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

Author

Geissler, Julia M., Romanos, Marcel, Gerlach, Manfred, Berg, Daniela, Schulte, Claudia, Nalls, Mike, Plagnol, Vincent, Hernandez, Dena G., Sharma, Manu, Sheerin, Una-Marie, Saad, Mohamad, Simón-Sánchez, Javier, Schulte, Claudia, 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, 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, Evans, Jonathan R., Foltynie, Thomas, Gao, Jianjun, Gardner, Michelle, Gibbs, J. Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Gústafsson, Ómar, Harris, Clare, van Hilten, Jacobus J., Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Huber, Heiko, Hudson, Gavin, Hunt, Sarah E., Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V., Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, 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, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Sidransky, Ellen, 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, Trabzuni, Daniah, Traynor, Bryan J., 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, Martinez, Maria, Hardy, John, Heutink, Peter, Brice, Alexis, Gasser, Thomas, Singleton, Andrew B., Wood, Nicholas W., and International Parkinson Disease Genomics Consortium members

Published
2017
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3. Extensive Anti-CoA Immunostaining in Alzheimer’s Disease and Covalent Modification of Tau by a Key Cellular Metabolite Coenzyme A

Author

Lashley, Tammaryn, primary, Tossounian, Maria-Armineh, additional, Costello Heaven, Neve, additional, Wallworth, Samantha, additional, Peak-Chew, Sew, additional, Bradshaw, Aaron, additional, Cooper, J. Mark, additional, de Silva, Rohan, additional, Srai, Surjit Kaila, additional, Malanchuk, Oksana, additional, Filonenko, Valeriy, additional, Koopman, Margreet B., additional, Rüdiger, Stefan G. D., additional, Skehel, Mark, additional, and Gout, Ivan, additional

Published
2021
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7. Oral subchronic exposure to the mycotoxin ochratoxin A induces key pathological features of Parkinson's disease in mice six months after the end of the treatment

Author

Izco, María, primary, Vettorazzi, Ariane, additional, Forcen, Raquel, additional, Blesa, Javier, additional, de Toro, Maria, additional, Alvarez-Herrera, Natalia, additional, Cooper, J Mark, additional, Gonzalez-Peñas, Elena, additional, Lopez de Cerain, Adela, additional, and Alvarez-Erviti, Lydia, additional

Published
2021
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10. Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease

Author

Robak, Laurie A., Jansen, Iris E., Rooij, Jeroen van, Uitterlinden, André G., Kraaij, Robert, Jankovic, Joseph, Heutink, Peter, Shulman, Joshua M., Nalls, Mike A., Plagnol, Vincent, Hernandez, Dena G., Sharma, Manu, Sheerin, Una Marie, Saad, Mohamad, Simón-Sánchez, Javier, Schulte, Claudia, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Barker, Roger, Ben, Yoav, Berendse, Henk W., 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., Majounie, Elisa, Charlesworth, Gavin, Lungu, Codrin, 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, Evans, Jonathan R., Foltynie, Thomas, Dong, Jing, Gardner, Michelle, Gibbs, J. Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Harris, Clare, van Hilten, Jacobus J., Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Wurster, Isabel, Mätzler, Walter, Hudson, Gavin, Hunt, Sarah E., Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V., Lambert, Jean Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, 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., Pétursson, Hjörvar, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Shulman, Joshua, Sidransky, Ellen, Smith, Colin, Spencer, Chris C.A., Stefánsson, Hreinn, Bettella, Francesco, Stockton, Joanna D., Strange, Amy, Talbot, Kevin, Tanner, Carlie M., Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J., Velseboer, Daan, Vidailhet, Marie, Walker, Robert, Warrenburg, Bart van de, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H., Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Wood, Nicholas W., Hardy, John, Brice, Alexis, Gasser, Thomas, Singleton, Andrew B., Erasmus University Medical Center [Rotterdam] (Erasmus MC), Ctr Life Sci Technol, Div Gen Technol, Tsurumi Ku, RIKEN - Institute of Physical and Chemical Research [Japon] (RIKEN), Neurology, ANS - Neurodegeneration, ANS - Amsterdam Neuroscience, Intensive Care Medicine, ANS - Neuroinfection & -inflammation, Graduate School, ACS - Amsterdam Cardiovascular Sciences, APH - Aging & Later Life, Amsterdam Neuroscience - Neurodegeneration, Human genetics, Internal Medicine, and Erasmus MC other

Subjects
Male, 0301 basic medicine, Parkinson's disease, Acid Ceramidase, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Organic Anion Transporters, ASAH1 protein, human, Disease, CTSD protein, human, Cathepsin D, genetics [Glucosylceramidase], whole exome sequencing, Cohort Studies, 0302 clinical medicine, genetics [Parkinson Disease], Exome, genetics, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Aged, 80 and over, Genetics, Symporters, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, genetics [Organic Anion Transporters], Middle Aged, genetics [Lysosomal Storage Diseases], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Control subjects, sphingomyelin phosphodiesterase 1, human, 3. Good health, sialic acid transport proteins, Sphingomyelin Phosphodiesterase, ASAH1, Glucosylceramidase, Female, Adult, Genotype, Biology, lysosomal storage disorders, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Genotyping, Gene, Aged, [SCCO.NEUR]Cognitive science/Neuroscience, Original Articles, medicine.disease, genetics [Symporters], genetics [Acid Ceramidase], nervous system diseases, genetics [Cathepsin D], 030104 developmental biology, Case-Control Studies, Mutation, genetics [Sphingomyelin Phosphodiesterase], Neurology (clinical), Glucocerebrosidase, 030217 neurology & neurosurgery
Abstract

Item does not contain fulltext Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with Parkinson's disease susceptibility. The sequence kernel association test was used to interrogate variant burden among 54 lysosomal storage disorder genes, leveraging whole exome sequencing data from 1156 Parkinson's disease cases and 1679 control subjects. We discovered a significant burden of rare, likely damaging lysosomal storage disorder gene variants in association with Parkinson's disease risk. The association signal was robust to the exclusion of GBA, and consistent results were obtained in two independent replication cohorts, including 436 cases and 169 controls with whole exome sequencing and an additional 6713 cases and 5964 controls with exome-wide genotyping. In secondary analyses designed to highlight the specific genes driving the aggregate signal, we confirmed associations at the GBA and SMPD1 loci and newly implicate CTSD, SLC17A5, and ASAH1 as candidate Parkinson's disease susceptibility genes. In our discovery cohort, the majority of Parkinson's disease cases (56%) have at least one putative damaging variant in a lysosomal storage disorder gene, and 21% carry multiple alleles. Our results highlight several promising new susceptibility loci and reinforce the importance of lysosomal mechanisms in Parkinson's disease pathogenesis. We suggest that multiple genetic hits may act in combination to degrade lysosomal function, enhancing Parkinson's disease susceptibility.

Published
2017

11. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinsonʼs disease with a sexual dimorphism

Author

Klebe, Stephan, Golmard, Jean-Louis, Nalls, Michael A, Saad, Mohamad, Singleton, Andrew B, Bras, Jose M, Hardy, John, Simon-Sanchez, Javier, Heutink, Peter, Kuhlenbäumer, Gregor, Charfi, Rim, Klein, Christine, Hagenah, Johann, Gasser, Thomas, Wurster, Isabel, Lesage, Suzanne, Lorenz, Delia, Deuschl, Günther, Durif, Franck, Pollak, Pierre, Damier, Philippe, Tison, François, Durr, Alexandra, Amouyel, Philippe, Lambert, Jean-Charles, Tzourio, Christophe, Maubaret, Cécilia, Charbonnier-Beaupel, Fanny, Tahiri, Khadija, Vidailhet, Marie, Martinez, Maria, Brice, Alexis, Corvol, Jean-Christophe, Agid, Y, Anheim, M, Bonnet, A-M, Borg, M, Brice, A., Broussolle, E, Corvol, J-C, Damier, Ph., Destée, A., Durr, A, Durif, F, Klebe, S, Lohmann, E, Martinez, M, Penet, C, Pollak, P, Krack, P, Rascol, O, Tison, F, Tranchant, C, Vérin, M, Viallet, F, Plagnol, Vincent, Bras, Jose M, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Saad, Mohamad, Simón-Sánchez, Javier, Schulte, Claudia, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Amouyel, Philippe, Arepalli, Sampath, Band, Gavin, Barker, Roger A, Bellinguez, Céline, Ben-Shlomo, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob MA, Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Cooper, J Mark, Corvol, Jean Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Freeman, Colin, Gao, Jianjun, Gardner, Michelle, Gibbs, Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Gústafsson, Ómar, Harris, Clare, Hellenthal, Garrett, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Huber, Heiko, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Morris, Huw, Morrison, Karen E, Mudanohwo, Ese, OʼSullivan, Sean S, Pearson, Justin, Pearson, Richard, Perlmutter, Joel S, Pétursson, Hjörvar, Pirinen, Matti, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Sidransky, Ellen, de Silva, Rohan, Smith, Colin, Spencer, Chris CA, Stefánsson, Hreinn, Steinberg, Stacy, Stockton, Joanna D, Strange, Amy, Su, Zhan, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J, Uitterlinden, G, Vandrovcova, Jana, Velseboer, Daan, Vidailhet, Marie, Vukcevic, Damjan, Walker, Robert, van de Warrenburg, Bart, Weale, Michael E, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Martinez, Maria, Donnelly, Peter, Hardy, John, Heutink, Peter, Brice, Alexis, Gasser, Thomas, Wood, Nicholas W, and Singleton, Andrew B

Published
2013
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15. Systemic Exosomal Delivery of shRNA Minicircles Prevents Parkinsonian Pathology

Author

Izco, María, primary, Blesa, Javier, additional, Schleef, Martin, additional, Schmeer, Marco, additional, Porcari, Riccardo, additional, Al-Shawi, Raya, additional, Ellmerich, Stephan, additional, de Toro, María, additional, Gardiner, Chris, additional, Seow, Yiqi, additional, Reinares-Sebastian, Alejandro, additional, Forcen, Raquel, additional, Simons, J. Paul, additional, Bellotti, Vittorio, additional, Cooper, J. Mark, additional, and Alvarez-Erviti, Lydia, additional

Published
2019
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21. Mitochondrial myopathy with a defect of mitochondrial-protein transport

Author

Schapira, Anthony H.V., Cooper, J. Mark, Morgan-Hughes, John A., Landon, David N., and Clark, John B.

