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22 results on '"Leal, Thiago Peixoto"'

1. Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas

Author

Borda, Victor, Loesch, Douglas P., Guo, Bing, Laboulaye, Roland, Veliz-Otani, Diego, French, Jennifer N., Leal, Thiago Peixoto, Gogarten, Stephanie M., Ikpe, Sunday, Gouveia, Mateus H., Mendes, Marla, Abecasis, Gonçalo R., Alvim, Isabela, Arboleda-Bustos, Carlos E., Arboleda, Gonzalo, Arboleda, Humberto, Barreto, Mauricio L., Barwick, Lucas, Bezzera, Marcos A., Blangero, John, Borges, Vanderci, Caceres, Omar, Cai, Jianwen, Chana-Cuevas, Pedro, Chen, Zhanghua, Custer, Brian, Dean, Michael, Dinardo, Carla, Domingos, Igor, Duggirala, Ravindranath, Dieguez, Elena, Fernandez, Willian, Ferraz, Henrique B., Gilliland, Frank, Guio, Heinner, Horta, Bernardo, Curran, Joanne E., Johnsen, Jill M., Kaplan, Robert C., Kelly, Shannon, Kenny, Eimear E., Konkle, Barbara A., Kooperberg, Charles, Lescano, Andres, Lima-Costa, M. Fernanda, Loos, Ruth J.F., Manichaikul, Ani, Meyers, Deborah A., Naslavsky, Michel S., Nickerson, Deborah A., North, Kari E., Padilla, Carlos, Preuss, Michael, Raggio, Victor, Reiner, Alexander P., Rich, Stephen S., Rieder, Carlos R., Rienstra, Michiel, Rotter, Jerome I., Rundek, Tatjana, Sacco, Ralph L., Sanchez, Cesar, Sankaran, Vijay G., Santos-Lobato, Bruno Lopes, Schumacher-Schuh, Artur Francisco, Scliar, Marilia O., Silverman, Edwin K., Sofer, Tamar, Lasky-Su, Jessica, Tumas, Vitor, Weiss, Scott T., Mata, Ignacio F., Hernandez, Ryan D., Tarazona-Santos, Eduardo, and O’Connor, Timothy D.

Published
2024
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2. Author Correction: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data

Author

Leonard, Hampton L., Murtadha, Ruqaya, Martinez-Carrasco, Alejandro, Jama, Alina, Müller-Nedebock, Amica Corda, Gil-Martinez, Ana-Luisa, Illarionova, Anastasia, Moore, Anni, Bustos, Bernabe I., Jadhav, Bharati, Huxford, Brook, Storm, Catherine, Towns, Clodagh, Vitale, Dan, Chetty, Devina, Yu, Eric, Grenn, Francis P., Salazar, Gabriela, Rateau, Geoffrey, Iwaki, Hirotaka, Elsayed, Inas, Foote, Isabelle Francesca, Jansen van Rensburg, Zuné, Kim, Jonggeol Jeff, Yuan, Jie, Lake, Julie, Brolin, Kajsa, Senkevich, Konstantin, Wu, Lesley, Tan, Manuela M. X., Periñán, María Teresa, Makarious, Mary B., Ta, Michael, Pillay, Nikita Simone, Betancor, Oswaldo Lorenzo, Reyes-Pérez, Paula R., Alvarez Jerez, Pilar, Saini, Prabhjyot, al-Ouran, Rami, Sivakumar, Ramiya, Real, Raquel, Reynolds, Regina H., Hu, Ruifneg, Abrahams, Shameemah, Rao, Shilpa C., Antar, Tarek, Leal, Thiago Peixoto, Iankova, Vassilena, Scotton, William J., Song, Yeajin, Singleton, Andrew, Nalls, Mike A., Dey, Sumit, Bandres-Ciga, Sara, Blauwendraat, Cornelis, and Noyce, Alastair J.

Published
2023
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3. The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data

Author

Leonard, Hampton L., Murtadha, Ruqaya, Martinez-Carrasco, Alejandro, Jama, Alina, Müller-Nedebock, Amica Corda, Gil-Martinez, Ana-Luisa, Illarionova, Anastasia, Moore, Anni, Bustos, Bernabe I., Jadhav, Bharati, Huxford, Brook, Storm, Catherine, Towns, Clodagh, Vitale, Dan, Chetty, Devina, Yu, Eric, Grenn, Francis P., Salazar, Gabriela, Rateau, Geoffrey, Iwaki, Hirotaka, Elsayed, Inas, Foote, Isabelle Francesca, Jansen van Rensburg, Zuné, Kim, Jonggeol Jeff, Yuan, Jie, Lake, Julie, Brolin, Kajsa, Senkevich, Konstantin, Wu, Lesley, Tan, Manuela M. X., Periñán, María Teresa, Makarious, Mary B., Ta, Michael, Pillay, Nikita Simone, Betancor, Oswaldo Lorenzo, Reyes-Pérez, Paula R., Alvarez Jerez, Pilar, Saini, Prabhjyot, al-Ouran, Rami, Sivakumar, Ramiya, Real, Raquel, Reynolds, Regina H., Hu, Ruifneg, Abrahams, Shameemah, Rao, Shilpa C., Antar, Tarek, Leal, Thiago Peixoto, Iankova, Vassilena, Scotton, William J., Song, Yeajin, Singleton, Andrew, Nalls, Mike A., Dey, Sumit, Bandres-Ciga, Sara, Blauwendraat, Cornelis, and Noyce, Alastair J.

