional, Rouleau, Guy A., additional, Roussos, Panos, additional, Rujescu, Dan, additional, Salomaa, Veikko, additional, Sanchez-Mora, Cristina, additional, Sanders, Alan R., additional, Sawcer, Stephen J., additional, Schall, Ulrich, additional, Schatzberg, Alan F., additional, Scheftner, William A., additional, Schofield, Peter R., additional, Schork, Nicholas J., additional, Schwab, Sibylle G., additional, Scolnick, Edward M., additional, Scott, Laura J., additional, Scott, Rodney J., additional, Seidman, Larry J., additional, Serretti, Alessandro, additional, Sham, Pak C., additional, Weickert, Cynthia Shannon, additional, Shehktman, Tatyana, additional, Shi, Jianxin, additional, Shilling, Paul D., additional, Sigurdsson, Engilbert, additional, Silverman, Jeremy M., additional, Sim, Kang, additional, Slaney, Claire, additional, Slominsky, Petr, additional, Smeland, Olav B., additional, Smoller, Jordan W., additional, So, Hon-Cheong, additional, Sobell, Janet L., additional, Soderman, Erik, additional, Hansen, Christine Soholm, additional, Spencer, Chris C.A., additional, Spijker, Anne T., additional, St Clair, David, additional, Stefansson, Hreinn, additional, Stefansson, Kari, additional, Steinberg, Stacy, additional, Stogmann, Elisabeth, additional, Stordal, Eystein, additional, Strange, Amy, additional, Straub, Richard E., additional, Strauss, John S., additional, Streit, Fabian, additional, Strengman, Eric, additional, Strohmaier, Jana, additional, Stroup, T. Scott, additional, Su, Zhan, additional, Subramaniam, Mythily, additional, Suvisaari, Jaana, additional, Svrakic, Dragan M., additional, Szatkiewicz, Jin P., additional, Szelinger, Szabolcs, additional, Tashakkori-Ghanbaria, Avazeh, additional, Thirumalai, Srinivas, additional, Thompson, Robert C., additional, Thorgeirsson, Thorgeir E., additional, Toncheva, Draga, additional, Tooney, Paul A., additional, Tosato, Sarah, additional, Toulopoulou, Timothea, additional, Trembath, Richard C., additional, Treutlein, Jens, additional, Turecki, Gustavo, additional, Vaaler, Arne E., additional, Vedder, Helmut, additional, Vieta, Eduard, additional, Vincent, John, additional, Visscher, Peter M., additional, Viswanathan, Ananth C., additional, Vukcevic, Damjan, additional, Waddington, John, additional, Waller, Matthew, additional, Walsh, Dermot, additional, Walshe, Muriel, additional, Walters, James T.R., additional, Wang, Dai, additional, Wang, Qiang, additional, Wang, Weiqing, additional, Wang, Yunpeng, additional, Watson, Stanley J., additional, Webb, Bradley T., additional, Weickert, Thomas W., additional, Weinberger, Daniel R., additional, Weisbrod, Matthias, additional, Weiser, Mark, additional, Werge, Thomas, additional, Weston, Paul, additional, Whittaker, Pamela, additional, Widaa, Sara, additional, Wiersma, Durk, additional, Wildenauer, Dieter B., additional, Williams, Nigel M., additional, Williams, Stephanie, additional, Witt, Stephanie H., additional, Wolen, Aaron R., additional, Wong, Emily H.M., additional, Wood, Nicholas W., additional, Wormley, Brandon K., additional, Wu, Jing Qin, additional, Xi, Simon, additional, Xu, Wei, additional, Young, Allan H., additional, Zai, Clement C., additional, Zandi, Peter, additional, Zhang, Peng, additional, Zheng, Xuebin, additional, Zimprich, Fritz, additional, Zollner, Sebastian, additional, Corvin, Aiden, additional, Fanous, Ayman H., additional, Cichon, Sven, additional, Rietschel, Marcella, additional, Gershon, Elliot S., additional, Schulze, Thomas G., additional, Cuellar-Barboza, Alfredo B., additional, Forstner, Andreas J., additional, Holmans, Peter A., additional, Nurnberger, John I., additional, Andreassen, Ole A., additional, Lee, S. Hong, additional, O’Donovan, Michael C., additional, Sullivan, Patrick F., additional, Ophoff, Roel A., additional, Wray, Naomi R., additional, Sklar, Pamela, additional, and Kendler, Kenneth S., additional
Published: 2018
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130. Effect of Age at Puberty on Risk of Multiple Sclerosis: A Mendelian Randomization Study (S47.002)

Author: Harroud, Adil, primary, Morris, John A., additional, Forgetta, Vincenzo, additional, Mitchell, Ruth, additional, Smith, George Davey, additional, Sawcer, Stephen, additional, and Richards, J. Brent, additional
Published: 2018
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131. Distinct Effects of Obesity and Vitamin D on Risk of Multiple Sclerosis: A Mendelian Randomization Study (P2.351)

Author: Harroud, Adil, primary, Morris, John A., additional, Manousaki, Despoina, additional, Forgetta, Vincenzo, additional, Mitchell, Ruth, additional, Smith, George Davey, additional, Sawcer, Stephen, additional, and Richards, J. Brent, additional
Published: 2018
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132. No evidence for association of multiple sclerosis with the complement factors C6 and C7

Author: Chataway, Jeremy, Sawcer, Stephen, Sherman, David, Hobart, Michael, Fernie, Barbara, Coraddu, Francesca, Feakes, Robert, Broadley, Simon, Gray, Julia, Jones, Hywel B, Clayton, David, Goodfellow, Peter N, and Compston, Alastair
Published: 1999
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133. A screen of candidates from peaks of linkage: evidence for the involvement of myeloperoxidase in multiple sclerosis

Author: Chataway, Jeremy, Sawcer, Stephen, Feakes, Robert, Coraddu, Francesca, Broadley, Simon, Jones, Hywel B, Clayton, David, Gray, Julia, Goodfellow, Peter N, and Compston, Alastair
Published: 1999
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134. Genome-wide estimates of inbreeding in unrelated individuals and their association with cognitive ability