Subjects
Mitochondria -- Abnormalities, Metabolic regulation -- Abnormalities, Mitochondrial myopathies -- Case studies, Mitochondrial myopathies -- Physiological aspects
Abstract

MItochondria are organelles located in the cytoplasm of cells that provide energy to the cell. They are involved in diverse biochemical reactions and contain many enzymes that facilitate life-sustaining chemical reactions. These tiny bodies even possess their own DNA. Mitochondria in muscle are now known to be responsible for several kinds of myopathy (muscle disease), and the molecular bases of some of these have been characterized. The case history of a 14-year-old girl with weakness and exercise intolerance of lifelong duration is discussed. The patient's intelligence appeared normal, but she had been unable to run or play normally in school. Her symptoms had been attributed to asthma. Biopsy specimens from a leg muscle were evaluated to determine the source of the muscle weakness. The levels of several enzymes important in the mitochondrial respiratory chain (the series of chemical events that leads to energy production) were abnormally low. An analysis of the specific deficits is provided. Similar cases reported in the medical literature are compared with the present case. People with deficits in mitochondrial enzymes of a magnitude equivalent to the patient's, but not confined to muscle, usually die in infancy. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1990

22. 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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24. 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

25. 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

26. Impaired Mitophagy and Protein Acetylation Levels in Fibroblasts from Parkinson’s Disease Patients

Author

Yakhine-Diop, Sokhna M. S., primary, Niso-Santano, Mireia, additional, Rodríguez-Arribas, Mario, additional, Gómez-Sánchez, Rubén, additional, Martínez-Chacón, Guadalupe, additional, Uribe-Carretero, Elisabet, additional, Navarro-García, José A., additional, Ruiz-Hurtado, Gema, additional, Aiastui, Ana, additional, Cooper, J. Mark, additional, López de Munaín, Adolfo, additional, Bravo-San Pedro, José M., additional, González-Polo, Rosa A., additional, and Fuentes, José M., additional

Published
2018
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27. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

Author

LODI, RAFFAELE, COOPER, J. MARK, BRADLEY, JANE L., MANNERS, DAVID, STYLES, PETER, TAYLOR, DORIS J., and SCHAPIRA, ANTHONY H. V.

Subjects
Mitochondria -- Physiological aspects, Adenosine triphosphate -- Physiological aspects, Friedreich's ataxia -- Research, Chromosome abnormalities -- Physiological aspects, Science and technology
Abstract

Friedreich ataxia (FRDA), the most common of the inherited ataxias, is an autosomal recessive degenerative disorder, characterized clinically by onset before the age of 25 of progressive gait and limb ataxia, absence of deep tendon reflexes, extensor plantar responses, and loss of position and vibration sense in the lower limbs. FRDA is caused by a GAA triplet expansion in the first intron of the FRDA gene on chromosome 9q13 in 97% of patients. The FRDA gene encodes a widely expressed 210-aa protein, frataxin, which is located in mitochondria and is severely reduced in FRDA patients. Frataxin function is still unknown but the knockout of the yeast frataxin homologue gene (YFH1) showed a severe defect of mitochondrial respiration and loss of mtDNA associated with elevated intramitochondrial iron. Here we report in vivo evidence of impaired mitochondrial respiration in skeletal muscle of FRDA patients. Using phosphorus magnetic resonance spectroscopy we demonstrated a maximum rate of muscle mitochondrial ATP production ([V.sub.max]) below the normal range in all 12 FRDA patients and a strong negative correlation between mitochondrial [V.sub.max] and the number of GAA repeats in the smaller allele. Our results show that FRDA is a nuclear-encoded mitochondrial disorder affecting oxidative phosphorylation and give a rationale for treatments aimed to improve mitochondrial function in this condition.