Published
2023
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4. NAToRA, a relatedness-pruning method to minimize the loss of dataset size in genetic and omics analyses

Author

Leal, Thiago Peixoto, Furlan, Vinicius C, Gouveia, Mateus Henrique, Saraiva Duarte, Julia Maria, Fonseca, Pablo AS, Tou, Rafael, Scliar, Marilia de Oliveira, Araujo, Gilderlanio Santana de, Costa, Lucas F., Zolini, Camila, Peixoto, Maria Gabriela Campolina Diniz, Carvalho, Maria Raquel Santos, Lima-Costa, Maria Fernanda, Gilman, Robert H, Tarazona-Santos, Eduardo, and Rodrigues, Maíra Ribeiro

Published
2022
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5. Genomic Ancestry, Self-Rated Health and Its Association with Mortality in an Admixed Population: 10 Year Follow-Up of the Bambui-Epigen (Brazil) Cohort Study of Ageing

Author

Lima-Costa, M Fernanda, Macinko, James, de Melo Mambrini, Juliana Vaz, Cesar, Cibele C, Peixoto, Sérgio V, Magalhães, Wagner CS, Horta, Bernardo L, Barreto, Mauricio, Castro-Costa, Erico, Firmo, Josélia OA, Proietti, Fernando A, Leal, Thiago Peixoto, Rodrigues, Maira R, Pereira, Alexandre, and Tarazona-Santos, Eduardo

Subjects
Epidemiology, Public Health, Health Sciences, Human Society, Genetics, Good Health and Well Being, Aging, Brazil, Cohort Studies, Follow-Up Studies, Genome, Human, Health Status, Humans, Self-Assessment, General Science & Technology
Abstract

BackgroundSelf-rated health (SRH) has strong predictive value for mortality in different contexts and cultures, but there is inconsistent evidence on ethnoracial disparities in SRH in Latin America, possibly due to the complexity surrounding ethnoracial self-classification.Materials/methodsWe used 370,539 Single Nucleotide Polymorphisms (SNPs) to examine the association between individual genomic proportions of African, European and Native American ancestry, and ethnoracial self-classification, with baseline and 10-year SRH trajectories in 1,311 community dwelling older Brazilians. We also examined whether genomic ancestry and ethnoracial self-classification affect the predictive value of SRH for subsequent mortality.ResultsEuropean ancestry predominated among participants, followed by African and Native American (median = 84.0%, 9.6% and 5.3%, respectively); the prevalence of Non-White (Mixed and Black) was 39.8%. Persons at higher levels of African and Native American genomic ancestry, and those self-identified as Non-White, were more likely to report poor health than other groups, even after controlling for socioeconomic conditions and an array of self-reported and objective physical health measures. Increased risks for mortality associated with worse SRH trajectories were strong and remarkably similar (hazard ratio ~3) across all genomic ancestry and ethno-racial groups.ConclusionsOur results demonstrated for the first time that higher levels of African and Native American genomic ancestry--and the inverse for European ancestry--were strongly correlated with worse SRH in a Latin American admixed population. Both genomic ancestry and ethnoracial self-classification did not modify the strong association between baseline SRH or SRH trajectory, and subsequent mortality.

Published
2015

6. Sickle cell allele HBB‐rs334(T) is associated with decreased risk of childhood Burkitt lymphoma in East Africa

Author

Hong, Hyokyoung G., primary, Gouveia, Mateus H., additional, Ogwang, Martin D., additional, Kerchan, Patrick, additional, Reynolds, Steven J., additional, Tenge, Constance N., additional, Were, Pamela A., additional, Kuremu, Robert T., additional, Wekesa, Walter N., additional, Masalu, Nestory, additional, Kawira, Esther, additional, Kinyera, Tobias, additional, Wang, Xunde, additional, Zhou, Jiefu, additional, Leal, Thiago Peixoto, additional, Otim, Isaac, additional, Legason, Ismail D., additional, Nabalende, Hadijah, additional, Dhudha, Herry, additional, Mumia, Mediatrix, additional, Baker, Francine S., additional, Okusolubo, Temiloluwa, additional, Ayers, Leona W., additional, Bhatia, Kishor, additional, Goedert, James J., additional, Woo, Joshua, additional, Manning, Michelle, additional, Cole, Nathan, additional, Luo, Wen, additional, Hicks, Belynda, additional, Chagaluka, George, additional, Johnston, W. Thomas, additional, Mutalima, Nora, additional, Borgstein, Eric, additional, Liomba, George N., additional, Kamiza, Steve, additional, Mkandawire, Nyengo, additional, Mitambo, Collins, additional, Molyneux, Elizabeth M., additional, Newton, Robert, additional, Hutchinson, Amy, additional, Yeager, Meredith, additional, Adeyemo, Adebowale A., additional, Thein, Swee Lay, additional, Rotimi, Charles N., additional, Chanock, Stephen J., additional, Prokunina‐Olsson, Ludmila, additional, and Mbulaiteye, Sam M., additional

Published
2023
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9. Sickle cell allele HBB‐rs334(T) is associated with decreased risk of childhood Burkitt lymphoma in East Africa.

Author

Hong, Hyokyoung G., Gouveia, Mateus H., Ogwang, Martin D., Kerchan, Patrick, Reynolds, Steven J., Tenge, Constance N., Were, Pamela A., Kuremu, Robert T., Wekesa, Walter N., Masalu, Nestory, Kawira, Esther, Kinyera, Tobias, Wang, Xunde, Zhou, Jiefu, Leal, Thiago Peixoto, Otim, Isaac, Legason, Ismail D., Nabalende, Hadijah, Dhudha, Herry, and Mumia, Mediatrix

Published
2024
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10. Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