Author: Power, Robert A, Nagoshi, Craig, DeFries, John C, Donnelly, Peter, Barroso, Ines, Blackwell, Jenefer M, Bramon, Elvira, Brown, Matthew A, Casas, Juan P, Corvin, Aiden, Deloukas, Panos, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S, Mathew, Christopher G, Palmer, Colin NA, Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J, Trembath, Richard C, Viswanathan, Ananth C, Wood, Nicholas W, Spencer, Chris C A, Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Pirinen, Matti, Pearson, Richard, Strange, Amy, 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, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, Sara, and Whittaker, Pamela
Subjects: Adult, Male, Intelligence, Population, Genome-wide association study, Single-nucleotide polymorphism, Biology, Runs of Homozygosity, Polymorphism, Single Nucleotide, Article, Consanguinity, 03 medical and health sciences, Cognition, 0302 clinical medicine, Genetics, Humans, Child, education, Genetic Association Studies, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, Genome, Human, Homozygote, Assortative mating, Minor allele frequency, Case-Control Studies, Female, Inbreeding, 030217 neurology & neurosurgery
Abstract: The consequence of reduced cognitive ability from inbreeding has long been investigated, mainly restricted to cousin-cousin marriages. Molecular genetic techniques now allow us to test the relationship between increased ancestral inbreeding and cognitive ability in a population of traditionally unrelated individuals. In a representative UK sample of 2329 individuals, we used genome-wide SNP data to estimate the percentage of the genome covered by runs of homozygous SNPs (ROH). This was tested for association with general cognitive ability, as well as measures of verbal and non-verbal ability. Further, association was tested between these traits and specific ROH. Burden of ROH was not associated with cognitive ability after correction for multiple testing, although burden of ROH was nominally associated with increased non-verbal cognitive ability (P=0.03). Moreover, although no individual ROH was significantly associated with cognitive ability, there was a significant bias towards increased cognitive ability in carriers of ROH (P=0.002). A potential explanation for these results is increased positive assortative mating in spouses with higher cognitive ability, although we found no evidence in support of this hypothesis in a separate sample. Reduced minor allele frequency across the genome was associated with higher cognitive ability, which could contribute to an apparent increase in ROH. This may reflect minor alleles being more likely to be deleterious.
Published: 2013

135. MiR-137-derived polygenic risk: effects on cognitive performance in patients with schizophrenia and controls

Author: Broad Institute of MIT and Harvard, Petryshen, Tracey, Cosgrove, D, Harold, D, Mothersill, O, Anney, R, Hill, M J, Bray, N J, Blokland, G, Donnelly, Peter, Bates, Lesley, Barroso, Ines, Blackwell, Jenefer M, Bramon, Elvira, 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, Wood, Nicholas W, Spencer, Chris C A, Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Hopkins, Lucinda, Pirinen, Matti, Pearson, Richard, Strange, Amy, 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, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, SaraWidaa, Whittaker, Pamela, Richards, A, Mantripragada, K, Owen, M, O'Donovan, M C, Gill, M, Corvin, A, Morris, D W, Donohoe, G, Broad Institute of MIT and Harvard, Petryshen, Tracey, Cosgrove, D, Harold, D, Mothersill, O, Anney, R, Hill, M J, Bray, N J, Blokland, G, Donnelly, Peter, Bates, Lesley, Barroso, Ines, Blackwell, Jenefer M, Bramon, Elvira, 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, Wood, Nicholas W, Spencer, Chris C A, Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Hopkins, Lucinda, Pirinen, Matti, Pearson, Richard, Strange, Amy, 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, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, SaraWidaa, Whittaker, Pamela, Richards, A, Mantripragada, K, Owen, M, O'Donovan, M C, Gill, M, Corvin, A, Morris, D W, and Donohoe, G
Abstract: Variants at microRNA-137 (MIR137), one of the most strongly associated schizophrenia risk loci identified to date, have been associated with poorer cognitive performance. As microRNA-137 is known to regulate the expression of ~1900 other genes, including several that are independently associated with schizophrenia, we tested whether this gene set was also associated with variation in cognitive performance. Our analysis was based on an empirically derived list of genes whose expression was altered by manipulation of MIR137 expression. This list was cross-referenced with genome-wide schizophrenia association data to construct individual polygenic scores. We then tested, in a sample of 808 patients and 192 controls, whether these risk scores were associated with altered performance on cognitive functions known to be affected in schizophrenia. A subgroup of healthy participants also underwent functional imaging during memory (n=108) and face processing tasks (n=83). Increased polygenic risk within the empirically derived miR-137 regulated gene score was associated with significantly lower performance on intelligence quotient, working memory and episodic memory. These effects were observed most clearly at a polygenic threshold of P=0.05, although significant results were observed at all three thresholds analyzed. This association was found independently for the gene set as a whole, excluding the schizophrenia-associated MIR137 SNP itself. Analysis of the spatial working memory fMRI task further suggested that increased risk score (thresholded at P=10−5) was significantly associated with increased activation of the right inferior occipital gyrus. In conclusion, these data are consistent with emerging evidence that MIR137 associated risk for schizophrenia may relate to its broader downstream genetic effects.
Published: 2017