Published
1999

28. 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

29. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Author

Klionsky, Daniel J, primary, Abdelmohsen, Kotb, additional, Abe, Akihisa, additional, Abedin, Md Joynal, additional, Abeliovich, Hagai, additional, Acevedo Arozena, Abraham, additional, Adachi, Hiroaki, additional, Adams, Christopher M, additional, Adams, Peter D, additional, Adeli, Khosrow, additional, Adhihetty, Peter J, additional, Adler, Sharon G, additional, Agam, Galila, additional, Agarwal, Rajesh, additional, Aghi, Manish K, additional, Agnello, Maria, additional, Agostinis, Patrizia, additional, Aguilar, Patricia V, additional, Aguirre-Ghiso, Julio, additional, Airoldi, Edoardo M, additional, Ait-Si-Ali, Slimane, additional, Akematsu, Takahiko, additional, Akporiaye, Emmanuel T, additional, Al-Rubeai, Mohamed, additional, Albaiceta, Guillermo M, additional, Albanese, Chris, additional, Albani, Diego, additional, Albert, Matthew L, additional, Aldudo, Jesus, additional, Algül, Hana, additional, Alirezaei, Mehrdad, additional, Alloza, Iraide, additional, Almasan, Alexandru, additional, Almonte-Beceril, Maylin, additional, Alnemri, Emad S, additional, Alonso, Covadonga, additional, Altan-Bonnet, Nihal, additional, Altieri, Dario C, additional, Alvarez, Silvia, additional, Alvarez-Erviti, Lydia, additional, Alves, Sandro, additional, Amadoro, Giuseppina, additional, Amano, Atsuo, additional, Amantini, Consuelo, additional, Ambrosio, Santiago, additional, Amelio, Ivano, additional, Amer, Amal O, additional, Amessou, Mohamed, additional, Amon, Angelika, additional, An, Zhenyi, additional, Anania, Frank A, additional, Andersen, Stig U, additional, Andley, Usha P, additional, Andreadi, Catherine K, additional, Andrieu-Abadie, Nathalie, additional, Anel, Alberto, additional, Ann, David K, additional, Anoopkumar-Dukie, Shailendra, additional, Antonioli, Manuela, additional, Aoki, Hiroshi, additional, Apostolova, Nadezda, additional, Aquila, Saveria, additional, Aquilano, Katia, additional, Araki, Koichi, additional, Arama, Eli, additional, Aranda, Agustin, additional, Araya, Jun, additional, Arcaro, Alexandre, additional, Arias, Esperanza, additional, Arimoto, Hirokazu, additional, Ariosa, Aileen R, additional, Armstrong, Jane L, additional, Arnould, Thierry, additional, Arsov, Ivica, additional, Asanuma, Katsuhiko, additional, Askanas, Valerie, additional, Asselin, Eric, additional, Atarashi, Ryuichiro, additional, Atherton, Sally S, additional, Atkin, Julie D, additional, Attardi, Laura D, additional, Auberger, Patrick, additional, Auburger, Georg, additional, Aurelian, Laure, additional, Autelli, Riccardo, additional, Avagliano, Laura, additional, Avantaggiati, Maria Laura, additional, Avrahami, Limor, additional, Awale, Suresh, additional, Azad, Neelam, additional, Bachetti, Tiziana, additional, Backer, Jonathan M, additional, Bae, Dong-Hun, additional, Bae, Jae-sung, additional, Bae, Ok-Nam, additional, Bae, Soo Han, additional, Baehrecke, Eric H, additional, Baek, Seung-Hoon, additional, Baghdiguian, Stephen, additional, Bagniewska-Zadworna, Agnieszka, additional, Bai, Hua, additional, Bai, Jie, additional, Bai, Xue-Yuan, additional, Bailly, Yannick, additional, Balaji, Kithiganahalli Narayanaswamy, additional, Balduini, Walter, additional, Ballabio, Andrea, additional, Balzan, Rena, additional, Banerjee, Rajkumar, additional, Bánhegyi, Gábor, additional, Bao, Haijun, additional, Barbeau, Benoit, additional, Barrachina, Maria D, additional, Barreiro, Esther, additional, Bartel, Bonnie, additional, Bartolomé, Alberto, additional, Bassham, Diane C, additional, Bassi, Maria Teresa, additional, Bast, Robert C, additional, Basu, Alakananda, additional, Batista, Maria Teresa, additional, Batoko, Henri, additional, Battino, Maurizio, additional, Bauckman, Kyle, additional, Baumgarner, Bradley L, additional, Bayer, K Ulrich, additional, Beale, Rupert, additional, Beaulieu, Jean-François, additional, Beck, George R., additional, Becker, Christoph, additional, Beckham, J David, additional, Bédard, Pierre-André, additional, Bednarski, Patrick J, additional, Begley, Thomas J, additional, Behl, Christian, additional, Behrends, Christian, additional, Behrens, Georg MN, additional, Behrns, Kevin E, additional, Bejarano, Eloy, additional, Belaid, Amine, additional, Belleudi, Francesca, additional, Bénard, Giovanni, additional, Berchem, Guy, additional, Bergamaschi, Daniele, additional, Bergami, Matteo, additional, Berkhout, Ben, additional, Berliocchi, Laura, additional, Bernard, Amélie, additional, Bernard, Monique, additional, Bernassola, Francesca, additional, Bertolotti, Anne, additional, Bess, Amanda S, additional, Besteiro, Sébastien, additional, Bettuzzi, Saverio, additional, Bhalla, Savita, additional, Bhattacharyya, Shalmoli, additional, Bhutia, Sujit K, additional, Biagosch, Caroline, additional, Bianchi, Michele Wolfe, additional, Biard-Piechaczyk, Martine, additional, Billes, Viktor, additional, Bincoletto, Claudia, additional, Bingol, Baris, additional, Bird, Sara W, additional, Bitoun, Marc, additional, Bjedov, Ivana, additional, Blackstone, Craig, additional, Blanc, Lionel, additional, Blanco, Guillermo A, additional, Blomhoff, Heidi Kiil, additional, Boada-Romero, Emilio, additional, Böckler, Stefan, additional, Boes, Marianne, additional, Boesze-Battaglia, Kathleen, additional, Boise, Lawrence H, additional, Bolino, Alessandra, additional, Boman, Andrea, additional, Bonaldo, Paolo, additional, Bordi, Matteo, additional, Bosch, Jürgen, additional, Botana, Luis M, additional, Botti, Joelle, additional, Bou, German, additional, Bouché, Marina, additional, Bouchecareilh, Marion, additional, Boucher, Marie-Josée, additional, Boulton, Michael E, additional, Bouret, Sebastien G, additional, Boya, Patricia, additional, Boyer-Guittaut, Michaël, additional, Bozhkov, Peter V, additional, Brady, Nathan, additional, Braga, Vania MM, additional, Brancolini, Claudio, additional, Braus, Gerhard H, additional, Bravo-San Pedro, José M, additional, Brennan, Lisa A, additional, Bresnick, Emery H, additional, Brest, Patrick, additional, Bridges, Dave, additional, Bringer, Marie-Agnès, additional, Brini, Marisa, additional, Brito, Glauber C, additional, Brodin, Bertha, additional, Brookes, Paul S, additional, Brown, Eric J, additional, Brown, Karen, additional, Broxmeyer, Hal E, additional, Bruhat, Alain, additional, Brum, Patricia Chakur, additional, Brumell, John H, additional, Brunetti-Pierri, Nicola, additional, Bryson-Richardson, Robert J, additional, Buch, Shilpa, additional, Buchan, Alastair M, additional, Budak, Hikmet, additional, Bulavin, Dmitry V, additional, Bultman, Scott J, additional, Bultynck, Geert, additional, Bumbasirevic, Vladimir, additional, Burelle, Yan, additional, Burke, Robert E, additional, Burmeister, Margit, additional, Bütikofer, Peter, additional, Caberlotto, Laura, additional, Cadwell, Ken, additional, Cahova, Monika, additional, Cai, Dongsheng, additional, Cai, Jingjing, additional, Cai, Qian, additional, Calatayud, Sara, additional, Camougrand, Nadine, additional, Campanella, Michelangelo, additional, Campbell, Grant R, additional, Campbell, Matthew, additional, Campello, Silvia, additional, Candau, Robin, additional, Caniggia, Isabella, additional, Cantoni, Lavinia, additional, Cao, Lizhi, additional, Caplan, Allan B, additional, Caraglia, Michele, additional, Cardinali, Claudio, additional, Cardoso, Sandra Morais, additional, Carew, Jennifer S, additional, Carleton, Laura A, additional, Carlin, Cathleen R, additional, Carloni, Silvia, additional, Carlsson, Sven R, additional, Carmona-Gutierrez, Didac, additional, Carneiro, Leticia AM, additional, Carnevali, Oliana, additional, Carra, Serena, additional, Carrier, Alice, additional, Carroll, Bernadette, additional, Casas, Caty, additional, Casas, Josefina, additional, Cassinelli, Giuliana, additional, Castets, Perrine, additional, Castro-Obregon, Susana, additional, Cavallini, Gabriella, additional, Ceccherini, Isabella, additional, Cecconi, Francesco, additional, Cederbaum, Arthur I, additional, Ceña, Valentín, additional, Cenci, Simone, additional, Cerella, Claudia, additional, Cervia, Davide, additional, Cetrullo, Silvia, additional, Chaachouay, Hassan, additional, Chae, Han-Jung, additional, Chagin, Andrei S, additional, Chai, Chee-Yin, additional, Chakrabarti, Gopal, additional, Chamilos, Georgios, additional, Chan, Edmond YW, additional, Chan, Matthew TV, additional, Chandra, Dhyan, additional, Chandra, Pallavi, additional, Chang, Chih-Peng, additional, Chang, Raymond Chuen-Chung, additional, Chang, Ta Yuan, additional, Chatham, John C, additional, Chatterjee, Saurabh, additional, Chauhan, Santosh, additional, Che, Yongsheng, additional, Cheetham, Michael E, additional, Cheluvappa, Rajkumar, additional, Chen, Chun-Jung, additional, Chen, Gang, additional, Chen, Guang-Chao, additional, Chen, Guoqiang, additional, Chen, Hongzhuan, additional, Chen, Jeff W, additional, Chen, Jian-Kang, additional, Chen, Min, additional, Chen, Mingzhou, additional, Chen, Peiwen, additional, Chen, Qi, additional, Chen, Quan, additional, Chen, Shang-Der, additional, Chen, Si, additional, Chen, Steve S-L, additional, Chen, Wei, additional, Chen, Wei-Jung, additional, Chen, Wen Qiang, additional, Chen, Wenli, additional, Chen, Xiangmei, additional, Chen, Yau-Hung, additional, Chen, Ye-Guang, additional, Chen, Yin, additional, Chen, Yingyu, additional, Chen, Yongshun, additional, Chen, Yu-Jen, additional, Chen, Yue-Qin, additional, Chen, Yujie, additional, Chen, Zhen, additional, Chen, Zhong, additional, Cheng, Alan, additional, Cheng, Christopher HK, additional, Cheng, Hua, additional, Cheong, Heesun, additional, Cherry, Sara, additional, Chesney, Jason, additional, Cheung, Chun Hei Antonio, additional, Chevet, Eric, additional, Chi, Hsiang Cheng, additional, Chi, Sung-Gil, additional, Chiacchiera, Fulvio, additional, Chiang, Hui-Ling, additional, Chiarelli, Roberto, additional, Chiariello, Mario, additional, Chieppa, Marcello, additional, Chin, Lih-Shen, additional, Chiong, Mario, additional, Chiu, Gigi NC, additional, Cho, Dong-Hyung, additional, Cho, Ssang-Goo, additional, Cho, William