Author

Le Guen, Yann, Luo, Guo, Ambati, Aditya, Damotte, Vincent, Jansen, Iris, Yu, Eric, Nicolas, Aude, de Rojasj, Itziar, Leal, Thiago Peixoto, Miyashita, Akinori, Bellenguez, Celine, Lian, Michelle Mulan, Parveen, Kayenat, Morizono, Takashi, Park, Hyeonseul, Grenier-Boley, Benjamin, Naito, Tatsuhiko, Kucukali, Fahri, Talyansky, Seth D., Yogeshwar, Selina Maria, Sempere, Vicente, Satake, Wataru, Alvarez, Victoria, Arosio, Beatrice, Belloy, Michael E., Benussi, Luisa, Boland, Anne, Borroni, Barbara, Bullido, Maria J., Caffarra, Paolo, Clarimon, Jordi, Daniele, Antonio, Darling, Daniel, Debette, Stephanie, Deleuze, Jean-Francois, Dichgans, Martin, Dufouil, Carole, During, Emmanuel, Duzel, Emrah, Galimberti, Daniela, Garcia-Ribas, Guillermo, Maria Garcia-Alberca, Jose, Garcia-Gonzalez, Pablo, Giedraitis, Vilmantas, Goldhardt, Oliver, Graff, Caroline, Grunblatt, Edna, Hanon, Olivier, Hausner, Lucrezia, Heilmann-Heimbach, Stefanie, Holstege, Henne, Hort, Jakub, Jung, Yoo Jin, Jurgen, Deckert, Kern, Silke, Kuulasmaa, Teemu, Lee, Kun Ho, Lin, Ling, Masullo, Carlo, Mecocci, Patrizia, Mehrabian, Shima, de Mendonca, Alexandre, Boada, Merce, Mir, Pablo, Moebus, Susanne, Moreno, Fermin, Nacmias, Benedetta, Nicolas, Gael, Niida, Shumpei, Nordestgaard, Borge G., Papenberg, Goran, Papma, Janne, Parnetti, Lucilla, Pasquier, Florence, Pastor, Pau, Peters, Oliver, Pijnenburg, Yolande A. L., Pinol-Ripoll, Gerard, Popp, Julius, Porcel, Laura Molina, Jordi Perez-Tur, Raquel Puertaj, Rainero, Innocenzo, Ramakers, Inez, Real, Luis M., Riedel-Heller, Steffi, Rodriguez-Rodriguez, Eloy, Ross, Owen A., Royo, Jose Luis, Rujescu, Dan, Scarmeas, Nikolaos, Scheltens, Philip, Scherbaum, Norbert, Schneider, Anja, Seripa, Davide, Skoog, Ingmar, Solfrizzi, Vincenzo, Spalletta, Gianfranco, Squassina, Alessio, van Swieten, John, Sanchez-Valle, Raquel, Tan, Eng-King, Tegos, Thomas, Teunissen, Charlotte, Thomassen, Jesper Qvist, Tremolizzo, Lucio, Vyhnalek, Martin, Verhey, Frans, Waern, Margda, Wiltfang, Jens, Zhangc, Jing, Zetterberg, Henrik, Blennow, Kaj, He, Zihuai, Williams, Julie, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick G., Andreassen, Ole A., Van Duin, Cornelia, Tsolaki, Magda, Sanchez-Juan, Pascual, Frikke-Schmidt, Ruth, Sleegers, Kristel, Todau, Tatsushi, Zettergren, Anna, Ingelsson, Martin, Okada, Yukinori, Rossi, Giacomina, Hiltunen, Mikko, Gim, Jungsoo, Ozaki, Kouichi, Sims, Rebecca, Foo, Jia Nee, van der Fliere, Wiesje, Ikeuchi, Takeshi, Ramirez, Alfredo, Mata, Ignacio, Ruiz, Agustin, Gan-Or, Ziv, Lambert, Jean-Charles, Greicius, Michael D., Mignot, Emmanuel, Le Guen, Yann, Luo, Guo, Ambati, Aditya, Damotte, Vincent, Jansen, Iris, Yu, Eric, Nicolas, Aude, de Rojasj, Itziar, Leal, Thiago Peixoto, Miyashita, Akinori, Bellenguez, Celine, Lian, Michelle Mulan, Parveen, Kayenat, Morizono, Takashi, Park, Hyeonseul, Grenier-Boley, Benjamin, Naito, Tatsuhiko, Kucukali, Fahri, Talyansky, Seth D., Yogeshwar, Selina Maria, Sempere, Vicente, Satake, Wataru, Alvarez, Victoria, Arosio, Beatrice, Belloy, Michael E., Benussi, Luisa, Boland, Anne, Borroni, Barbara, Bullido, Maria J., Caffarra, Paolo, Clarimon, Jordi, Daniele, Antonio, Darling, Daniel, Debette, Stephanie, Deleuze, Jean-Francois, Dichgans, Martin, Dufouil, Carole, During, Emmanuel, Duzel, Emrah, Galimberti, Daniela, Garcia-Ribas, Guillermo, Maria Garcia-Alberca, Jose, Garcia-Gonzalez, Pablo, Giedraitis, Vilmantas, Goldhardt, Oliver, Graff, Caroline, Grunblatt, Edna, Hanon, Olivier, Hausner, Lucrezia, Heilmann-Heimbach, Stefanie, Holstege, Henne, Hort, Jakub, Jung, Yoo Jin, Jurgen, Deckert, Kern, Silke, Kuulasmaa, Teemu, Lee, Kun Ho, Lin, Ling, Masullo, Carlo, Mecocci, Patrizia, Mehrabian, Shima, de Mendonca, Alexandre, Boada, Merce, Mir, Pablo, Moebus, Susanne, Moreno, Fermin, Nacmias, Benedetta, Nicolas, Gael, Niida, Shumpei, Nordestgaard, Borge G., Papenberg, Goran, Papma, Janne, Parnetti, Lucilla, Pasquier, Florence, Pastor, Pau, Peters, Oliver, Pijnenburg, Yolande A. L., Pinol-Ripoll, Gerard, Popp, Julius, Porcel, Laura Molina, Jordi Perez-Tur, Raquel Puertaj, Rainero, Innocenzo, Ramakers, Inez, Real, Luis M., Riedel-Heller, Steffi, Rodriguez-Rodriguez, Eloy, Ross, Owen A., Royo, Jose Luis, Rujescu, Dan, Scarmeas, Nikolaos, Scheltens, Philip, Scherbaum, Norbert, Schneider, Anja, Seripa, Davide, Skoog, Ingmar, Solfrizzi, Vincenzo, Spalletta, Gianfranco, Squassina, Alessio, van Swieten, John, Sanchez-Valle, Raquel, Tan, Eng-King, Tegos, Thomas, Teunissen, Charlotte, Thomassen, Jesper Qvist, Tremolizzo, Lucio, Vyhnalek, Martin, Verhey, Frans, Waern, Margda, Wiltfang, Jens, Zhangc, Jing, Zetterberg, Henrik, Blennow, Kaj, He, Zihuai, Williams, Julie, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick G., Andreassen, Ole A., Van Duin, Cornelia, Tsolaki, Magda, Sanchez-Juan, Pascual, Frikke-Schmidt, Ruth, Sleegers, Kristel, Todau, Tatsushi, Zettergren, Anna, Ingelsson, Martin, Okada, Yukinori, Rossi, Giacomina, Hiltunen, Mikko, Gim, Jungsoo, Ozaki, Kouichi, Sims, Rebecca, Foo, Jia Nee, van der Fliere, Wiesje, Ikeuchi, Takeshi, Ramirez, Alfredo, Mata, Ignacio, Ruiz, Agustin, Gan-Or, Ziv, Lambert, Jean-Charles, Greicius, Michael D., and Mignot, Emmanuel