136. MiR-137-derived polygenic risk: effects on cognitive performance in patients with schizophrenia and controls

Author: Cosgrove, D, Harold, D, Mothersill, O, Anney, Richard, Hill, Martin, Bray, Nicholas, Blokland, G, Petryshen, T, Donnelly, Peter, Bates, Lesley, Barroso, Ines, Blackwell, Jenefer M, Bramon, Elvira, 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, Wood, Nicholas W, Spencer, Chris C A, Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Hopkins, Lucinda, Pirinen, Matti, Pearson, Richard, Strange, Amy, 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, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, PaulWeston, Widaa, SaraWidaa, Whittaker, Pamela, Richards, Alexander, Mantripragada, Kiran, Owen, Michael, O'Donovan, Michael, Gill, M, Corvin, A, Morris, D W, Donohoe, G, Broad Institute of MIT and Harvard, and Petryshen, Tracey
Subjects: 0301 basic medicine, Adult, Male, Multifactorial Inheritance, Memory, Episodic, BF, Bioinformatics, Spatial memory, Polymorphism, Single Nucleotide, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Cognition, Memory, Task Performance and Analysis, medicine, Humans, Effects of sleep deprivation on cognitive performance, Episodic memory, Biological Psychiatry, Intelligence quotient, Working memory, Memoria, Functional Neuroimaging, Brain, Middle Aged, medicine.disease, R1, Magnetic Resonance Imaging, Psychiatry and Mental health, MicroRNAs, 030104 developmental biology, Memory, Short-Term, Schizophrenia, Case-Control Studies, Original Article, Female, Schizophrenic Psychology, Psychology, Facial Recognition, 030217 neurology & neurosurgery, Clinical psychology
Abstract: Variants at microRNA-137 (MIR137), one of the most strongly associated schizophrenia risk loci identified to date, have been associated with poorer cognitive performance. As microRNA-137 is known to regulate the expression of ~1900 other genes, including several that are independently associated with schizophrenia, we tested whether this gene set was also associated with variation in cognitive performance. Our analysis was based on an empirically derived list of genes whose expression was altered by manipulation of MIR137 expression. This list was cross-referenced with genome-wide schizophrenia association data to construct individual polygenic scores. We then tested, in a sample of 808 patients and 192 controls, whether these risk scores were associated with altered performance on cognitive functions known to be affected in schizophrenia. A subgroup of healthy participants also underwent functional imaging during memory (n=108) and face processing tasks (n=83). Increased polygenic risk within the empirically derived miR-137 regulated gene score was associated with significantly lower performance on intelligence quotient, working memory and episodic memory. These effects were observed most clearly at a polygenic threshold of P=0.05, although significant results were observed at all three thresholds analyzed. This association was found independently for the gene set as a whole, excluding the schizophrenia-associated MIR137 SNP itself. Analysis of the spatial working memory fMRI task further suggested that increased risk score (thresholded at P=10−5) was significantly associated with increased activation of the right inferior occipital gyrus. In conclusion, these data are consistent with emerging evidence that MIR137 associated risk for schizophrenia may relate to its broader downstream genetic effects.
Published: 2016

137. Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins

Author: Postmus, Iris, Trompet, Stella, Deshmukh, Harshal A., Barnes, Michael R., Li, Xiaohui, Warren, Helen R., Chasman, Daniel I., Zhou, Kaixin, Arsenault, Benoit J., Donnelly, Louise A., Wiggins, Kerri L., Avery, Christy L., Griffin, Paula, Feng, QiPing, Taylor, Kent D., Li, Guo, Evans, Daniel S., Smith, Albert V., de Keyser, Catherine E., Johnson, Andrew D., de Craen, Anton J.M., Stott, David J., Buckley, Brendan M., Ford, Ian, Westendorp, Rudi G. J., Eline Slagboom, P., Sattar, Naveed, Munroe, Patricia B., Sever, Peter, Poulter, Neil, Stanton, Alice, Shields, Denis C., O’Brien, Eoin, Shaw-Hawkins, Sue, Ida Chen, Y.-D., Nickerson, Deborah A., Smith, Joshua D., Pierre Dubé, Marie, Matthijs Boekholdt, S., Kees Hovingh, G., Kastelein, John J.P., McKeigue, Paul M., Betteridge, John, Neil, Andrew, Durrington, Paul N., Doney, Alex, Carr, Fiona, Morris, Andrew, McCarthy, Mark I., Groop, Leif, Ahlqvist, Emma, Bis, Joshua C., Rice, Kenneth, Smith, Nicholas L., Lumley, Thomas, Whitsel, Eric A., Stürmer, Til, Boerwinkle, Eric, Ngwa, Julius S., O’Donnell, Christopher J., Vasan, Ramachandran S., Wei, Wei-Qi, Wilke, Russell A., Liu, Ching-Ti, Sun, Fangui, Guo, Xiuqing, Heckbert, Susan R, Post, Wendy, Sotoodehnia, Nona, Arnold, Alice M., Stafford, Jeanette M., Ding, Jingzhong, Herrington, David M., Kritchevsky, Stephen B., Eiriksdottir, Gudny, Launer, Leonore J., Harris, Tamara B., Chu, Audrey Y., Giulianini, Franco, MacFadyen, Jean G., Barratt, Bryan J., Nyberg, Fredrik, Stricker, Bruno H., Uitterlinden, André G., Hofman, Albert, Rivadeneira, Fernando, Emilsson, Valur, Franco, Oscar H., Ridker, Paul M., Gudnason, Vilmundur, Liu, Yongmei, Denny, Joshua C., Ballantyne, Christie M., Rotter, Jerome I., Adrienne Cupples, L., Psaty, Bruce M., Palmer, Colin N.A., Tardif, Jean-Claude, Colhoun, Helen M., Hitman, Graham, Krauss, Ronald M., Wouter Jukema, J, Caulfield, Mark J., Donnelly, Peter, Barroso, Ines, Blackwell, Jenefer M., Bramon, Elvira, Brown, Matthew A., Casas, Juan P., Corvin, Aiden, Deloukas, Panos, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S., Mathew, Christopher G., Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J., Trembath, Richard C., Viswanathan, Ananth C., Wood, Nicholas W., Spencer, Chris C.A., Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Pirinen, Matti, Pearson, Richard, Strange, Amy, 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, Potter, Simon C., Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, Sara, Whittaker, Pamela, Erasmus MC other, Epidemiology, Internal Medicine, ACS - Amsterdam Cardiovascular Sciences, Cardiology, and Vascular Medicine
Subjects: Apolipoprotein E, BLOOD, LOCI, General Physics and Astronomy, Genome-wide association study, VARIANTS, 030204 cardiovascular system & hematology, Pharmacology, Bioinformatics, THERAPY, DISEASE, chemistry.chemical_compound, 0302 clinical medicine, GENE-EXPRESSION, 0303 health sciences, Multidisciplinary, biology, 3. Good health, Multidisciplinary Sciences, Meta-analysis, WHOLE-GENOME, Science & Technology - Other Topics, lipids (amino acids, peptides, and proteins), Statin, medicine.drug_class, Endocrinology and Diabetes, Polymorphism, Single Nucleotide, INDUCED MYOPATHY, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, medicine, Humans, cardiovascular diseases, 030304 developmental biology, Genetic association, Science & Technology, Cholesterol, business.industry, HUMAN PREFRONTAL CORTEX, nutritional and metabolic diseases, General Chemistry, Cholesterol, LDL, A300, chemistry, Pharmacogenetics, biology.protein, PLASMA LIPOPROTEIN(A) LEVELS, Hydroxymethylglutaryl-CoA Reductase Inhibitors, SLCO1B1, business, Genome-Wide Association Study
Abstract: Statins effectively lower LDL cholesterol levels in large studies and the observed interindividual response variability may be partially explained by genetic variation. Here we perform a pharmacogenetic meta-analysis of genome-wide association studies (GWAS) in studies addressing the LDL cholesterol response to statins, including up to 18,596 statin-treated subjects. We validate the most promising signals in a further 22,318 statin recipients and identify two loci, SORT1/CELSR2/PSRC1 and SLCO1B1, not previously identified in GWAS. Moreover, we confirm the previously described associations with APOE and LPA. Our findings advance the understanding of the pharmacogenetic architecture of statin response., Statins are effectively used to prevent and manage cardiovascular disease, but patient response to these drugs is highly variable. Here, the authors identify two new genes associated with the response of LDL cholesterol to statins and advance our understanding of the genetic basis of drug response.
Published: 2016