C, additional, Cho, Yong-Yeon, additional, Cho, Young-Seok, additional, Choi, Augustine MK, additional, Choi, Eui-Ju, additional, Choi, Eun-Kyoung, additional, Choi, Jayoung, additional, Choi, Mary E, additional, Choi, Seung-Il, additional, Chou, Tsui-Fen, additional, Chouaib, Salem, additional, Choubey, Divaker, additional, Choubey, Vinay, additional, Chow, Kuan-Chih, additional, Chowdhury, Kamal, additional, Chu, Charleen T, additional, Chuang, Tsung-Hsien, additional, Chun, Taehoon, additional, Chung, Hyewon, additional, Chung, Taijoon, additional, Chung, Yuen-Li, additional, Chwae, Yong-Joon, additional, Cianfanelli, Valentina, additional, Ciarcia, Roberto, additional, Ciechomska, Iwona A, additional, Ciriolo, Maria Rosa, additional, Cirone, Mara, additional, Claerhout, Sofie, additional, Clague, Michael J, additional, Clària, Joan, additional, Clarke, Peter GH, additional, Clarke, Robert, additional, Clementi, Emilio, additional, Cleyrat, Cédric, additional, Cnop, Miriam, additional, Coccia, Eliana M, additional, Cocco, Tiziana, additional, Codogno, Patrice, additional, Coers, Jörn, additional, Cohen, Ezra EW, additional, Colecchia, David, additional, Coletto, Luisa, additional, Coll, Núria S, additional, Colucci-Guyon, Emma, additional, Comincini, Sergio, additional, Condello, Maria, additional, Cook, Katherine L, additional, Coombs, Graham H, additional, Cooper, Cynthia D, additional, Cooper, J Mark, additional, Coppens, Isabelle, additional, Corasaniti, Maria Tiziana, additional, Corazzari, Marco, additional, Corbalan, Ramon, additional, Corcelle-Termeau, Elisabeth, additional, Cordero, Mario D, additional, Corral-Ramos, Cristina, additional, Corti, Olga, additional, Cossarizza, Andrea, additional, Costelli, Paola, additional, Costes, Safia, additional, Cotman, Susan L, additional, Coto-Montes, Ana, additional, Cottet, Sandra, additional, Couve, Eduardo, additional, Covey, Lori R, additional, Cowart, L Ashley, additional, Cox, Jeffery S, additional, Coxon, Fraser P, additional, Coyne, Carolyn B, additional, Cragg, Mark S, additional, Craven, Rolf J, additional, Crepaldi, Tiziana, additional, Crespo, Jose L, additional, Criollo, Alfredo, additional, Crippa, Valeria, additional, Cruz, Maria Teresa, additional, Cuervo, Ana Maria, additional, Cuezva, Jose M, additional, Cui, Taixing, additional, Cutillas, Pedro R, additional, Czaja, Mark J, additional, Czyzyk-Krzeska, Maria F, additional, Dagda, Ruben K, additional, Dahmen, Uta, additional, Dai, Chunsun, additional, Dai, Wenjie, additional, Dai, Yun, additional, Dalby, Kevin N, additional, Dalla Valle, Luisa, additional, Dalmasso, Guillaume, additional, D'Amelio, Marcello, additional, Damme, Markus, additional, Darfeuille-Michaud, Arlette, additional, Dargemont, Catherine, additional, Darley-Usmar, Victor M, additional, Dasarathy, Srinivasan, additional, Dasgupta, Biplab, additional, Dash, Srikanta, additional, Dass, Crispin R, additional, Davey, Hazel Marie, additional, Davids, Lester M, additional, Dávila, David, additional, Davis, Roger J, additional, Dawson, Ted M, additional, Dawson, Valina L, additional, Daza, Paula, additional, de Belleroche, Jackie, additional, de Figueiredo, Paul, additional, de Figueiredo, Regina Celia Bressan Queiroz, additional, de la Fuente, José, additional, De Martino, Luisa, additional, De Matteis, Antonella, additional, De Meyer, Guido RY, additional, De Milito, Angelo, additional, De Santi, Mauro, additional, de Souza, Wanderley, additional, De Tata, Vincenzo, additional, De Zio, Daniela, additional, Debnath, Jayanta, additional, Dechant, Reinhard, additional, Decuypere, Jean-Paul, additional, Deegan, Shane, additional, Dehay, Benjamin, additional, Del Bello, Barbara, additional, Del Re, Dominic P, additional, Delage-Mourroux, Régis, additional, Delbridge, Lea MD, additional, Deldicque, Louise, additional, Delorme-Axford, Elizabeth, additional, Deng, Yizhen, additional, Dengjel, Joern, additional, Denizot, Melanie, additional, Dent, Paul, additional, Der, Channing J, additional, Deretic, Vojo, additional, Derrien, Benoît, additional, Deutsch, Eric, additional, Devarenne, Timothy P, additional, Devenish, Rodney J, additional, Di Bartolomeo, Sabrina, additional, Di Daniele, Nicola, additional, Di Domenico, Fabio, additional, Di Nardo, Alessia, additional, Di Paola, Simone, additional, Di Pietro, Antonio, additional, Di Renzo, Livia, additional, DiAntonio, Aaron, additional, Díaz-Araya, Guillermo, additional, Díaz-Laviada, Ines, additional, Diaz-Meco, Maria T, additional, Diaz-Nido, Javier, additional, Dickey, Chad A, additional, Dickson, Robert C, additional, Diederich, Marc, additional, Digard, Paul, additional, Dikic, Ivan, additional, Dinesh-Kumar, Savithrama P, additional, Ding, Chan, additional, Ding, Wen-Xing, additional, Ding, Zufeng, additional, Dini, Luciana, additional, Distler, Jörg HW, additional, Diwan, Abhinav, additional, Djavaheri-Mergny, Mojgan, additional, Dmytruk, Kostyantyn, additional, Dobson, Renwick CJ, additional, Doetsch, Volker, additional, Dokladny, Karol, additional, Dokudovskaya, Svetlana, additional, Donadelli, Massimo, additional, Dong, X Charlie, additional, Dong, Xiaonan, additional, Dong, Zheng, additional, Donohue, Terrence M, additional, Doran, Kelly S, additional, D'Orazi, Gabriella, additional, Dorn, Gerald W, additional, Dosenko, Victor, additional, Dridi, Sami, additional, Drucker, Liat, additional, Du, Jie, additional, Du, Li-Lin, additional, Du, Lihuan, additional, du Toit, André, additional, Dua, Priyamvada, additional, Duan, Lei, additional, Duann, Pu, additional, Dubey, Vikash Kumar, additional, Duchen, Michael R, additional, Duchosal, Michel A, additional, Duez, Helene, additional, Dugail, Isabelle, additional, Dumit, Verónica I, additional, Duncan, Mara C, additional, Dunlop, Elaine A, additional, Dunn, William A, additional, Dupont, Nicolas, additional, Dupuis, Luc, additional, Durán, Raúl V, additional, Durcan, Thomas M, additional, Duvezin-Caubet, Stéphane, additional, Duvvuri, Umamaheswar, additional, Eapen, Vinay, additional, Ebrahimi-Fakhari, Darius, additional, Echard, Arnaud, additional, Eckhart, Leopold, additional, Edelstein, Charles L, additional, Edinger, Aimee L, additional, Eichinger, Ludwig, additional, Eisenberg, Tobias, additional, Eisenberg-Lerner, Avital, additional, Eissa, N Tony, additional, El-Deiry, Wafik S, additional, El-Khoury, Victoria, additional, Elazar, Zvulun, additional, Eldar-Finkelman, Hagit, additional, Elliott, Chris JH, additional, Emanuele, Enzo, additional, Emmenegger, Urban, additional, Engedal, Nikolai, additional, Engelbrecht, Anna-Mart, additional, Engelender, Simone, additional, Enserink, Jorrit M, additional, Erdmann, Ralf, additional, Erenpreisa, Jekaterina, additional, Eri, Rajaraman, additional, Eriksen, Jason L, additional, Erman, Andreja, additional, Escalante, Ricardo, additional, Eskelinen, Eeva-Liisa, additional, Espert, Lucile, additional, Esteban-Martínez, Lorena, additional, Evans, Thomas J, additional, Fabri, Mario, additional, Fabrias, Gemma, additional, Fabrizi, Cinzia, additional, Facchiano, Antonio, additional, Færgeman, Nils J, additional, Faggioni, Alberto, additional, Fairlie, W Douglas, additional, Fan, Chunhai, additional, Fan, Daping, additional, Fan, Jie, additional, Fang, Shengyun, additional, Fanto, Manolis, additional, Fanzani, Alessandro, additional, Farkas, Thomas, additional, Faure, Mathias, additional, Favier, Francois B, additional, Fearnhead, Howard, additional, Federici, Massimo, additional, Fei, Erkang, additional, Felizardo, Tania C, additional, Feng, Hua, additional, Feng, Yibin, additional, Feng, Yuchen, additional, Ferguson, Thomas A, additional, Fernández, Álvaro F, additional, Fernandez-Barrena, Maite G, additional, Fernandez-Checa, Jose C, additional, Fernández-López, Arsenio, additional, Fernandez-Zapico, Martin E, additional, Feron, Olivier, additional, Ferraro, Elisabetta, additional, Ferreira-Halder, Carmen Veríssima, additional, Fesus, Laszlo, additional, Feuer, Ralph, additional, Fiesel, Fabienne C, additional, Filippi-Chiela, Eduardo C, additional, Filomeni, Giuseppe, additional, Fimia, Gian Maria, additional, Fingert, John H, additional, Finkbeiner, Steven, additional, Finkel, Toren, additional, Fiorito, Filomena, additional, Fisher, Paul B, additional, Flajolet, Marc, additional, Flamigni, Flavio, additional, Florey, Oliver, additional, Florio, Salvatore, additional, Floto, R Andres, additional, Folini, Marco, additional, Follo, Carlo, additional, Fon, Edward A, additional, Fornai, Francesco, additional, Fortunato, Franco, additional, Fraldi, Alessandro, additional, Franco, Rodrigo, additional, Francois, Arnaud, additional, François, Aurélie, additional, Frankel, Lisa B, additional, Fraser, Iain DC, additional, Frey, Norbert, additional, Freyssenet, Damien G, additional, Frezza, Christian, additional, Friedman, Scott L, additional, Frigo, Daniel E, additional, Fu, Dongxu, additional, Fuentes, José M, additional, Fueyo, Juan, additional, Fujitani, Yoshio, additional, Fujiwara, Yuuki, additional, Fujiya, Mikihiro, additional, Fukuda, Mitsunori, additional, Fulda, Simone, additional, Fusco, Carmela, additional, Gabryel, Bozena, additional, Gaestel, Matthias, additional, Gailly, Philippe, additional, Gajewska, Malgorzata, additional, Galadari, Sehamuddin, additional, Galili, Gad, additional, Galindo, Inmaculada, additional, Galindo, Maria F, additional, Galliciotti, Giovanna, additional, Galluzzi, Lorenzo, additional, Galluzzi, Luca, additional, Galy, Vincent, additional, Gammoh, Noor, additional, Gandy, Sam, additional, Ganesan, Anand K, additional, Ganesan, Swamynathan, additional, Ganley, Ian G, additional, Gannagé, Monique, additional, Gao, Fen-Biao, additional, Gao, Feng, additional, Gao, Jian-Xin, additional, García Nannig, Lorena, additional, García Véscovi, Eleonora, additional, Garcia-Macía, Marina, additional, Garcia-Ruiz, Carmen, additional, Garg, Abhishek D, additional, Garg, Pramod Kumar, additional, Gargini, Ricardo, additional, Gassen, Nils