Accès ouvert déclaré 2025 article

TMEM175, SCARB2 and CTSB associations with Parkinson’s disease risk across populations

Wen-Hua Sun, Claudia Schulte, Thomas Gasser, Manuela Tan, Lasse Pihlstrøm, Pedro Chaná, Yeajin Song, Sara Bandrés‐Ciga, Cornelis Blauwendraat, Andrew Singleton, Mike A. Nalls, Hampton L. Leonard, Mie Rizig, Hirotaka Iwaki, Carlos Roberto de Mello Rieder, Ignácio F. Mata, Njideka Okubadejo, Emilia Gatto, Marcelo Kauffman, Claire E. Shepherd, Samson Khachatryan, Zaruhi Tavadyan, Julie Hunter, Kishore R. Kumar, Melina Ellis, Miguel E. Rentería, Sulev Kõks, Alexander Zimprich, Vítor Tumas, Sarah Camargos, Edward A. Fon, Ted Fon, Oury Monchi, Benjamin Pizarro Galleguillos, Patricio Olguı́n, Marcelo Miranda, M. Leonor Bustamante, Beisha Tang, Huifang Shang, Jifeng Guo, Piu Chan, Wei Luo, Gonzálo Arboleda, Jorge Orozco, Marlene Jiménez-Del-Río, Alvaro G. Hernandez, Mohamed Salama, Walaa A. Kamel, Yared Z. Zewde, Alexis Brice, Jean‐Christophe Corvol, Ana Westenberger, Christine Klein, Eva-Juliane Vollstedt, Harutyun Madoev, Joanne Trinh, Johanna Junker, Katja Lohmann, Anastasia Illarionova, Franziska Hopfner, Günter U. Höglinger, Lara M. Lange, Manu Sharma, Sergiu Groppa, Zih‐Hua Fang, Albert Akpalu, Georgia Xiromerisiou, Georgios M. Hadjigeorgiou, Efthimios Dardiotis, Ioannis Dagklis, Ioannis Tarnanas, Leonidas Stefanis, María Stamelou, Alex Medina, Germaine Hiu-Fai Chan, Nelson Yuk-Fai Cheung, Nancy Y. Ip, Phillip Chan, Xiaopu Zhou, Asha Kishore, K. P. Divya, Pramod Kumar Pal, Prashanth Lingappa Kukkle, Roopa Rajan, Rupam Borgohain, Andrea Quattrone, Enza Maria Valente, Micol Avenali, Lucilla Parnetti, Tommaso Schirinzi, Manabu Funayama, Nobutaka Hattori, Tomotaka Shiraishi, Altynay Karimova, Gulnaz Kaishibayeva, Cholpon Shambetova, Rejko Krüger, Ai Huey Tan, Azlina Ahmad‐Annuar, Shen‐Yang Lim, Yi Wen Tay, Shahrul Azmin, Nor Azian Abdul Murad, Daniel Martínez-Ramírez, Mayela Rodríguez‐Violante, Paula Reyes‐Pérez, Bayasgalan Tserensodnom, Rajeev Ojha, Tim Anderson, Toni L. Pitcher, Oluwadamilola O. Ojo, Jan Aasly, Shoaib Ur-Rehman, Mario Cornejo‐Olivas, Maria Leila M. Doquenia, Raymond L. Rosales, Ángel Viñuela, Е. А. Яковенко, Bashayer Al Mubarak, Muhammad Umair, Eng‐King Tan, Ferzana Amod, Jonathan Carr, Soraya Bardien, Beomseok Jeon, Yun Joong Kim, Esther Cubo, Ignacio Álvarez, Janet Hoenicka, Katrin Beyer, Sarah El-Sadig, Christiane Zweier, Paul Krack, Chin‐Hsien Lin, Ruey‐Meei Wu, Hsiu-Chuan Wu, Yih‐Ru Wu, Pin‐Jui Kung, Serena Wu, Rim Amouri, Samia Ben Sassi, A. Nazl Başak, Özgür Öztop Çakmak, Sibel Ertan, Gençer Genç, Alejandro Martínez-Carrasco, Anette Schrag, Anthony H.V. Schapira, Eleanor J. Stafford, Henry Houlden, Huw R. Morris, John Hardy, Nicholas Wood, Olaitan Okunoye, Rauan Kaiyrzhanov, Rimona S. Weil, Simona Jasaitye, Vida Obese, Camille Carroll, Claire Bale, Donald G. Grosset, Kin Y. Mok, Nigel Williams, Patrick A. Lewis, Seth Love, Simon Stott, Alberto J. Espay, Luca Marsili, Alyssa O’Grady, Bernadette Siddiqi, Bradford Casey, Brian P. Fiske, Charisse Comart, J Solle, Kaileigh Murphy, Maggie Kuhl, Naomi Louie, Sohini Chowdhury, Todd Sherer, Andrew K. Sobering, Cabell Jonas, Carlos Cruchaga, Caroline B. Pantazis, Claire Wegel, Deborah J. Hall, Ejaz A. Shamim, Jared Williamson, Ekemini Riley, Sonya B. Dumanis, Geidy E. Serrano, Thomas G. Beach, Honglei Chen, Ignacio Juan Keller Sarmiento, Niccolò E. Mencacci, Steven Lubbe, Joseph Jankovic, Miguel Inca‐Martinez, Joshua Shulman, Karen Nuytemans, Karl Kieburtz, Katerina Markopoulou, Kenneth Marek, Lana M. Chahine, Lauren Ruffrage, Marissa Dean, Lisa Shulman, Roger L. Albin, Roy N. Alcalay, Ruth Walker, Tao Xie, Tatiana Foroud, Duan Nguyen, Toan Nguyen, Masharip Atadzhanov