Abstract

Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson's disease (PD) and Alzheimer's disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1* 04:07, and intermediary with HLA-DRB1* 04:01 and HLA- DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased A beta 42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues.

Published
2023
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11. The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data

Author

Michael J. Fox Foundation for Parkinson's Research, Aligning Science Against Parkinson's, National Institutes of Health (US), National Institute on Aging (US), National Institute of Neurological Disorders and Stroke (US), Leonard, Hampton [0000-0003-2390-8110], Illarionova, Anastasia [0000-0002-1711-7155], Moore, Anni [0000-0003-1953-6449], Bustos, Bernabé I. [0000-0003-2679-9503], Huxford, Brook [0000-0002-5908-6983], Storm, Catherine S. [0000-0003-4957-1712], Towns, Clodagh [0000-0001-8418-6241], Yu, Eric [0000-0003-3525-4564], Elsayed, Inas [0000-0003-4646-8218], Lake, Julie [0000-0002-3441-2455], Brolin, Kajsa [0000-0003-4832-922X], Senkevich, Konstantin [0000-0003-3407-5716], Tan, Manuela M. X. [0000-0001-5835-669X], Makarious, Mary B [.0000-0002-7978-1051], Pillay, Nikita Simone [0000-0002-9058-0920], Betancor, Oswaldo Lorenzo [0000-0002-5607-8363], Real, Raquel [0000-0001-8117-742X], Reynolds, Regina H. [0000-0001-6470-7919], Scotton, William J. [0000-0003-0607-3190], Singleton, Andrew [0000-0001-5606-700X], Dey, Sumit [0000-0002-9087-4486], Blauwendraat, Cornelis [0000-0001-9358-8111], Noyce, Alastair [0000-0003-3027-5497], Leonard, Hampton, Murtadha, Ruqaya, Martínez-Carrasco, Alejandro, Jama, Alina, Müller-Nedebock, Amica Corda, Gil-Martínez, Ana Luisa, Illarionova, Anastasia, Moore, Anni, Bustos, Bernabé I., Jadhav, Bharati, Huxford, Brook, Storm, Catherine S., Towns, Clodagh, Vitale, Dan, Chetty, Devina, Yu, Eric, Grenn, Francis P., Salazar, Gabriela, Rateau, Geoffrey, Iwaki, Hirotaka, Elsayed, Inas, Foote, Isabelle Francesca, Jansen van Rensburg, Zuné, Kim, Jonggeol Jeff, Yuan, Jie, Lake, Julie, Brolin, Kajsa, Senkevich, Konstantin, Wu, Lesley, Tan, Manuela M. X., Periñán, María Teresa, Makarious, Mary B., Ta, Michael, Pillay, Nikita Simone, Betancor, Oswaldo Lorenzo, Reyes-Pérez, Paula R., Álvarez Jerez, Pilar, Saini, Prabhjyot, Al-Ouran, Rami, Sivakumar, Ramiya, Real, Raquel, Reynolds, Regina H., Hu, Ruifneg, Abrahams, Shameemah, Rao, Shilpa C., Antar, Tarek, Leal, Thiago Peixoto, Iankova, Vassilena, Scotton, William J., Song, Yeajin, Singleton, Andrew, Nalls, Mike A., Dey, Sumit, Bandres-Ciga, Sara, Blauwendraat, Cornelis, Noyce, Alastair, International Parkinson’s Disease Genomics Consortium, Global Parkinson’s Genetics Program, Michael J. Fox Foundation for Parkinson's Research, Aligning Science Against Parkinson's, National Institutes of Health (US), National Institute on Aging (US), National Institute of Neurological Disorders and Stroke (US), Leonard, Hampton [0000-0003-2390-8110], Illarionova, Anastasia [0000-0002-1711-7155], Moore, Anni [0000-0003-1953-6449], Bustos, Bernabé I. [0000-0003-2679-9503], Huxford, Brook [0000-0002-5908-6983], Storm, Catherine S. [0000-0003-4957-1712], Towns, Clodagh [0000-0001-8418-6241], Yu, Eric [0000-0003-3525-4564], Elsayed, Inas [0000-0003-4646-8218], Lake, Julie [0000-0002-3441-2455], Brolin, Kajsa [0000-0003-4832-922X], Senkevich, Konstantin [0000-0003-3407-5716], Tan, Manuela M. X. [0000-0001-5835-669X], Makarious, Mary B [.0000-0002-7978-1051], Pillay, Nikita Simone [0000-0002-9058-0920], Betancor, Oswaldo Lorenzo [0000-0002-5607-8363], Real, Raquel [0000-0001-8117-742X], Reynolds, Regina H. [0000-0001-6470-7919], Scotton, William J. [0000-0003-0607-3190], Singleton, Andrew [0000-0001-5606-700X], Dey, Sumit [0000-0002-9087-4486], Blauwendraat, Cornelis [0000-0001-9358-8111], Noyce, Alastair [0000-0003-3027-5497], Leonard, Hampton, Murtadha, Ruqaya, Martínez-Carrasco, Alejandro, Jama, Alina, Müller-Nedebock, Amica Corda, Gil-Martínez, Ana Luisa, Illarionova, Anastasia, Moore, Anni, Bustos, Bernabé I., Jadhav, Bharati, Huxford, Brook, Storm, Catherine S., Towns, Clodagh, Vitale, Dan, Chetty, Devina, Yu, Eric, Grenn, Francis P., Salazar, Gabriela, Rateau, Geoffrey, Iwaki, Hirotaka, Elsayed, Inas, Foote, Isabelle Francesca, Jansen van Rensburg, Zuné, Kim, Jonggeol Jeff, Yuan, Jie, Lake, Julie, Brolin, Kajsa, Senkevich, Konstantin, Wu, Lesley, Tan, Manuela M. X., Periñán, María Teresa, Makarious, Mary B., Ta, Michael, Pillay, Nikita Simone, Betancor, Oswaldo Lorenzo, Reyes-Pérez, Paula R., Álvarez Jerez, Pilar, Saini, Prabhjyot, Al-Ouran, Rami, Sivakumar, Ramiya, Real, Raquel, Reynolds, Regina H., Hu, Ruifneg, Abrahams, Shameemah, Rao, Shilpa C., Antar, Tarek, Leal, Thiago Peixoto, Iankova, Vassilena, Scotton, William J., Song, Yeajin, Singleton, Andrew, Nalls, Mike A., Dey, Sumit, Bandres-Ciga, Sara, Blauwendraat, Cornelis, Noyce, Alastair, International Parkinson’s Disease Genomics Consortium, and Global Parkinson’s Genetics Program