Christian, additional, Gatica, Damián, additional, Gatti, Evelina, additional, Gavard, Julie, additional, Gavathiotis, Evripidis, additional, Ge, Liang, additional, Ge, Pengfei, additional, Ge, Shengfang, additional, Gean, Po-Wu, additional, Gelmetti, Vania, additional, Genazzani, Armando A, additional, Geng, Jiefei, additional, Genschik, Pascal, additional, Gerner, Lisa, additional, Gestwicki, Jason E, additional, Gewirtz, David A, additional, Ghavami, Saeid, additional, Ghigo, Eric, additional, Ghosh, Debabrata, additional, Giammarioli, Anna Maria, additional, Giampieri, Francesca, additional, Giampietri, Claudia, additional, Giatromanolaki, Alexandra, additional, Gibbings, Derrick J, additional, Gibellini, Lara, additional, Gibson, Spencer B, additional, Ginet, Vanessa, additional, Giordano, Antonio, additional, Giorgini, Flaviano, additional, Giovannetti, Elisa, additional, Girardin, Stephen E, additional, Gispert, Suzana, additional, Giuliano, Sandy, additional, Gladson, Candece L, additional, Glavic, Alvaro, additional, Gleave, Martin, additional, Godefroy, Nelly, additional, Gogal, Robert M, additional, Gokulan, Kuppan, additional, Goldman, Gustavo H, additional, Goletti, Delia, additional, Goligorsky, Michael S, additional, Gomes, Aldrin V, additional, Gomes, Ligia C, additional, Gomez, Hernando, additional, Gomez-Manzano, Candelaria, additional, Gómez-Sánchez, Rubén, additional, Gonçalves, Dawit AP, additional, Goncu, Ebru, additional, Gong, Qingqiu, additional, Gongora, Céline, additional, Gonzalez, Carlos B, additional, Gonzalez-Alegre, Pedro, additional, Gonzalez-Cabo, Pilar, additional, González-Polo, Rosa Ana, additional, Goping, Ing Swie, additional, Gorbea, Carlos, additional, Gorbunov, Nikolai V, additional, Goring, Daphne R, additional, Gorman, Adrienne M, additional, Gorski, Sharon M, additional, Goruppi, Sandro, additional, Goto-Yamada, Shino, additional, Gotor, Cecilia, additional, Gottlieb, Roberta A, additional, Gozes, Illana, additional, Gozuacik, Devrim, additional, Graba, Yacine, additional, Graef, Martin, additional, Granato, Giovanna E, additional, Grant, Gary Dean, additional, Grant, Steven, additional, Gravina, Giovanni Luca, additional, Green, Douglas R, additional, Greenhough, Alexander, additional, Greenwood, Michael T, additional, Grimaldi, Benedetto, additional, Gros, Frédéric, additional, Grose, Charles, additional, Groulx, Jean-Francois, additional, Gruber, Florian, additional, Grumati, Paolo, additional, Grune, Tilman, additional, Guan, Jun-Lin, additional, Guan, Kun-Liang, additional, Guerra, Barbara, additional, Guillen, Carlos, additional, Gulshan, Kailash, additional, Gunst, Jan, additional, Guo, Chuanyong, additional, Guo, Lei, additional, Guo, Ming, additional, Guo, Wenjie, additional, Guo, Xu-Guang, additional, Gust, Andrea A, additional, Gustafsson, Åsa B, additional, Gutierrez, Elaine, additional, Gutierrez, Maximiliano G, additional, Gwak, Ho-Shin, additional, Haas, Albert, additional, Haber, James E, additional, Hadano, Shinji, additional, Hagedorn, Monica, additional, Hahn, David R, additional, Halayko, Andrew J, additional, Hamacher-Brady, Anne, additional, Hamada, Kozo, additional, Hamai, Ahmed, additional, Hamann, Andrea, additional, Hamasaki, Maho, additional, Hamer, Isabelle, additional, Hamid, Qutayba, additional, Hammond, Ester M, additional, Han, Feng, additional, Han, Weidong, additional, Handa, James T, additional, Hanover, John A, additional, Hansen, Malene, additional, Harada, Masaru, additional, Harhaji-Trajkovic, Ljubica, additional, Harper, J Wade, additional, Harrath, Abdel Halim, additional, Harris, Adrian L, additional, Harris, James, additional, Hasler, Udo, additional, Hasselblatt, Peter, additional, Hasui, Kazuhisa, additional, Hawley, Robert G, additional, Hawley, Teresa S, additional, He, Congcong, additional, He, Cynthia Y, additional, He, Fengtian, additional, He, Gu, additional, He, Rong-Rong, additional, He, Xian-Hui, additional, He, You-Wen, additional, He, Yu-Ying, additional, Heath, Joan K, additional, Hébert, Marie-Josée, additional, Heinzen, Robert A, additional, Helgason, Gudmundur Vignir, additional, Hensel, Michael, additional, Henske, Elizabeth P, additional, Her, Chengtao, additional, Herman, Paul K, additional, Hernández, Agustín, additional, Hernandez, Carlos, additional, Hernández-Tiedra, Sonia, additional, Hetz, Claudio, additional, Hiesinger, P Robin, additional, Higaki, Katsumi, additional, Hilfiker, Sabine, additional, Hill, Bradford G, additional, Hill, Joseph A, additional, Hill, William D, additional, Hino, Keisuke, additional, Hofius, Daniel, additional, Hofman, Paul, additional, Höglinger, Günter U, additional, Höhfeld, Jörg, additional, Holz, Marina K, additional, Hong, Yonggeun, additional, Hood, David A, additional, Hoozemans, Jeroen JM, additional, Hoppe, Thorsten, additional, Hsu, Chin, additional, Hsu, Chin-Yuan, additional, Hsu, Li-Chung, additional, Hu, Dong, additional, Hu, Guochang, additional, Hu, Hong-Ming, additional, Hu, Hongbo, additional, Hu, Ming Chang, additional, Hu, Yu-Chen, additional, Hu, Zhuo-Wei, additional, Hua, Fang, additional, Hua, Ya, additional, Huang, Canhua, additional, Huang, Huey-Lan, additional, Huang, Kuo-How, additional, Huang, Kuo-Yang, additional, Huang, Shile, additional, Huang, Shiqian, additional, Huang, Wei-Pang, additional, Huang, Yi-Ran, additional, Huang, Yong, additional, Huang, Yunfei, additional, Huber, Tobias B, additional, Huebbe, Patricia, additional, Huh, Won-Ki, additional, Hulmi, Juha J, additional, Hur, Gang Min, additional, Hurley, James H, additional, Husak, Zvenyslava, additional, Hussain, Sabah NA, additional, Hussain, Salik, additional, Hwang, Jung Jin, additional, Hwang, Seungmin, additional, Hwang, Thomas IS, additional, Ichihara, Atsuhiro, additional, Imai, Yuzuru, additional, Imbriano, Carol, additional, Inomata, Megumi, additional, Into, Takeshi, additional, Iovane, Valentina, additional, Iovanna, Juan L, additional, Iozzo, Renato V, additional, Ip, Nancy Y, additional, Irazoqui, Javier E, additional, Iribarren, Pablo, additional, Isaka, Yoshitaka, additional, Isakovic, Aleksandra J, additional, Ischiropoulos, Harry, additional, Isenberg, Jeffrey S, additional, Ishaq, Mohammad, additional, Ishida, Hiroyuki, additional, Ishii, Isao, additional, Ishmael, Jane E, additional, Isidoro, Ciro, additional, Isobe, Ken-ichi, additional, Isono, Erika, additional, Issazadeh-Navikas, Shohreh, additional, Itahana, Koji, additional, Itakura, Eisuke, additional, Ivanov, Andrei I, additional, Iyer, Anand Krishnan V, additional, Izquierdo, José M, additional, Izumi, Yotaro, additional, Izzo, Valentina, additional, Jäättelä, Marja, additional, Jaber, Nadia, additional, Jackson, Daniel John, additional, Jackson, William T, additional, Jacob, Tony George, additional, Jacques, Thomas S, additional, Jagannath, Chinnaswamy, additional, Jain, Ashish, additional, Jana, Nihar Ranjan, additional, Jang, Byoung Kuk, additional, Jani, Alkesh, additional, Janji, Bassam, additional, Jannig, Paulo Roberto, additional, Jansson, Patric J, additional, Jean, Steve, additional, Jendrach, Marina, additional, Jeon, Ju-Hong, additional, Jessen, Niels, additional, Jeung, Eui-Bae, additional, Jia, Kailiang, additional, Jia, Lijun, additional, Jiang, Hong, additional, Jiang, Hongchi, additional, Jiang, Liwen, additional, Jiang, Teng, additional, Jiang, Xiaoyan, additional, Jiang, Xuejun, additional, Jiang, Ying, additional, Jiang, Yongjun, additional, Jiménez, Alberto, additional, Jin, Cheng, additional, Jin, Hongchuan, additional, Jin, Lei, additional, Jin, Meiyan, additional, Jin, Shengkan, additional, Jinwal, Umesh Kumar, additional, Jo, Eun-Kyeong, additional, Johansen, Terje, additional, Johnson, Daniel E, additional, Johnson, Gail VW, additional, Johnson, James D, additional, Jonasch, Eric, additional, Jones, Chris, additional, Joosten, Leo AB, additional, Jordan, Joaquin, additional, Joseph, Anna-Maria, additional, Joseph, Bertrand, additional, Joubert, Annie M, additional, Ju, Dianwen, additional, Ju, Jingfang, additional, Juan, Hsueh-Fen, additional, Juenemann, Katrin, additional, Juhász, Gábor, additional, Jung, Hye Seung, additional, Jung, Jae U, additional, Jung, Yong-Keun, additional, Jungbluth, Heinz, additional, Justice, Matthew J, additional, Jutten, Barry, additional, Kaakoush, Nadeem O, additional, Kaarniranta, Kai, additional, Kaasik, Allen, additional, Kabuta, Tomohiro, additional, Kaeffer, Bertrand, additional, Kågedal, Katarina, additional, Kahana, Alon, additional, Kajimura, Shingo, additional, Kakhlon, Or, additional, Kalia, Manjula, additional, Kalvakolanu, Dhan V, additional, Kamada, Yoshiaki, additional, Kambas, Konstantinos, additional, Kaminskyy, Vitaliy O, additional, Kampinga, Harm H, additional, Kandouz, Mustapha, additional, Kang, Chanhee, additional, Kang, Rui, additional, Kang, Tae-Cheon, additional, Kanki, Tomotake, additional, Kanneganti, Thirumala-Devi, additional, Kanno, Haruo, additional, Kanthasamy, Anumantha G, additional, Kantorow, Marc, additional, Kaparakis-Liaskos, Maria, additional, Kapuy, Orsolya, additional, Karantza, Vassiliki, additional, Karim, Md Razaul, additional, Karmakar, Parimal, additional, Kaser, Arthur, additional, Kaushik, Susmita, additional, Kawula, Thomas, additional, Kaynar, A Murat, additional, Ke, Po-Yuan, additional, Ke, Zun-Ji, additional, Kehrl, John H, additional, Keller, Kate E, additional, Kemper, Jongsook Kim, additional, Kenworthy, Anne K, additional, Kepp, Oliver, additional, Kern, Andreas, additional, Kesari, Santosh, additional, Kessel, David, additional, Ketteler, Robin, additional, Kettelhut, Isis do Carmo, additional, Khambu, Bilon, additional, Khan, Muzamil Majid, additional, Khandelwal, Vinoth KM, additional, Khare, Sangeeta, additional, Kiang, Juliann G, additional, Kiger, Amy A, additional, Kihara, Akio, additional, Kim, Arianna L, additional, Kim, Cheol Hyeon, additional, Kim, Deok Ryong, additional, Kim, Do-Hyung, additional, Kim, Eung Kweon, additional, Kim, Hye Young, additional, Kim, Hyung-Ryong, additional, Kim, Jae-Sung, additional, Kim, Jeong Hun, additional, Kim, Jin Cheon, additional, Kim, Jin Hyoung, additional, Kim, Kwang Woon, additional, Kim, Michael D, additional, Kim, Moon-Moo, additional, Kim, Peter K, additional, Kim, Seong