138. Genetic comorbidities in Parkinson's disease

Author: Nalls, Mike A, Saad, Mohamad, Morris, Huw R, Mudanohwo, Ese, O'Sullivan, Sean S, Pearson, Justin, Perlmutter, Joel S, Pétursson, Hjörvar, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Williams, Nigel, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Sidransky, Ellen, Gasser, Thomas, Smith, Colin, Spencer, Chris C A, Stefánsson, Hreinn, Steinberg, Stacy, Stockton, Joanna D, Strange, Amy, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Heutink, Peter, Trabzuni, Daniah, Traynor, Bryan J, Uitterlinden, André G, Velseboer, Daan, Vidailhet, Marie, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams-Gray, Caroline H, Wood, Nick, Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Hardy, John, Brice, Alexis, Singleton, Andrew B, Wood, Nicholas W, Donnelly, Peter, Barroso, Ines, Blackwell, Jenefer M, Bramon, Elvira, Brown, Matthew A, Casas, Juan P, Corvin, Aiden, Deloukas, Panos, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S, Mathew, Christopher G, Palmer, N. A., Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J, Trembath, Richard C, Viswanathan, Ananth C, Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Pirinen, Matti, Pearson, Richard, Su, Zhan, Vukcevic, Damjan, Consortium, International Parkinson's Disease Genomics, Langford, Cordelia, Hunt, Sarah E, Edkins, Sarah, Gwilliam, Rhian, Blackburn, Hannah, Bumpstead, Suzannah J, Dronov, Serge, Gillman, Matthew, Gray, Emma, Hammond, Naomi, 2, Wellcome Trust Case Control Consortium, Jayakumar, Alagurevathi, McCann, Owen T, Liddle, Jennifer, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, Sara, Whittaker, Pamela, Noyce, Alastair J, Consortium, North American Brain Expression, McCarthy, Mark I, Cookson, Mark R, Consortium, United Kingdom Brain Expression, Gibbs, J Raphael, Hernandez, Dena G, Dillman, Allissa, Nalls, Michael A, Zonderman, Alan B, Arepalli, Sampath, Ferrucci, Luigi, Johnson, Robert, Longo, Dan L, O'Brien, Richard, Nalls, Mike, Traynor, Bryan, Troncoso, Juan, van der Brug, Marcel, Zielke, Ronald H, Weale, Michael E, Ramasamy, Adaikalavan, Plagnol, Vincent, Walker, Rober, Sharma, Manu, Sheerin, Una-Marie, Simón-Sánchez, Javier, Schulte, Claudia, Keller, Margaux F, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Barker, Roger, Ben-Shlomo, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob M A, Biffi, Alessandro, Schrag, Anette, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F, Bestwick, Jonathan P, Chong, Sean, Clarke, Carl E, Cooper, J Mark, Corvol, Jean Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deuschl, Günther, Dexter, David T, van Dijk, Karin D, Durif, Frank, Dürr, Alexandra, Evans, Jonathan R, Foltynie, Thomas, Gao, Jianjun, Gardner, Michelle, Goate, Alison, Guerreiro, Rita, Gústafsson, Ómar, 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, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morrison, Karen E, ANS - Amsterdam Neuroscience, Neurology, Graduate School, and Erasmus MC other
Subjects: genetics [Crohn Disease], epidemiology [Schizophrenia], Single-nucleotide polymorphism, Genome-wide association study, Disease, Comorbidity, Biology, Bioinformatics, Inflammatory bowel disease, Polymorphism, Single Nucleotide, Crohn Disease, genetics [Parkinson Disease], Risk Factors, ddc:570, Mendelian randomization, mental disorders, Genetics, medicine, Humans, Genetic Predisposition to Disease, genetics [Schizophrenia], Molecular Biology, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical), Genetic association, epidemiology [Crohn Disease], Association Studies Articles, Parkinson Disease, General Medicine, DNA Methylation, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, Schizophrenia, CpG Islands, epidemiology [Parkinson Disease], Genome-Wide Association Study
Abstract: Parkinson's disease (PD) has a number of known genetic risk factors. Clinical and epidemiological studies have suggested the existence of intermediate factors that may be associated with additional risk of PD. We construct genetic risk profiles for additional epidemiological and clinical factors using known genome-wide association studies (GWAS) loci related to these specific phenotypes to estimate genetic comorbidity in a systematic review. We identify genetic risk profiles based on GWAS variants associated with schizophrenia and Crohn's disease as significantly associated with risk of PD. Conditional analyses adjusting for SNPs near loci associated with PD and schizophrenia or PD and Crohn's disease suggest that spatially overlapping loci associated with schizophrenia and PD account for most of the shared comorbidity, while variation outside of known proximal loci shared by PD and Crohn's disease accounts for their shared genetic comorbidity. We examine brain methylation and expression signatures proximal to schizophrenia and Crohn's disease loci to infer functional changes in the brain associated with the variants contributing to genetic comorbidity. We compare our results with a systematic review of epidemiological literature, while the findings are dissimilar to a degree; marginal genetic associations corroborate the directionality of associations across genetic and epidemiological data. We show a strong genetically defined level of comorbidity between PD and Crohn's disease as well as between PD and schizophrenia, with likely functional consequences of associated variants occurring in brain.
Published: 2014