4Citations signalées — pas une note de qualité

152Institutions déclarées

48Pays d’affiliation déclarés

Résumé fourni par la source

Genome-wide association study of Parkinson's disease (PD) identified common variants associated with lysosomal mechanism, including TMEM175, SCARB2, and CTSB. We investigated the association between common and rare variants across populations using cohorts from the Global Parkinson's Genetics Program (GP2) (33,733 cases and 18,703 controls from ten ancestries). In the European cohort, we confirmed significant associations with PD risk for all known genetic risk variants across the three genes and TMEM175 p. Met393Thr as an independent genome-wide significant signal. Additionally, a novel independent signal, SCARB2 rs11547135, was detected. The burden analysis linked PD to SCARB2 in African American, Ashkenazi Jewish and East Asian cohorts. Single variants-based tests identified rare missense variants in SCARB2 in several populations. Our study reinforces the association of lysosomal genetic variants with PD risk, revealing genetic heterogeneity across populations.

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DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref: TMEM175, SCARB2 and CTSB associations with Parkinson’s disease risk across populations
Date Crossref: 02/12/2025
Éditeur: Springer Science and Business Media LLC
Type: journal-article

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Institutions déclarées

German Center for Neurodegenerative Diseases Hertie Institute for Clinical Brain Research Oslo University Hospital Centro de Estudios Científicos Institute on Aging National Institutes of Health National Institute on Aging Data Tecnica International (United States)Queen Mary University of London National Hospital for Neurology and Neurosurgery University College London University of Lagos Universidade Federal do Rio Grande do Sul Hospital de Clínicas de Porto Alegre Cleveland Clinic Hospital de Niños de la Santísima Trinidad Hospital Ramos Mejía Neuroscience Research Australia Anzac Research Institute Garvan Institute of Medical Research Concord Repatriation General Hospital QIMR Berghofer Medical Research Institute Murdoch University Medical University of Vienna Universidade de São Paulo Universidade Federal de Minas Gerais McGill University University of Chile Fundación Chile Central South University Sichuan University West China Hospital of Sichuan University Xiangya Hospital Central South University Capital Medical University Hong Kong University of Science and Technology Zhejiang University Universidad Nacional de Colombia Fundación Valle del Lili Universidad de Antioquia Universidad de Costa Rica American University in Cairo Beni-Suef University Addis Ababa University Institut du Cerveau Sorbonne Université University of Lübeck Universitätsmedizin Göttingen LMU Klinikum Ludwig-Maximilians-Universität München Medizinische Hochschule Hannover University of Tübingen University of Ghana University of Thessaly Aristotle University of Thessaloniki Ionian University Biomedical Research Foundation of the Academy of Athens Hygeia Hospital Universidad Metropolitana de Honduras Queen Elizabeth Hospital Aster Medcity Sree Chitra Thirunal Institute for Medical Sciences and Technology National Institute of Mental Health and Neurosciences Manipal Hospital All India Institute of Medical Sciences Nizam's Institute of Medical Sciences Shahid Beheshti University of Medical Sciences Magna Graecia University University of Pavia University of Perugia University of Rome Tor Vergata Juntendo University Hospital Juntendo University Jikei University School of Medicine Kyrgyz State Medical Academy University of Luxembourg University of Malaya National University of Malaysia University Kebangsaan Malaysia Medical Centre Tecnológico de Monterrey Instituto Nacional de Neurología y Neurocirugía Universidad Nacional Autónoma de México Mongolian National University of Medical Sciences Tribhuvan University University of Otago Norwegian University of Science and Technology University of Science and Technology Bannu Instituto Nacional de Ciencias Neurológicas University of Puerto Rico System Research Center of Neurology King Faisal Specialist Hospital & Research Centre King Abdullah International Medical Research Center National Neuroscience Institute University of KwaZulu-Natal Stellenbosch University Seoul National University Hospital Severance Hospital Hospital Universitario de Burgos University Hospital Mútua de Terrassa Mútua Terrassa Institut de Recerca Sant Joan de Déu Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol Hospital Universitari Germans Trias i Pujol University of Khartoum University of Bern University Hospital of Bern National Taiwan University Hospital Taoyuan Chang Gung Memorial Hospital National Taiwan University National Taipei University Chang Gung University National Institute of Neurology Mongi-Ben Hamida Koç University Şişli Etfal Eğitim ve Araştırma Hastanesi University of Plymouth Parkinson's UK University of Glasgow Cardiff University University of London Royal Veterinary College University of Bristol Cure Parkinson's Trust University of Cincinnati Michael J. Fox Foundation University of Georgia Augusta University Health Colorado Permanente Medical Group Washington University in St. Louis Indiana University Bloomington Rush University Medical Center Kaiser Permanente Alion Science and Technology (United States)Banner Sun Health Research Institute Michigan State University Northwestern University Baylor College of Medicine Texas Children's Hospital University of Miami Beth Israel Deaconess Medical Center Endeavor Health Institute for Neurodegenerative Disorders University of Pittsburgh University of Alabama at Birmingham University of Maryland, Baltimore University of Michigan Columbia University Irving Medical Center James J. Peters VA Medical Center University of Illinois Chicago University of Chicago Indiana University School of Medicine Indiana University – Purdue University Indianapolis Hue University University of Zambia

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Sujets associés

Parkinson's Disease Mechanisms and TreatmentsLysosomal Storage Disorders ResearchNeurological diseases and metabolism

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