Who, additional, Kim, Soo-Youl, additional, Kim, Yong-Sun, additional, Kim, Yonghyun, additional, Kimchi, Adi, additional, Kimmelman, Alec C, additional, Kimura, Tomonori, additional, King, Jason S, additional, Kirkegaard, Karla, additional, Kirkin, Vladimir, additional, Kirshenbaum, Lorrie A, additional, Kishi, Shuji, additional, Kitajima, Yasuo, additional, Kitamoto, Katsuhiko, additional, Kitaoka, Yasushi, additional, Kitazato, Kaio, additional, Kley, Rudolf A, additional, Klimecki, Walter T, additional, Klinkenberg, Michael, additional, Klucken, Jochen, additional, Knævelsrud, Helene, additional, Knecht, Erwin, additional, Knuppertz, Laura, additional, Ko, Jiunn-Liang, additional, Kobayashi, Satoru, additional, Koch, Jan C, additional, Koechlin-Ramonatxo, Christelle, additional, Koenig, Ulrich, additional, Koh, Young Ho, additional, Köhler, Katja, additional, Kohlwein, Sepp D, additional, Koike, Masato, additional, Komatsu, Masaaki, additional, Kominami, Eiki, additional, Kong, Dexin, additional, Kong, Hee Jeong, additional, Konstantakou, Eumorphia G, additional, Kopp, Benjamin T, additional, Korcsmaros, Tamas, additional, Korhonen, Laura, additional, Korolchuk, Viktor I, additional, Koshkina, Nadya V, additional, Kou, Yanjun, additional, Koukourakis, Michael I, additional, Koumenis, Constantinos, additional, Kovács, Attila L, additional, Kovács, Tibor, additional, Kovacs, Werner J, additional, Koya, Daisuke, additional, Kraft, Claudine, additional, Krainc, Dimitri, additional, Kramer, Helmut, additional, Kravic-Stevovic, Tamara, additional, Krek, Wilhelm, additional, Kretz-Remy, Carole, additional, Krick, Roswitha, additional, Krishnamurthy, Malathi, additional, Kriston-Vizi, Janos, additional, Kroemer, Guido, additional, Kruer, Michael C, additional, Kruger, Rejko, additional, Ktistakis, Nicholas T, additional, Kuchitsu, Kazuyuki, additional, Kuhn, Christian, additional, Kumar, Addanki Pratap, additional, Kumar, Anuj, additional, Kumar, Ashok, additional, Kumar, Deepak, additional, Kumar, Dhiraj, additional, Kumar, Rakesh, additional, Kumar, Sharad, additional, Kundu, Mondira, additional, Kung, Hsing-Jien, additional, Kuno, Atsushi, additional, Kuo, Sheng-Han, additional, Kuret, Jeff, additional, Kurz, Tino, additional, Kwok, Terry, additional, Kwon, Taeg Kyu, additional, Kwon, Yong Tae, additional, Kyrmizi, Irene, additional, La Spada, Albert R, additional, Lafont, Frank, additional, Lahm, Tim, additional, Lakkaraju, Aparna, additional, Lam, Truong, additional, Lamark, Trond, additional, Lancel, Steve, additional, Landowski, Terry H, additional, Lane, Darius JR, additional, Lane, Jon D, additional, Lanzi, Cinzia, additional, Lapaquette, Pierre, additional, Lapierre, Louis R, additional, Laporte, Jocelyn, additional, Laukkarinen, Johanna, additional, Laurie, Gordon W, additional, Lavandero, Sergio, additional, Lavie, Lena, additional, LaVoie, Matthew J, additional, Law, Betty Yuen Kwan, additional, Law, Helen Ka-wai, additional, Law, Kelsey B, additional, Layfield, Robert, additional, Lazo, Pedro A, additional, Le Cam, Laurent, additional, Le Roch, Karine G, additional, Le Stunff, Hervé, additional, Leardkamolkarn, Vijittra, additional, Lecuit, Marc, additional, Lee, Byung-Hoon, additional, Lee, Che-Hsin, additional, Lee, Erinna F, additional, Lee, Gyun Min, additional, Lee, He-Jin, additional, Lee, Hsinyu, additional, Lee, Jae Keun, additional, Lee, Jongdae, additional, Lee, Ju-hyun, additional, Lee, Jun Hee, additional, Lee, Michael, additional, Lee, Myung-Shik, additional, Lee, Patty J, additional, Lee, Sam W, additional, Lee, Seung-Jae, additional, Lee, Shiow-Ju, additional, Lee, Stella Y, additional, Lee, Sug Hyung, additional, Lee, Sung Sik, additional, Lee, Sung-Joon, additional, Lee, Sunhee, additional, Lee, Ying-Ray, additional, Lee, Yong J, additional, Lee, Young H, additional, Leeuwenburgh, Christiaan, additional, Lefort, Sylvain, additional, Legouis, Renaud, additional, Lei, Jinzhi, additional, Lei, Qun-Ying, additional, Leib, David A, additional, Leibowitz, Gil, additional, Lekli, Istvan, additional, Lemaire, Stéphane D, additional, Lemasters, John J, additional, Lemberg, Marius K, additional, Lemoine, Antoinette, additional, Leng, Shuilong, additional, Lenz, Guido, additional, Lenzi, Paola, additional, Lerman, Lilach O, additional, Lettieri Barbato, Daniele, additional, Leu, Julia I-Ju, additional, Leung, Hing Y, additional, Levine, Beth, additional, Lewis, Patrick A, additional, Lezoualc'h, Frank, additional, Li, Chi, additional, Li, Faqiang, additional, Li, Feng-Jun, additional, Li, Jun, additional, Li, Ke, additional, Li, Lian, additional, Li, Min, additional, Li, Qiang, additional, Li, Rui, additional, Li, Sheng, additional, Li, Wei, additional, Li, Xiaotao, additional, Li, Yumin, additional, Lian, Jiqin, additional, Liang, Chengyu, additional, Liang, Qiangrong, additional, Liao, Yulin, additional, Liberal, Joana, additional, Liberski, Pawel P, additional, Lie, Pearl, additional, Lieberman, Andrew P, additional, Lim, Hyunjung Jade, additional, Lim, Kah-Leong, additional, Lim, Kyu, additional, Lima, Raquel T, additional, Lin, Chang-Shen, additional, Lin, Chiou-Feng, additional, Lin, Fang, additional, Lin, Fangming, additional, Lin, Fu-Cheng, additional, Lin, Kui, additional, Lin, Kwang-Huei, additional, Lin, Pei-Hui, additional, Lin, Tianwei, additional, Lin, Wan-Wan, additional, Lin, Yee-Shin, additional, Lin, Yong, additional, Linden, Rafael, additional, Lindholm, Dan, additional, Lindqvist, Lisa M, additional, Lingor, Paul, additional, Linkermann, Andreas, additional, Liotta, Lance A, additional, Lipinski, Marta M, additional, Lira, Vitor A, additional, Lisanti, Michael P, additional, Liton, Paloma B, additional, Liu, Bo, additional, Liu, Chong, additional, Liu, Chun-Feng, additional, Liu, Fei, additional, Liu, Hung-Jen, additional, Liu, Jianxun, additional, Liu, Jing-Jing, additional, Liu, Jing-Lan, additional, Liu, Ke, additional, Liu, Leyuan, additional, Liu, Liang, additional, Liu, Quentin, additional, Liu, Rong-Yu, additional, Liu, Shiming, additional, Liu, Shuwen, additional, Liu, Wei, additional, Liu, Xian-De, additional, Liu, Xiangguo, additional, Liu, Xiao-Hong, additional, Liu, Xinfeng, additional, Liu, Xu, additional, Liu, Xueqin, additional, Liu, Yang, additional, Liu, Yule, additional, Liu, Zexian, additional, Liu, Zhe, additional, Liuzzi, Juan P, additional, Lizard, Gérard, additional, Ljujic, Mila, additional, Lodhi, Irfan J, additional, Logue, Susan E, additional, Lokeshwar, Bal L, additional, Long, Yun Chau, additional, Lonial, Sagar, additional, Loos, Benjamin, additional, López-Otín, Carlos, additional, López-Vicario, Cristina, additional, Lorente, Mar, additional, Lorenzi, Philip L, additional, Lõrincz, Péter, additional, Los, Marek, additional, Lotze, Michael T, additional, Lovat, Penny E, additional, Lu, Binfeng, additional, Lu, Bo, additional, Lu, Jiahong, additional, Lu, Qing, additional, Lu, She-Min, additional, Lu, Shuyan, additional, Lu, Yingying, additional, Luciano, Frédéric, additional, Luckhart, Shirley, additional, Lucocq, John Milton, additional, Ludovico, Paula, additional, Lugea, Aurelia, additional, Lukacs, Nicholas W, additional, Lum, Julian J, additional, Lund, Anders H, additional, Luo, Honglin, additional, Luo, Jia, additional, Luo, Shouqing, additional, Luparello, Claudio, additional, Lyons, Timothy, additional, Ma, Jianjie, additional, Ma, Yi, additional, Ma, Yong, additional, Ma, Zhenyi, additional, Machado, Juliano, additional, Machado-Santelli, Glaucia M, additional, Macian, Fernando, additional, MacIntosh, Gustavo C, additional, MacKeigan, Jeffrey P, additional, Macleod, Kay F, additional, MacMicking, John D, additional, MacMillan-Crow, Lee Ann, additional, Madeo, Frank, additional, Madesh, Muniswamy, additional, Madrigal-Matute, Julio, additional, Maeda, Akiko, additional, Maeda, Tatsuya, additional, Maegawa, Gustavo, additional, Maellaro, Emilia, additional, Maes, Hannelore, additional, Magariños, Marta, additional, Maiese, Kenneth, additional, Maiti, Tapas K, additional, Maiuri, Luigi, additional, Maiuri, Maria Chiara, additional, Maki, Carl G, additional, Malli, Roland, additional, Malorni, Walter, additional, Maloyan, Alina, additional, Mami-Chouaib, Fathia, additional, Man, Na, additional, Mancias, Joseph D, additional, Mandelkow, Eva-Maria, additional, Mandell, Michael A, additional, Manfredi, Angelo A, additional, Manié, Serge N, additional, Manzoni, Claudia, additional, Mao, Kai, additional, Mao, Zixu, additional, Mao, Zong-Wan, additional, Marambaud, Philippe, additional, Marconi, Anna Maria, additional, Marelja, Zvonimir, additional, Marfe, Gabriella, additional, Margeta, Marta, additional, Margittai, Eva, additional, Mari, Muriel, additional, Mariani, Francesca V, additional, Marin, Concepcio, additional, Marinelli, Sara, additional, Mariño, Guillermo, additional, Markovic, Ivanka, additional, Marquez, Rebecca, additional, Martelli, Alberto M, additional, Martens, Sascha, additional, Martin, Katie R, additional, Martin, Seamus J, additional, Martin, Shaun, additional, Martin-Acebes, Miguel A, additional, Martín-Sanz, Paloma, additional, Martinand-Mari, Camille, additional, Martinet, Wim, additional, Martinez, Jennifer, additional, Martinez-Lopez, Nuria, additional, Martinez-Outschoorn, Ubaldo, additional, Martínez-Velázquez, Moisés, additional, Martinez-Vicente, Marta, additional, Martins, Waleska Kerllen, additional, Mashima, Hirosato, additional, Mastrianni, James A, additional, Matarese, Giuseppe, additional, Matarrese, Paola, additional, Mateo, Roberto, additional, Matoba, Satoaki, additional, Matsumoto, Naomichi, additional, Matsushita, Takehiko, additional, Matsuura, Akira, additional, Matsuzawa, Takeshi, additional, Mattson, Mark P, additional, Matus, Soledad, additional, Maugeri, Norma, additional, Mauvezin, Caroline, additional, Mayer, Andreas, additional, Maysinger, Dusica, additional, Mazzolini, Guillermo D, additional, McBrayer, Mary Kate, additional, McCall, Kimberly, additional, McCormick, Craig, additional, McInerney, Gerald M, additional, McIver, Skye C, additional, McKenna, Sharon, additional, McMahon, John J, additional, McNeish, Iain