139. Additional file 1: Table S1. of Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells

Author: AndrĂŠanne Morin, Kwan, Tony, Ge, Bing, Letourneau, Louis, Ban, Maria, Tandre, Karolina, Caron, Maxime, Sandling, Johanna, Carlsson, Jonas, Bourque, Guillaume, Laprise, Catherine, Montpetit, Alexandre, Ann-Christine Syvanen, Ronnblom, Lars, Sawcer, Stephen, Lathrop, Mark, and Pastinen, Tomi
Abstract: Cell type selected to target regulatory regions in immune cells. Table S2. Cell types selected to target regulatory regions in other cell types not related to immune function. Table S3. Summary of shared common, rare and novel variants in selected DHS regions of different immune cells. Table S4. Sequencing statistics of the Cambridge Multiple sclerosis samples with Immunoseq. Figure S1. Variants quality control. Figure S2. Comparing sequencing data for NA18502 sample (Complete Genomics data and Immunoseq) considering only heterozygous SNVs identified by Complete Genomics that fall within Immunoseq custom capture panel regions. Figure S3. ImmunoChip hits that falls into Immunoseq custom capture panel. Figure S4. Discovery set distribution of allele specific expression (ASE). Figure S5. Average number of SNPs used to calculate allele specific expression (ASE) in discovery set samples. Figure S6. Adjusted proportion of transcripts with common (red), rare (blue) or novel (green) noncoding variants in the vicinity (+/-20kb) of a gene based on different allelic imbalance: 1.5 to 9, 2 to 9, 2.5 to 9, 3 to 9 and 3.5 to 9 fold difference in the discovery set. Figure S7. Discovery set distribution of Allelic imbalance (AI). Figure S8. Enrichment of proportion of AI transcripts with rare or novel variants in vicinity of a gene compared to AI transcripts with common variants in vicinity of a gene in the discovery set. Figure S9. Fold difference between proportions of AI transcripts with rare or novel variants in vicinity compared to AI transcripts with common variants in vicinity in the discovery set. Figure S10. Enrichment between proportions of AI transcripts with rare or novel variants in vicinity compared to AI transcripts with common variants in vicinity in the discovery set. Figure S11. Replication set distribution of allele specific expression (ASE). Figure S12. Average number of SNPs used to calculate allele specific expression (ASE) in the replication set. Figure S13. Distribution of allele specific expression of all transcripts and transcripts that did not carry the common allele in a heterozygous state. Figure S14. Replication set distribution of Allelic Imbalance (AI). Figure S15. Enrichment between proportions of AI transcripts with rare or novel variants in vicinity compared to AI transcripts with common variants in vicinity in the discovery and replication set. Figure S16. Enrichment between proportions of AI transcripts with rare or novel variants in vicinity compared to AI transcripts with common variants in vicinity in the replication set. (DOCX 1.61Â mb)
Published: 2016
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140. Fundamentals of neurology. An illustrated guide

Author: Sawcer, Stephen
Published: 2006
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141. Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

Author: Nejentsev, Sergey, Howson, Joanna M. M., Walker, Neil M., Szeszko, Jeffrey, Field, Sarah F., Stevens, Helen E., Reynolds, Pamela, Hardy, Matthew, King, Erna, Masters, Jennifer, Hulme, John, Maier, Lisa M., Smyth, Deborah, Bailey, Rebecca, Cooper, Jason D., Ribas, Gloria, Campbell, R. Duncan, Clayton, David G., Todd, John A., Burton, Paul R., Cardon, Lon R., Craddock, Nick, Deloukas, Panos, Duncanson, Audrey, Kwiatkowski, Dominic P., McCarthy, Mark I., Ouwehand, Willem H., Samani, Nilesh J., Donnelly, Peter, Barrett, Jeffrey C., Davison, Dan, Easton, Doug, Evans, David, Leung, Hin-Tak, Marchini, Jonathan L., Morris, Andrew P., Spencer, Chris C. A., Tobin, Martin D., Attwood, Antony P., Boorman, James P., Cant, Barbara, Everson, Ursula, Hussey, Judith M., Jolley, Jennifer D., Knight, Alexandra S., Koch, Kerstin, Meech, Elizabeth, Nutland, Sarah, Prowse, Christopher V., Taylor, Niall C., Walters, Graham R., Watkins, Nicholas A., Winzer, Thilo, Jones, Richard W., McArdle, Wendy L., Ring, Susan M., Strachan, David P., Pembrey, Marcus, Breen, Gerome, St Clair, David, Caesar, Sian, Gordon-Smith, Katherine, Jones, Lisa, Fraser, Christine, Green, Elaine K., Grozeva, Detelina, Hamshere, Marian L., Holmans, Peter A., Jones, Ian R., Kirov, George, Moskvina, Valentina, Nikolov, Ivan, O'Donovan, Michael C., Owen, Michael J., Collier, David A., Elkin, Amanda, Farmer, Anne, Williamson, Richard, McGuffin, Peter, Young, Allan H., Nicol Ferrier, I., Ball, Stephen G., Balmforth, Anthony J., Barrett, Jennifer H., Bishop, D. Timothy, Iles, Mark M., Maqbool, Azhar, Yuldasheva, Nadira, Hall, Alistair S., Braund, Peter S., Dixon, Richard J., Mangino, Massimo, Stevens, Suzanne, Thompson, John R., Bredin, Francesca, Tremelling, Mark, Parkes, Miles, Drummond, Hazel, Lees, Charles W., Nimmo, Elaine R., Satsangi, Jack, Fisher, Sheila A., Forbes, Alastair, Lewis, Cathryn M., Onnie, Clive M., Prescott, Natalie J., Sanderson, Jeremy, Mathew, Christopher G., Barbour, Jamie, Khalid Mohiuddin, M., Todhunter, Catherine E., Mansfield, John C., Ahmad, Tariq, Cummings, Fraser R., Jewell, Derek P., Webster, John, Brown, Morris J., Lathrop, G. Mark, Connell, John, Dominiczak, Anna, Braga, Carolina A., Burke, Beverley, Dobson, Richard, Gungadoo, Johannie, Lee, Kate L., Munroe, Patricia B., Newhouse, Stephen J., Onipinla, Abiodun, Wallace, Chris, Xue, Mingzhan, Caulfield, Mark, Farrall, Martin, Barton, Anne, Bruce, Ian N., Donovan, Hannah, Eyre, Steve, Gilbert, Paul D., Hider, Samantha L., Hinks, Anne M., John, Sally L., Potter, Catherine, Silman, Alan J., Symmons, Deborah P. M., Thomson, Wendy, Worthington, Jane, Dunger, David B., Widmer, Barry, Frayling, Timothy M., Freathy, Rachel M., Lango, Hana, Perry, John R. B., Shields, Beverley M., Weedon, Michael N., Hattersley, Andrew T., Hitman, Graham A., Walker, Mark, Elliott, Kate S., Groves, Christopher J., Lindgren, Cecilia M., Rayner, Nigel W., Timpson, Nicholas J., Zeggini, Eleftheria, Newport, Melanie, Sirugo, Giorgio, Lyons, Emily, Vannberg, Fredrik, Hill, Adrian V. S., Bradbury, Linda A., Farrar, Claire, Pointon, Jennifer J., Wordsworth, Paul, Brown, Matthew A., Franklyn, Jayne A., Heward, Joanne M., Simmonds, Matthew J., Gough, Stephen C. L., Seal, Sheila, Stratton, Michael R., Rahman, Nazneen, Ban, Maria, Goris, An, Sawcer, Stephen J., Compston, Alastair, Conway, David, Jallow, Muminatou, Rockett, Kirk A., Bryan, Claire, Bumpstead, Suzannah J., Chaney, Amy, Downes, Kate, Ghori, Jilur, Gwilliam, Rhian, Hunt, Sarah E., Inouye, Michael, Keniry, Andrew, King, Emma, McGinnis, Ralph, Potter, Simon, Ravindrarajah, Rathi, Whittaker, Pamela, Withers, David, Cardin, Niall J., Ferreira, Teresa, Pereira-Gale, Joanne, Hallgrimsdottir, Ingeleif B., Howie, Bryan N., Su, Zhan, Ying Teo, Yik, Vukcevic, Damjan, Bentley, David, and Compston, Alistair
Subjects: Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract: Author(s): Sergey Nejentsev [1, 57]; Joanna M. M. Howson (corresponding author) [1, 57]; Neil M. Walker [1]; Jeffrey Szeszko [1]; Sarah F. Field [1]; Helen E. Stevens [1]; Pamela Reynolds [...]
Published: 2007
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142. Overexpression of the Cytokine BAFF and Autoimmunity Risk