Abstract

Open science and collaboration are necessary to facilitate the advancement of Parkinson's disease (PD) research. Hackathons are collaborative events that bring together people with different skill sets and backgrounds to generate resources and creative solutions to problems. These events can be used as training and networking opportunities, thus we coordinated a virtual 3-day hackathon event, during which 49 early-career scientists from 12 countries built tools and pipelines with a focus on PD. Resources were created with the goal of helping scientists accelerate their own research by having access to the necessary code and tools. Each team was allocated one of nine different projects, each with a different goal. These included developing post-genome-wide association studies (GWAS) analysis pipelines, downstream analysis of genetic variation pipelines, and various visualization tools. Hackathons are a valuable approach to inspire creative thinking, supplement training in data science, and foster collaborative scientific relationships, which are foundational practices for early-career researchers. The resources generated can be used to accelerate research on the genetics of PD.

Published
2023

12. Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes.

Author

Guen, Yann Le, Guo Luo, Ambati, Aditya, Damotte, Vincent, Jansen, Iris, Eric Yu, Nicolas, Aude, de Rojas, Itziar, Leal, Thiago Peixoto, Miyashita, Akinori, Bellenguez, Céline, Lian, Michelle Mulan, Parveen, Kayenat, Morizono, Takashi, Hyeonseul Park, Grenier-Boley, Benjamin, Tatsuhiko Naito, Küçükali, Fahri, Talyansky, Seth D., and Yogeshwar, Selina Maria

Subjects
ALZHEIMER'S disease, PARKINSON'S disease, HLA histocompatibility antigens, IMMUNE response, POST-translational modification
Abstract

Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1*04:07, and intermediary with HLA-DRB1*04:01 and HLA-DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues. [ABSTRACT FROM AUTHOR]

Published
2023
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13. Protective association of HLA‐DRB1*04 subtypes in neurodegenerative diseases implicates acetylated tau PHF6 sequences