A, additional, Mechta-Grigoriou, Fatima, additional, Medema, Jan Paul, additional, Medina, Diego L, additional, Megyeri, Klara, additional, Mehrpour, Maryam, additional, Mehta, Jawahar L, additional, Mei, Yide, additional, Meier, Ute-Christiane, additional, Meijer, Alfred J, additional, Meléndez, Alicia, additional, Melino, Gerry, additional, Melino, Sonia, additional, de Melo, Edesio Jose Tenorio, additional, Mena, Maria A, additional, Meneghini, Marc D, additional, Menendez, Javier A, additional, Menezes, Regina, additional, Meng, Liesu, additional, Meng, Ling-hua, additional, Meng, Songshu, additional, Menghini, Rossella, additional, Menko, A Sue, additional, Menna-Barreto, Rubem FS, additional, Menon, Manoj B, additional, Meraz-Ríos, Marco A, additional, Merla, Giuseppe, additional, Merlini, Luciano, additional, Merlot, Angelica M, additional, Meryk, Andreas, additional, Meschini, Stefania, additional, Meyer, Joel N, additional, Mi, Man-tian, additional, Miao, Chao-Yu, additional, Micale, Lucia, additional, Michaeli, Simon, additional, Michiels, Carine, additional, Migliaccio, Anna Rita, additional, Mihailidou, Anastasia Susie, additional, Mijaljica, Dalibor, additional, Mikoshiba, Katsuhiko, additional, Milan, Enrico, additional, Miller-Fleming, Leonor, additional, Mills, Gordon B, additional, Mills, Ian G, additional, Minakaki, Georgia, additional, Minassian, Berge A, additional, Ming, Xiu-Fen, additional, Minibayeva, Farida, additional, Minina, Elena A, additional, Mintern, Justine D, additional, Minucci, Saverio, additional, Miranda-Vizuete, Antonio, additional, Mitchell, Claire H, additional, Miyamoto, Shigeki, additional, Miyazawa, Keisuke, additional, Mizushima, Noboru, additional, Mnich, Katarzyna, additional, Mograbi, Baharia, additional, Mohseni, Simin, additional, Moita, Luis Ferreira, additional, Molinari, Marco, additional, Molinari, Maurizio, additional, Møller, Andreas Buch, additional, Mollereau, Bertrand, additional, Mollinedo, Faustino, additional, Mongillo, Marco, additional, Monick, Martha M, additional, Montagnaro, Serena, additional, Montell, Craig, additional, Moore, Darren J, additional, Moore, Michael N, additional, Mora-Rodriguez, Rodrigo, additional, Moreira, Paula I, additional, Morel, Etienne, additional, Morelli, Maria Beatrice, additional, Moreno, Sandra, additional, Morgan, Michael J, additional, Moris, Arnaud, additional, Moriyasu, Yuji, additional, Morrison, Janna L, additional, Morrison, Lynda A, additional, Morselli, Eugenia, additional, Moscat, Jorge, additional, Moseley, Pope L, additional, Mostowy, Serge, additional, Motori, Elisa, additional, Mottet, Denis, additional, Mottram, Jeremy C, additional, Moussa, Charbel E-H, additional, Mpakou, Vassiliki E, additional, Mukhtar, Hasan, additional, Mulcahy Levy, Jean M, additional, Muller, Sylviane, additional, Muñoz-Moreno, Raquel, additional, Muñoz-Pinedo, Cristina, additional, Münz, Christian, additional, Murphy, Maureen E, additional, Murray, James T, additional, Murthy, Aditya, additional, Mysorekar, Indira U, additional, Nabi, Ivan R, additional, Nabissi, Massimo, additional, Nader, Gustavo A, additional, Nagahara, Yukitoshi, additional, Nagai, Yoshitaka, additional, Nagata, Kazuhiro, additional, Nagelkerke, Anika, additional, Nagy, Péter, additional, Naidu, Samisubbu R, additional, Nair, Sreejayan, additional, Nakano, Hiroyasu, additional, Nakatogawa, Hitoshi, additional, Nanjundan, Meera, additional, Napolitano, Gennaro, additional, Naqvi, Naweed I, additional, Nardacci, Roberta, additional, Narendra, Derek P, additional, Narita, Masashi, additional, Nascimbeni, Anna Chiara, additional, Natarajan, Ramesh, additional, Navegantes, Luiz C, additional, Nawrocki, Steffan T, additional, Nazarko, Taras Y, additional, Nazarko, Volodymyr Y, additional, Neill, Thomas, additional, Neri, Luca M, additional, Netea, Mihai G, additional, Netea-Maier, Romana T, additional, Neves, Bruno M, additional, Ney, Paul A, additional, Nezis, Ioannis P, additional, Nguyen, Hang TT, additional, Nguyen, Huu Phuc, additional, Nicot, Anne-Sophie, additional, Nilsen, Hilde, additional, Nilsson, Per, additional, Nishimura, Mikio, additional, Nishino, Ichizo, additional, Niso-Santano, Mireia, additional, Niu, Hua, additional, Nixon, Ralph A, additional, Njar, Vincent CO, additional, Noda, Takeshi, additional, Noegel, Angelika A, additional, Nolte, Elsie Magdalena, additional, Norberg, Erik, additional, Norga, Koenraad K, additional, Noureini, Sakineh Kazemi, additional, Notomi, Shoji, additional, Notterpek, Lucia, additional, Nowikovsky, Karin, additional, Nukina, Nobuyuki, additional, Nürnberger, Thorsten, additional, O'Donnell, Valerie B, additional, O'Donovan, Tracey, additional, O'Dwyer, Peter J, additional, Oehme, Ina, additional, Oeste, Clara L, additional, Ogawa, Michinaga, additional, Ogretmen, Besim, additional, Ogura, Yuji, additional, Oh, Young J, additional, Ohmuraya, Masaki, additional, Ohshima, Takayuki, additional, Ojha, Rani, additional, Okamoto, Koji, additional, Okazaki, Toshiro, additional, Oliver, F Javier, additional, Ollinger, Karin, additional, Olsson, Stefan, additional, Orban, Daniel P, additional, Ordonez, Paulina, additional, Orhon, Idil, additional, Orosz, Laszlo, additional, O'Rourke, Eyleen J, additional, Orozco, Helena, additional, Ortega, Angel L, additional, Ortona, Elena, additional, Osellame, Laura D, additional, Oshima, Junko, additional, Oshima, Shigeru, additional, Osiewacz, Heinz D, additional, Otomo, Takanobu, additional, Otsu, Kinya, additional, Ou, Jing-hsiung James, additional, Outeiro, Tiago F, additional, Ouyang, Dong-yun, additional, Ouyang, Hongjiao, additional, Overholtzer, Michael, additional, Ozbun, Michelle A, additional, Ozdinler, P Hande, additional, Ozpolat, Bulent, additional, Pacelli, Consiglia, additional, Paganetti, Paolo, additional, Page, Guylène, additional, Pages, Gilles, additional, Pagnini, Ugo, additional, Pajak, Beata, additional, Pak, Stephen C, additional, Pakos-Zebrucka, Karolina, additional, Pakpour, Nazzy, additional, Palková, Zdena, additional, Palladino, Francesca, additional, Pallauf, Kathrin, additional, Pallet, Nicolas, additional, Palmieri, Marta, additional, Paludan, Søren R, additional, Palumbo, Camilla, additional, Palumbo, Silvia, additional, Pampliega, Olatz, additional, Pan, Hongming, additional, Pan, Wei, additional, Panaretakis, Theocharis, additional, Pandey, Aseem, additional, Pantazopoulou, Areti, additional, Papackova, Zuzana, additional, Papademetrio, Daniela L, additional, Papassideri, Issidora, additional, Papini, Alessio, additional, Parajuli, Nirmala, additional, Pardo, Julian, additional, Parekh, Vrajesh V, additional, Parenti, Giancarlo, additional, Park, Jong-In, additional, Park, Junsoo, additional, Park, Ohkmae K, additional, Parker, Roy, additional, Parlato, Rosanna, additional, Parys, Jan B, additional, Parzych, Katherine R, additional, Pasquet, Jean-Max, additional, Pasquier, Benoit, additional, Pasumarthi, Kishore BS, additional, Patschan, Daniel, additional, Patterson, Cam, additional, Pattingre, Sophie, additional, Pattison, Scott, additional, Pause, Arnim, additional, Pavenstädt, Hermann, additional, Pavone, Flaminia, additional, Pedrozo, Zully, additional, Peña, Fernando J, additional, Peñalva, Miguel A, additional, Pende, Mario, additional, Peng, Jianxin, additional, Penna, Fabio, additional, Penninger, Josef M, additional, Pensalfini, Anna, additional, Pepe, Salvatore, additional, Pereira, Gustavo JS, additional, Pereira, Paulo C, additional, Pérez-de la Cruz, Verónica, additional, Pérez-Pérez, María Esther, additional, Pérez-Rodríguez, Diego, additional, Pérez-Sala, Dolores, additional, Perier, Celine, additional, Perl, Andras, additional, Perlmutter, David H, additional, Perrotta, Ida, additional, Pervaiz, Shazib, additional, Pesonen, Maija, additional, Pessin, Jeffrey E, additional, Peters, Godefridus J, additional, Petersen, Morten, additional, Petrache, Irina, additional, Petrof, Basil J, additional, Petrovski, Goran, additional, Phang, James M, additional, Piacentini, Mauro, additional, Pierdominici, Marina, additional, Pierre, Philippe, additional, Pierrefite-Carle, Valérie, additional, Pietrocola, Federico, additional, Pimentel-Muiños, Felipe X, additional, Pinar, Mario, additional, Pineda, Benjamin, additional, Pinkas-Kramarski, Ronit, additional, Pinti, Marcello, additional, Pinton, Paolo, additional, Piperdi, Bilal, additional, Piret, James M, additional, Platanias, Leonidas C, additional, Platta, Harald W, additional, Plowey, Edward D, additional, Pöggeler, Stefanie, additional, Poirot, Marc, additional, Polčic, Peter, additional, Poletti, Angelo, additional, Poon, Audrey H, additional, Popelka, Hana, additional, Popova, Blagovesta, additional, Poprawa, Izabela, additional, Poulose, Shibu M, additional, Poulton, Joanna, additional, Powers, Scott K, additional, Powers, Ted, additional, Pozuelo-Rubio, Mercedes, additional, Prak, Krisna, additional, Prange, 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additional, Rasmussen, Blake B, additional, Rasse, Tobias M, additional, Ratovitski, Edward A, additional, Rautou, Pierre-Emmanuel, additional, Ray, Swapan K, additional, Razani, Babak, additional, Reed, Bruce H, additional, Reggiori, Fulvio, additional, Rehm, Markus, additional, Reichert, Andreas S, additional, Rein, Theo, additional, Reiner, David J, additional, Reits, Eric, additional, Ren, Jun, additional, Ren, Xingcong, additional, Renna, Maurizio, additional, Reusch, Jane EB, additional, Revuelta, Jose L, additional, Reyes, Leticia, additional, Rezaie, Alireza R, additional, Richards, Robert I, additional, Richardson, Des R, additional, Richetta, Clémence, additional, Riehle, Michael A, additional, Rihn, Bertrand H, additional, Rikihisa, Yasuko, additional, Riley, Brigit E, additional, Rimbach, Gerald, additional, Rippo, Maria Rita, additional, Ritis, Konstantinos, additional, Rizzi, Federica, additional, Rizzo, Elizete, additional, Roach, Peter J, additional, Robbins, Jeffrey, 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2016
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31. 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

32. Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease

Author

Consortium, International Parkinson's Disease Genomics, 2, Wellcome Trust Case Control Consortium, Schulte, Claudia, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Sidransky, Ellen, de Silva, Rohan, Smith, Colin, Spencer, Chris C A, Stefánsson, Hreinn, Lesage, Suzanne, Steinberg, Stacy, Stockton, Joanna D, Strange, Amy, Su, Zhan, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J, Sveinbjörnsdóttir, Sigurlaug, Uitterlinden, André G, Vandrovcova, Jana, Velseboer, Daan, Vidailhet, Marie, Vukcevic, Damjan, Walker, Robert, van de Warrenburg, Bart, Weale, Michael E, Williams, Nigel, Williams-Gray, Caroline H, Amouyel, Philippe, Wickremaratchi, Mirdhu, Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Donnelly, Peter, Singleton, Andrew B, Hardy, John, Heutink, Peter, Brice, Alexis, Gasser, Thomas, Arepalli, Sampath, Wood, Nicholas W, Band, Gavin, Barker, Roger A, Bellinguez, Céline, Ben-Shlomo, Yoav, Berendse, Henk W, Plagnol, Vincent, Berg, Daniela, Bhatia, Kailash, de Bie, Rob M A, Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Nalls, Michael A, 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, Bras, Jose M, 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, Hernandez, Dena G, Foltynie, Thomas, Freeman, Colin, Gao, Jianjun, Gardner, Michelle, Gibbs, J Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Gústafsson, Ómar, Harris, Clare, Sharma, Manu, Hellenthal, Garrett, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Huber, Heiko, Hudson, Gavin, Hunt, Sarah E, Sheerin, Una-Marie, Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, Saad, Mohamad, Moorby, Catriona, Moore, Matthew, Morris, Huw, Morrison, Karen E, Mudanohwo, Ese, O'Sullivan, Sean S, Pearson, Justin, Pearson, Richard, Perlmutter, Joel S, Pétursson, Hjörvar, Simón-Sánchez, Javier, Pirinen, Matti, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Neuroscience Campus Amsterdam - Neurodegeneration, Pollak, Pierre, Human genetics, Neurology, Anatomy and neurosciences, NCA - Neurodegeneration, ANS - Amsterdam Neuroscience, ACS - Amsterdam Cardiovascular Sciences, and Graduate School

Subjects
Cancer Research, Candidate gene, Genome-wide association study, QH426-470, 0302 clinical medicine, genetics [Parkinson Disease], Parkinson Disease/genetics, Genetics (clinical), Genetics, 0303 health sciences, education.field_of_study, Brain, Parkinson Disease, Polymorphism, Single Nucleotide/genetics, Genetic Loci/genetics, genetics [Polymorphism, Single Nucleotide], Research Article, Population, Single-nucleotide polymorphism, genetics [Genetic Loci], Biology, Polymorphism, Single Nucleotide, Risk Assessment, 03 medical and health sciences, Genome-Wide Association Studies, Brain/metabolism, Humans, Genetic Predisposition to Disease, ddc:610, education, Molecular Biology, Genotyping, QH426, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Genetic association, GPNMB, Gene Expression Profiling, Haplotype, DNA Methylation, ddc:616.8, Gene Expression Regulation, metabolism [Brain], Genetic Loci, Genetics of Disease, RC0321, 030217 neurology & neurosurgery, Neuroscience, Genome-Wide Association Study
Abstract

A previous genome-wide association (GWA) meta-analysis of 12,386 PD cases and 21,026 controls conducted by the International Parkinson's Disease Genomics Consortium (IPDGC) discovered or confirmed 11 Parkinson's disease (PD) loci. This first analysis of the two-stage IPDGC study focused on the set of loci that passed genome-wide significance in the first stage GWA scan. However, the second stage genotyping array, the ImmunoChip, included a larger set of 1,920 SNPs selected on the basis of the GWA analysis. Here, we analyzed this set of 1,920 SNPs, and we identified five additional PD risk loci (combined p, Author Summary This paper describes the largest case-control analysis of Parkinson's disease to date, with a combined sample set of over 12,000 cases and 21,000 controls. After combining our findings with an independent replication dataset of more than 3,000 cases and 29,000 controls, we found five additional PD risk loci in addition to the 11 loci previously identified in earlier consortium efforts. This successful study further demonstrates the power of the GWA scan experimental design to find new loci contributing to disease risk, even in the context of complex disorders like Parkinson's disease. These new findings provide insights into the etiology of PD and will promote a better understanding of its pathogenesis.

Published
2011

34. Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes

Author

Cnop, Miriam, primary, Igoillo-Esteve, Mariana, additional, Rai, Myriam, additional, Begu, Audrey, additional, Serroukh, Yasmina, additional, Depondt, Chantal, additional, Musuaya, Anyishai E., additional, Marhfour, Ihsane, additional, Ladrière, Laurence, additional, Moles Lopez, Xavier, additional, Lefkaditis, Dionysios, additional, Moore, Fabrice, additional, Brion, Jean-Pierre, additional, Cooper, J. Mark, additional, Schapira, Anthony H. V., additional, Clark, Anne, additional, Koeppen, Arnulf H., additional, Marchetti, Piero, additional, Pandolfo, Massimo, additional, Eizirik, Décio L., additional, and Féry, Françoise, additional

Published
2012
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42. GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

Author

Al-Mahdawi, Sahar, primary, Pinto, Ricardo Mouro, additional, Varshney, Dhaval, additional, Lawrence, Lorraine, additional, Lowrie, Margaret B., additional, Hughes, Sian, additional, Webster, Zoe, additional, Blake, Julian, additional, Cooper, J. Mark, additional, King, Rosalind, additional, and Pook, Mark A., additional

Published
2006
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49. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia

Author

Lodi, Raffaele, primary, Hart, Paul E., additional, Rajagopalan, Bheeshma, additional, Taylor, Doris J., additional, Crilley, Jenifer G., additional, Bradley, Jane L., additional, Blamire, Andrew M., additional, Manners, David, additional, Styles, Peter, additional, Schapira, Anthony H.V., additional, and Cooper, J. Mark, additional

Published
2001
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50. A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy

Author

Rahman, Shamima, primary, Taanman, Jan-Willem, additional, Cooper, J. Mark, additional, Nelson, Isabelle, additional, Hargreaves, Ian, additional, Meunier, Brigitte, additional, Hanna, Michael G, additional, García, José J., additional, Capaldi, Roderick A., additional, Lake, Brian D., additional, Leonard, James V., additional, and Schapira, Anthony H.V., additional

Published
1999
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