Author: Steri, Maristella, primary, Orrù, Valeria, additional, Idda, M. Laura, additional, Pitzalis, Maristella, additional, Pala, Mauro, additional, Zara, Ilenia, additional, Sidore, Carlo, additional, Faà, Valeria, additional, Floris, Matteo, additional, Deiana, Manila, additional, Asunis, Isadora, additional, Porcu, Eleonora, additional, Mulas, Antonella, additional, Piras, Maria G., additional, Lobina, Monia, additional, Lai, Sandra, additional, Marongiu, Mara, additional, Serra, Valentina, additional, Marongiu, Michele, additional, Sole, Gabriella, additional, Busonero, Fabio, additional, Maschio, Andrea, additional, Cusano, Roberto, additional, Cuccuru, Gianmauro, additional, Deidda, Francesca, additional, Poddie, Fausto, additional, Farina, Gabriele, additional, Dei, Mariano, additional, Virdis, Francesca, additional, Olla, Stefania, additional, Satta, Maria A., additional, Pani, Mario, additional, Delitala, Alessandro, additional, Cocco, Eleonora, additional, Frau, Jessica, additional, Coghe, Giancarlo, additional, Lorefice, Lorena, additional, Fenu, Giuseppe, additional, Ferrigno, Paola, additional, Ban, Maria, additional, Barizzone, Nadia, additional, Leone, Maurizio, additional, Guerini, Franca R., additional, Piga, Matteo, additional, Firinu, Davide, additional, Kockum, Ingrid, additional, Lima Bomfim, Izaura, additional, Olsson, Tomas, additional, Alfredsson, Lars, additional, Suarez, Ana, additional, Carreira, Patricia E., additional, Castillo-Palma, Maria J., additional, Marcus, Joseph H., additional, Congia, Mauro, additional, Angius, Andrea, additional, Melis, Maurizio, additional, Gonzalez, Antonio, additional, Alarcón Riquelme, Marta E., additional, da Silva, Berta M., additional, Marchini, Maurizio, additional, Danieli, Maria G., additional, Del Giacco, Stefano, additional, Mathieu, Alessandro, additional, Pani, Antonello, additional, Montgomery, Stephen B., additional, Rosati, Giulio, additional, Hillert, Jan, additional, Sawcer, Stephen, additional, D’Alfonso, Sandra, additional, Todd, John A., additional, Novembre, John, additional, Abecasis, Gonçalo R., additional, Whalen, Michael B., additional, Marrosu, Maria G., additional, Meloni, Alessandra, additional, Sanna, Serena, additional, Gorospe, Myriam, additional, Schlessinger, David, additional, Fiorillo, Edoardo, additional, Zoledziewska, Magdalena, additional, and Cucca, Francesco, additional
Published: 2017
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143. Population- and individual-specific regulatory variation in Sardinia

Author: Pala, Mauro, primary, Zappala, Zachary, additional, Marongiu, Mara, additional, Li, Xin, additional, Davis, Joe R, additional, Cusano, Roberto, additional, Crobu, Francesca, additional, Kukurba, Kimberly R, additional, Gloudemans, Michael J, additional, Reinier, Frederic, additional, Berutti, Riccardo, additional, Piras, Maria G, additional, Mulas, Antonella, additional, Zoledziewska, Magdalena, additional, Marongiu, Michele, additional, Sorokin, Elena P, additional, Hess, Gaelen T, additional, Smith, Kevin S, additional, Busonero, Fabio, additional, Maschio, Andrea, additional, Steri, Maristella, additional, Sidore, Carlo, additional, Sanna, Serena, additional, Fiorillo, Edoardo, additional, Bassik, Michael C, additional, Sawcer, Stephen J, additional, Battle, Alexis, additional, Novembre, John, additional, Jones, Chris, additional, Angius, Andrea, additional, Abecasis, Gonçalo R, additional, Schlessinger, David, additional, Cucca, Francesco, additional, and Montgomery, Stephen B, additional
Published: 2017
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144. Age Related Multiple Sclerosis Severity Score: Disability ranked by age