Author

Guen, Yann Le, primary, Luo, Guo, additional, Ambati, Aditya, additional, Damotte, Vincent, additional, Jansen, Iris E, additional, Yu, Eric, additional, Nicolas, Aude, additional, de Rojas, Itziar, additional, Leal, Thiago Peixoto, additional, Miyashita, Akinori, additional, Bellenguez, Céline, additional, Lian, Michelle Mulan, additional, Parveen, Kayenat, additional, Morizono, Takashi, additional, Park, Hyeonseul, additional, Grenier‐Boley, Benjamin, additional, Naito, Tatsuhiko, additional, Küçükali, Fahri, additional, Talyansky, Seth D., additional, Yogeshwar, Selina Marie, additional, Sempere, Vicente, additional, Satake, Wataru, additional, Álvarez‐Martínez, Victoria, additional, Arosio, Beatrice, additional, Belloy, Michael E, additional, Benussi, Luisa, additional, Boland, Anne, additional, Borroni, Barbara, additional, Bullido, María J., additional, Caffarra, Paolo, additional, Clarimon, Jordi, additional, Daniele, Antonio, additional, Darling, Daniel, additional, Debette, Stéphanie, additional, Deleuze, Jean‐François, additional, Dichgans, Martin, additional, Dufouil, Carole, additional, During, Emmanuel, additional, Duzel, Emrah, additional, Galimberti, Daniela, additional, García‐Ribas, Guillermo, additional, García‐Alberca, Jose María, additional, García‐González, Pablo, additional, Giedraitis, Vilmantas, additional, Goldhardt, Oliver, additional, Graff, Caroline, additional, Grunblatt, Edna, additional, Hanon, Olivier, additional, Hausner, Lucrezia, additional, Heilmann‐Heimbach, Stefanie, additional, Holstege, Henne, additional, Hort, Jakub, additional, Jung, Yoo Jin, additional, Jurgen, Deckert, additional, Kern, Silke, additional, Kuulasmaa, Teemu, additional, Lee, Kun Ho, additional, Ling, Ling, additional, Masullo, Carlo, additional, Mecocci, Patrizia, additional, Mehrabian, Shima, additional, de Mendonça, Alexandre, additional, Boada, Mercè, additional, Mir, Pablo, additional, Moebus, Susanne, additional, Moreno, Fermin, additional, Nacmias, Benedetta, additional, Nicolas, Gaël, additional, Niida, Shumpei, additional, Nordestgaard, Børge G., additional, Papenberg, Goran, additional, Papma, Janne M., additional, Parnetti, Lucilla, additional, Pasquier, Florence, additional, Pastor, Pau, additional, Peters, Oliver, additional, Pijnenburg, Yolande A.L., additional, Piñol‐Ripoll, Gerard, additional, Popp, Julius, additional, Molina, Laura, additional, Puerta, Raquel, additional, Pérez‐Tur, Jordi, additional, Rainero, Innocenzo, additional, Real, Luis Miguel, additional, Riedel‐Heller, Steffi G., additional, Rodríguez, Eloy Rodríguez, additional, Royo, José Luís, additional, Rujescu, Dan, additional, Scarmeas, Nikolaos, additional, Scheltens, Philip, additional, Scherbaum, Norbert, additional, Schneider, Anja, additional, Seripa, Davide, additional, Skoog, Ingmar, additional, Solfrizzi, Vincenzo, additional, Spalletta, Gianfranco, additional, Squassina, Alessio, additional, van Swieten, John C, additional, Sanchez‐Valle, Raquel, additional, Tan, Eng‐King, additional, Tegos, Thomas, additional, Teunissen, Charlotte E., additional, Thomassen, Jesper Qvist, additional, Tremolizzo, Lucio, additional, Vyhnalek, Martin, additional, Verhey, Frans R.J., additional, Waern, Margda, additional, Wiltfang, Jens, additional, Zhang, Jing, additional, Zetterberg, Henrik, additional, Blennow, Kaj, additional, Williams, Julie, additional, Amouyel, Philippe, additional, Jessen, Frank, additional, Kehoe, Patrick G, additional, Andreassen, Ole, additional, van Duijn, Cornelia M, additional, Tsolaki, Magda, additional, Sanchez‐Juan, Pascual, additional, Frikke‐Schmidt, Ruth, additional, Sleegers, Kristel, additional, Toda, Tatsushi, additional, Zettergren, Anna, additional, Ingelsson, Martin, additional, Okada, Yukinori, additional, Rossi, Giacomina, additional, Hiltunen, Mikko, additional, Gim, Jungsoo, additional, Ozaki, Kouichi, additional, Sims, Rebecca, additional, Foo, Jia Nee, additional, van der Flier, Wiesje M., additional, Ikeuchi, Takeshi, additional, Ramirez, Alfredo, additional, Mata, Ignacio, additional, Ruiz, Agustin, additional, Gan‐Or, Ziv, additional, Lambert, Jean‐Charles, additional, Greicius, Michael D, additional, and Mignot, Emmanuel, additional

Published
2022
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14. The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data

Author

Leonard, Hampton L, Murtadha, Ruqaya, Huxford, Brook, Storm, Catherine, Towns, Clodagh, Vitale, Dan, Chetty, Devina, Yu, Eric, Grenn, Francis P, Salazar, Gabriela, Rateau, Geoffrey, Iwaki, Hirotaka, Martinez-Carrasco, Alejandro, Elsayed, Inas, Foote, Isabelle Francesca, Jansen van Rensburg, Zuné, Kim, Jonggeol Jeff, Yuan, Jie, Lake, Julie, Brolin, Kajsa, Senkevich, Konstantin, Wu, Lesley, Tan, Manuela M X, Jama, Alina, Periñán, María Teresa, Makarious, Mary B, Ta, Michael, Pillay, Nikita Simone, Betancor, Oswaldo Lorenzo, Reyes-Pérez, Paula R, Alvarez Jerez, Pilar, Saini, Prabhjyot, Al-Ouran, Rami, Sivakumar, Ramiya, Müller-Nedebock, Amica Corda, Real, Raquel, Reynolds, Regina H, Hu, Ruifneg, Abrahams, Shameemah, Rao, Shilpa C, Antar, Tarek, Leal, Thiago Peixoto, Iankova, Vassilena, Scotton, William J, Song, Yeajin, Gil-Martinez, Ana-Luisa, Singleton, Andrew, Nalls, Mike A, Dey, Sumit, Bandres-Ciga, Sara, Blauwendraat, Cornelis, Noyce, Alastair J, Program, The Global Parkinson’s Genetics, Illarionova, Anastasia, Moore, Anni, Bustos, Bernabe I, Jadhav, Bharati, and Consortium, International Parkinson Disease Genomics

Subjects
Cellular and Molecular Neuroscience, Neurology, Neurology (clinical), ddc:610
Abstract

Open science and collaboration are necessary to facilitate the advancement of Parkinson’s disease (PD) research. Hackathons are collaborative events that bring together people with different skill sets and backgrounds to generate resources and creative solutions to problems. These events can be used as training and networking opportunities, thus we coordinated a virtual 3-day hackathon event, during which 49 early-career scientists from 12 countries built tools and pipelines with a focus on PD. Resources were created with the goal of helping scientists accelerate their own research by having access to the necessary code and tools. Each team was allocated one of nine different projects, each with a different goal. These included developing post-genome-wide association studies (GWAS) analysis pipelines, downstream analysis of genetic variation pipelines, and various visualization tools. Hackathons are a valuable approach to inspire creative thinking, supplement training in data science, and foster collaborative scientific relationships, which are foundational practices for early-career researchers. The resources generated can be used to accelerate research on the genetics of PD.