Author: Manouchehrinia, Ali, primary, Westerlind, Helga, additional, Kingwell, Elaine, additional, Zhu, Feng, additional, Carruthers, Robert, additional, Ramanujam, Ryan, additional, Ban, Maria, additional, Glaser, Anna, additional, Sawcer, Stephen, additional, Tremlett, Helen, additional, and Hillert, Jan, additional
Published: 2017
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145. Large differences in adiponectin levels have no clear effect on multiple sclerosis risk: A Mendelian randomization study

Author: Devorak, Julia, primary, Mokry, Lauren E, additional, Morris, John A, additional, Forgetta, Vincenzo, additional, Davey Smith, George, additional, Sawcer, Stephen, additional, and Richards, J Brent, additional
Published: 2016
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146. 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

147. Immunoseq : the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells

Author: Morin, Andreanne, Kwan, Tony, Ge, Bing, Letourneau, Louis, Ban, Maria, Tandre, Karolina, Caron, Maxime, Sandling, Johanna K., Carlsson, Jonas, Bourque, Guillaume, Laprise, Catherine, Montpetit, Alexandre, Syvänen, Ann-Christine, Rönnblom, Lars, Sawcer, Stephen J., Lathrop, Mark G., Pastinen, Tomi, Morin, Andreanne, Kwan, Tony, Ge, Bing, Letourneau, Louis, Ban, Maria, Tandre, Karolina, Caron, Maxime, Sandling, Johanna K., Carlsson, Jonas, Bourque, Guillaume, Laprise, Catherine, Montpetit, Alexandre, Syvänen, Ann-Christine, Rönnblom, Lars, Sawcer, Stephen J., Lathrop, Mark G., and Pastinen, Tomi
Abstract: Background: The observation that the genetic variants identified in genome-wide association studies (GWAS) frequently lie in non-coding regions of the genome that contain cis-regulatory elements suggests that altered gene expression underlies the development of many complex traits. In order to efficiently make a comprehensive assessment of the impact of non-coding genetic variation in immune related diseases we emulated the whole-exome sequencing paradigm and developed a custom capture panel for the known DNase I hypersensitive site (DHS) in immune cells - "Immunoseq". Results: We performed Immunoseq in 30 healthy individuals where we had existing transcriptome data from T cells. We identified a large number of novel non-coding variants in these samples. Relying on allele specific expression measurements, we also showed that our selected capture regions are enriched for functional variants that have an impact on differential allelic gene expression. The results from a replication set with 180 samples confirmed our observations. Conclusions: We show that Immunoseq is a powerful approach to detect novel rare variants in regulatory regions. We also demonstrate that these novel variants have a potential functional role in immune cells.
Published: 2016
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148. Neuroanatomical substrates of generalized brain dysfunction in COVID-19.

Author: Newcombe, Virginia F. J., Spindler, Lennart R. B., Das, Tilak, Winzeck, Stefan, Allinson, Kieren, Stamatakis, Emmanuel A., Menon, David K., Anwar, Fahim, Bullmore, Edward, Coles, Alasdair, Coles, Jonathan, Jones, Joanne, Lupson, Victoria, Needham, Edward, Rowe, James, Sawcer, Stephen, and Valerio, Fernanda
Subjects: COVID-19, CENTRAL nervous system viral diseases
Abstract: Reports of brain X-ray computed tomography [[2]] or magnetic resonance imaging (MRI) [[3]] findings in individual patients or small case series have generally focused on discrete pathologies such as stroke or focal abnormalities. We report MRI findings in six patients with severe COVID-19-related respiratory failure (WHO Ordinal Scale 7), imaged 19 days (range 16-26) post admission, using conventional MRI and diffusion tensor imaging (DTI, Supplementary Table 1). COVID-19 patients had significantly lower fractional anisotropy in several white matter tracts (Fig. [Extracted from the article]
Published: 2021
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149. A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