Published
2023

15. Author Correction: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data

Author

Leonard, Hampton L, Murtadha, Ruqaya, Huxford, Brook, Storm, Catherine, Towns, Clodagh, Vitale, Dan, Chetty, Devina, Yu, Eric, Grenn, Francis P, Salazar, Gabriela, Rateau, Geoffrey, Iwaki, Hirotaka, Martinez-Carrasco, Alejandro, Elsayed, Inas, Foote, Isabelle Francesca, Jansen van Rensburg, Zuné, Kim, Jonggeol Jeff, Yuan, Jie, Lake, Julie, Brolin, Kajsa, Senkevich, Konstantin, Wu, Lesley, Tan, Manuela M X, Jama, Alina, Periñán, María Teresa, Makarious, Mary B, Ta, Michael, Pillay, Nikita Simone, Betancor, Oswaldo Lorenzo, Reyes-Pérez, Paula R, Alvarez Jerez, Pilar, Saini, Prabhjyot, Al-Ouran, Rami, Sivakumar, Ramiya, Müller-Nedebock, Amica Corda, Real, Raquel, Reynolds, Regina H, Hu, Ruifneg, Abrahams, Shameemah, Rao, Shilpa C, Antar, Tarek, Leal, Thiago Peixoto, Iankova, Vassilena, Scotton, William J, Song, Yeajin, Gil-Martinez, Ana-Luisa, Singleton, Andrew, Nalls, Mike A, Dey, Sumit, Bandres-Ciga, Sara, Blauwendraat, Cornelis, Noyce, Alastair J, Program, The Global Parkinson’s Genetics, Illarionova, Anastasia, Moore, Anni, Bustos, Bernabe I, Jadhav, Bharati, and Consortium, International Parkinson Disease Genomics

Subjects
ddc:610
Published
2023

17. The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data

Author

Leonard, Hampton L., primary, Murtadha, Ruqaya, additional, Martinez-Carrasco, Alejandro, additional, Muller-Nedebock, Amica, additional, Gil-Martinez, Ana-Luisa, additional, Illarionova, Anastasia, additional, Moore, Anni, additional, Bustos, Bernabe I., additional, Jadhav, Bharati, additional, Huxford, Brook, additional, Storm, Catherine, additional, Towns, Clodagh, additional, Vitale, Dan, additional, Chetty, Devina, additional, Yu, Eric, additional, Jama, Fatumah, additional, Grenn, Francis P., additional, Salazar, Gabriela, additional, Rateau, Geoffrey, additional, Iwaki, Hirotaka, additional, Elsayed, Inas, additional, Foote, Isabelle, additional, van Rensburg, Zuné Jansen, additional, Kim, Jonggeol Jeff, additional, Yuan, Jie, additional, Lake, Julie, additional, Brolin, Kajsa, additional, Senkevich, Konstantin, additional, Wu, Lesley, additional, Tan, Manuela M.X., additional, Periñán, María Teresa, additional, Makarious, Mary B, additional, Ta, Michael, additional, Pillay, Nikita Simone, additional, Betancor, Oswaldo Lorenzo, additional, Reyes-Pérez, Paula R., additional, Jerez, Pilar Alvarez, additional, Saini, Prabhjyot, additional, al-Ouran, Rami, additional, Sivakumar, Ramiya, additional, Real, Raquel, additional, Reynolds, Regina H., additional, Hu, Ruifneg, additional, Abrahams, Shameemah, additional, Rao, Shilpa C., additional, Antar, Tarek, additional, Leal, Thiago Peixoto, additional, Iankova, Vassilena, additional, Scotton, William J., additional, Song, Yeajin, additional, Singleton, Andrew, additional, Nalls, Mike A., additional, Dey, Sumit, additional, Bandres-Ciga, Sara, additional, Blauwendraat, Cornelis, additional, and Noyce, Alastair J., additional

Published
2022
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18. Population genetics of PDE4B (phosphodiesterase‐4B) in neglected Native Americans: Implications for cancer pharmacogenetics

Author

Moreira, Rennan Garcias, primary, Saraiva‐Duarte, Julia Maria, additional, Pereira, Alexandre Costa, additional, Sosa‐Macias, Martha, additional, Galaviz‐Hernandez, Carlos, additional, Santolalla, Meddly Lesley, additional, Magalhães, Wagner C. S., additional, Zolini, Camila, additional, Leal, Thiago Peixoto, additional, Balázs, Zsolt, additional, Llerena, Adrián, additional, Gilman, Robert H., additional, Mill, José Geraldo, additional, Borda, Victor, additional, Guio, Heinner, additional, O’Connor, Timothy D., additional, Tarazona‐Santos, Eduardo, additional, and Rodrigues‐Soares, Fernanda, additional

Published
2022
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19. NAToRA, a relatedness-pruning method to minimize the loss of dataset size in genetic and omics analyses

Author

Leal, Thiago Peixoto, primary, Furlan, Vinicius C, additional, Gouveia, Mateus Henrique, additional, Saraiva Duarte, Julia Maria, additional, Fonseca, Pablo AS, additional, Tou, Rafael, additional, de Oliveira Scliar, Marilia, additional, de Araujo, Gilderlanio Santana, additional, Zolini, Camila, additional, Diniz Peixoto, Maria Gabriela Campolina, additional, Santos Carvalho, Maria Raquel, additional, Lima-Costa, Maria Fernanda, additional, Gilman, Robert H, additional, Tarazona-Santos, Eduardo, additional, and Rodrigues, Maíra Ribeiro, additional

Published
2021
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20. THE ASSOCIATION BETWEEN SELF-RATED HEALTH, PHYSICAL ACTIVITY LEVEL AND BODY MASS INDEX IN THE INNER CITY OF MINAS GERAIS

Author

Fuzatto, Mábllim, Oliveira, Alessandro de, de Oliveira, Kássya Regina, Leal, Thiago Peixoto, Rivaroli, Luciano, and FAPEMIG

Subjects
Salud, Educación Fisica, Qualidade de Vida, Qualidade no Cuidado da Saúde, Composição Corporal, Exercício, Brasil, Quality of Life, Quality of Health Care, Body Composition, Exercise, Brazil, Brasil, Exercício, Calidad en el Cuidado de la Salud, Ejercicio, Calidad de Vida, Composición Corporal, Saúde, Educação Física, Health, Physical Education
Abstract

The aim of this study was to verify the association between self-rated health status, physical activity level (PAL) and body mass index (BMI) in the inner city of Minas Gerais. For this purpose, 339 individuals, who practice physical exercise at least once a week were recruited and evaluated according PAL, BMI and self-rated health. The results demonstrated non-association between PAL and overweight, in addition to the higher incidence of positive self-rated health status in active and more active individuals. However, using quantitative parameters in self-rated health status more active group presented better results. (p, El estudio buscó verificar la asociación entre la autoevaluación de la salud, el nivel de actividad física (NAF) y el índice de masa corporal (IMC) en individuos activos en un municipio del interior de Minas Gerais. Para ello, 339 individuos practicantes de ejercicios físicos al menos una vez por semana, fueron evaluados en cuanto al NAF, IMC y autoevaluación de salud. Los resultados demostraron la no asociación entre el NAF y el sobrepeso, además de la mayor incidencia de autoevaluación positiva de la salud en activos y muy activos. Sin embargo, utilizando parámetros cuantitativos a las respuestas, el grupo más activo presentó mejores resultados (p, O estudo buscou verificar associação entre a autoavaliação da saúde, o nível de atividade física (NAF) e o índice de massa corpórea (IMC) em indivíduos ativos em um município do interior de Minas Gerais. Para tal, 339 indivíduos praticantes de exercícios físicos pelo menos uma vez por semana, foram avaliados quanto ao NAF, IMC e autoavaliação de saúde. Os resultados demonstraram a não associação entre o NAF e sobrepeso, além da maior incidência de autoavaliação positiva da saúde em ativos e muito ativos. No entanto, utilizando parâmetros quantitativos às respostas, o grupo mais ativo apresentou melhores resultados (p

Published
2018

21. Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder.

Author

Mendes M, Chen DZ, Engchuan W, Leal TP, Thiruvahindrapuram B, Trost B, Howe JL, Pellecchia G, Nalpathamkalam T, Alexandrova R, Salazar NB, McKee EA, Alfaro NR, Lai MC, Bandres-Ciga S, Roshandel D, Bradley CA, Anagnostou E, Sun L, and Scherer SW

Abstract

Autism Spectrum Disorder (ASD) displays a notable male bias in prevalence. Research into rare (<0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD pathogenesis, such as MECP2 , DDX3X , and DMD . The "female protective effect" in ASD suggests that females may require a higher genetic burden to manifest similar symptoms as males, yet the mechanisms remain unclear. Despite technological advances in genomics, the complexity of the biological nature of sex chromosomes leave them underrepresented in genome-wide studies. Here, we conducted an X chromosome-wide association study (XWAS) using whole-genome sequencing data from 6,873 individuals with ASD (82% males) across Autism Speaks MSSNG, Simons Simplex Cohort SSC, and Simons Foundation Powering Autism Research SPARK, alongside 8,981 population controls (43% males). We analyzed 418,652 X-chromosome variants, identifying 59 associated with ASD (p-values 7.9×10 -6 to 1.51×10 -5 ), surpassing Bonferroni-corrected thresholds. Key findings include significant regions on chrXp22.2 (lead SNP=rs12687599, p=3.57×10 -7 ) harboring ASB9 / ASB11 , and another encompassing DDX53/PTCHD1-AS long non-coding RNA (lead SNP=rs5926125, p=9.47×10 -6 ). When mapping genes within 10kb of the 59 most significantly associated SNPs, 91 genes were found, 17 of which yielded association with ASD ( GRPR , AP1S2 , DDX53 , HDAC8 , PCDH19 , PTCHD1 , PCDH11X , PTCHD1-AS , DMD , SYAP1 , CNKSR2 , GLRA2 , OFD1 , CDKL5 , GPRASP2 , NXF5 , SH3KBP1 ). FGF13 emerged as a novel X-linked ASD candidate gene, highlighted by sex-specific differences in minor allele frequencies. These results reveal significant new insights into X chromosome biology in ASD, confirming and nominating genes and pathways for further investigation., Competing Interests: At the time of this study and its publication, S.W.S. served on the Scientific Advisory Committee of Population Bio. Intellectual property from aspects of his research held at The Hospital for Sick Children are licensed to Athena Diagnostics and Population Bio. These relationships did not influence data interpretation or presentation during this study but are disclosed for potential future considerations.

Published
2024
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22. Comparing the effect of imputation reference panel composition in four distinct Latin American cohorts.

Author

French JN, Pua VB, Laboulaye R, Leal TP, Olivas MC, Lima-Costa MF, Horta BL, Barreto ML, Tarazona-Santos E, Mata I, and O'Connor TD

Abstract

Genome-wide association studies have been useful in identifying genetic risk factors for various phenotypes. These studies rely on imputation and many existing panels are largely composed of individuals of European ancestry, resulting in lower levels of imputation quality in underrepresented populations. We aim to analyze how the composition of imputation reference panels affects imputation quality in four target Latin American cohorts. We compared imputation quality for chromosomes 7 and X when altering the imputation reference panel by: 1) increasing the number of Latin American individuals; 2) excluding either Latin American, African, or European individuals, or 3) increasing the Indigenous American (IA) admixture proportions of included Latin Americans. We found that increasing the number of Latin Americans in the reference panel improved imputation quality in the four populations; however, there were differences between chromosomes 7 and X in some cohorts. Excluding Latin Americans from analysis resulted in worse imputation quality in every cohort, while differential effects were seen when excluding Europeans and Africans between and within cohorts and between chromosomes 7 and X. Finally, increasing IA-like admixture proportions in the reference panel increased imputation quality at different levels in different populations. The difference in results between populations and chromosomes suggests that existing and future reference panels containing Latin American individuals are likely to perform differently in different Latin American populations.

Published
2024
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