Author: Aung, Tin, Ozaki, Mineo, Mizoguchi, Takanori, Allingham, R Rand, Li, Zheng, Haripriya, Aravind, Nakano, Satoko, Uebe, Steffen, Harder, Jeffrey M, Chan, Anita S Y, Lee, Mei Chin, Burdon, Kathryn P, Astakhov, Yury S, Abu-Amero, Khaled K, Zenteno, Juan C, Nilgün, Yildirim, Zarnowski, Tomasz, Pakravan, Mohammad, Safieh, Leen Abu, Jia, Liyun, Wang, Ya Xing, Williams, Susan, Paoli, Daniela, Schlottmann, Patricio G, Huang, Lulin, Sim, Kar Seng, Foo, Jia Nee, Nakano, Masakazu, Ikeda, Yoko, Kumar, Rajesh S, Ueno, Morio, Manabe, Shin-ichi, Hayashi, Ken, Kazama, Shigeyasu, Ideta, Ryuichi, Mori, Yosai, Miyata, Kazunori, Sugiyama, Kazuhisa, Higashide, Tomomi, Chihara, Etsuo, Inoue, Kenji, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Aihara, Makoto, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Matsuda, Fumihiko, Yamashiro, Kenji, Gotoh, Norimoto, Miyake, Masahiro, Astakhov, Sergei Y, Osman, Essam A, Al-Obeidan, Saleh A, Owaidhah, Ohoud, Al-Jasim, Leyla, Al Shahwan, Sami, Fogarty, Rhys A, Leo, Paul, Yetkin, Yaz, Oguz, Çilingir, Kanavi, Mozhgan Rezaei, Beni, Afsaneh Nederi, Yazdani, Shahin, Akopov, Evgeny L, Toh, Kai-Yee, Howell, Gareth R, Orr, Andrew C, Goh, Yufen, Meah, Wee Yang, Peh, Su Qin, Kosior-Jarecka, Ewa, Lukasik, Urszula, Krumbiegel, Mandy, Vithana, Eranga N, Wong, Tien Yin, Liu, Yutao, Koch, Allison E Ashley, Challa, Pratap, Rautenbach, Robyn M, Mackey, David A, Hewitt, Alex W, Mitchell, Paul, Wang, Jie Jin, Ziskind, Ari, Carmichael, Trevor, Ramakrishnan, Rangappa, Narendran, Kalpana, Venkatesh, Rangaraj, Vijayan, Saravanan, Zhao, Peiquan, Chen, Xueyi, Guadarrama-Vallejo, Dalia, Cheng, Ching Yu, Perera, Shamira A, Husain, Rahat, Ho, Su-Ling, Welge-Luessen, Ulrich-Christoph, Mardin, Christian, Schloetzer-Schrehardt, Ursula, Hillmer, Axel M, Herms, Stefan, Moebus, Susanne, Nöthen, Markus M, Weisschuh, Nicole, Shetty, Rohit, Ghosh, Arkasubhra, Teo, Yik Ying, Brown, Matthew A, Lischinsky, Ignacio, Crowston, Jonathan G, Coote, Michael, Zhao, Bowen, Sang, Jinghong, Zhang, Nihong, You, Qisheng, Vysochinskaya, Vera, Founti, Panayiota, Chatzikyriakidou, Anthoula, Lambropoulos, Alexandros, Anastasopoulos, Eleftherios, Coleman, Anne L, Wilson, M Roy, Rhee, Douglas J, Kang, Jae Hee, May-Bolchakova, Inna, Heegaard, Steffen, Mori, Kazuhiko, Alward, Wallace L M, Jonas, Jost B, Xu, Liang, Liebmann, Jeffrey M, Chowbay, Balram, Schaeffeler, Elke, Schwab, Matthias, Lerner, Fabian, Wang, Ningli, Yang, Zhenglin, Frezzotti, Paolo, Kinoshita, Shigeru, Fingert, John H, Inatani, Masaru, Tashiro, Kei, Reis, André, Edward, Deepak P, Pasquale, Louis R, Kubota, Toshiaki, Wiggs, Janey L, Pasutto, Francesca, Topouzis, Fotis, Dubina, Michael, Craig, Jamie E, Yoshimura, Nagahisa, Sundaresan, Periasamy, John, Simon W M, Ritch, Robert, Hauser, Michael A, Khor, Chiea-Chuen, Rochtchina, Elena, Viswanathan, Ananth C, Wong, Tien Y, Xie, Jing, Sim, Xueling, Inouye, Michael, Holliday, Elizabeth G, Attia, John, Scott, Rodney J, Baird, Paul N, Donnelly, Peter, Barroso, Ines, Blackwell, Jenefer M, Bramon, Elvira, 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, Wood, Nicholas W, Spencer, Chris C A, Band, Gavin, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Pirinen, Matti, Pearson, Richard, Strange, Amy, 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, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, Sara, and Whittaker, Pamela
Subjects: Asian Continental Ancestry Group, Pseudoexfoliation syndrome, Medizin, Locus (genetics), Genome-wide association study, Biology, Inbred C57BL, Exfoliation Syndrome, Polymorphism, Single Nucleotide, Article, Mice, Animals, Calcium Channels, Case-Control Studies, Chromosome Mapping, Genetic Predisposition to Disease, Genome-Wide Association Study, Glaucoma, Open-Angle, HEK293 Cells, HeLa Cells, Humans, Japan, MCF-7 Cells, Mice, Inbred C57BL, Tumor Cells, Cultured, Genetics, Asian People, medicine, SNP, Allele, Polymorphism, Cultured, Case-control study, Glaucoma, Odds ratio, Single Nucleotide, medicine.disease, eye diseases, Tumor Cells, Open-Angle, Etiology
Abstract: Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: OR(A allele) = 9.87, P = 2.13 × 10(-217); non-Japanese: OR(A allele) = 0.49, P = 2.35 × 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease.
Published: 2014

150. The correlation between reading and mathematics ability at age twelve has a substantial genetic component

Author: Davis, Oliver S. P., Band, Gavin, Pirinen, Matti, Haworth, Claire M. A., Meaburn, Emma L., Kovas, Yulia, Harlaar, Nicole, Docherty, Sophia J., Hanscombe, Ken B., Trzaskowski, Maciej, Curtis, Charles J. C., Strange, Amy, Freeman, Colin, Bellenguez, Céline, Su, Zhan, Pearson, Richard, Vukcevic, Damjan, Langford, Cordelia, Deloukas, Panos, Hunt, Sarah, Gray, Emma, Dronov, Serge, Potter, Simon C., Tashakkori-Ghanbaria, Avazeh, Edkins, Sarah, Bumpstead, Suzannah J., Blackwell, Jenefer M., Bramon, Elvira, Brown, Matthew A., Casas, Juan P., Corvin, Aiden, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S., Mathew, Christopher G., Palmer, Colin N. A., Rautanen, Anna, Sawcer, Stephen J., Trembath, Richard C., Viswanathan, Ananth C., Wood, Nicholas W., Barroso, Ines, Peltonen, Leena, Dale, Philip S., Petrill, Stephen A., Schalkwyk, Leonard S., Craig, Ian W., Lewis, Cathryn M., Price, Thomas S., Donnelly, Peter, Plomin, Robert, and Spencer, Chris C. A.
Subjects: Male, LB1501, RJ, Twins, BF, A300, Polymorphism, Single Nucleotide, Article, United Kingdom, Dyslexia, psyc, Genetics, Population, Quantitative Trait, Heritable, Reading, HQ, Humans, Learning, Female, LB, Child, Mathematics, Genome-Wide Association Study
Abstract: Dissecting how genetic and environmental influences impact on learning is helpful for maximizing numeracy and literacy. Here we show, using twin and genome-wide analysis, that there is a substantial genetic component to children’s ability in reading and mathematics, and estimate that around one half of the observed correlation in these traits is due to shared genetic effects (so-called Generalist Genes). Thus, our results highlight the potential role of the learning environment in contributing to differences in a child’s cognitive abilities at age twelve., Understanding the genetic basis of cognitive traits could aid the development of numeracy and literacy skills in children. Here the authors show that reading and mathematics have a large overlapping genetic component and suggest that a child's learning environment has a key role in creating differences between them.
Published: 2014

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