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@ARTICLE{Sun:282915,
author = {Sun, Wenhua and Schulte, Claudia and Gasser, Thomas and
Tan, Manuela},
collaboration = {Program, Global Parkinson’s Genetic},
othercontributors = {Pihlstrøm, Lasse and Chana, Pedro and Song, Yeajin and
Bandres-Ciga, Sara and Blauwendraat, Cornelis and Singleton,
Andrew and Nalls, Mike A and Leonard, Hampton and Rizig, Mie
and Iwaki, Hirotaka and Rieder, Carlos and Mata, Ignacio F
and Okubadejo, Njideka and Gatto, Emilia M and Kauffman,
Marcelo and Shepherd, Claire E and Khachatryan, Samson and
Tavadyan, Zaruhi and Hunter, Julie and Kumar, Kishore and
Ellis, Melina and Rentería, Miguel E and Koks, Sulev and
Zimprich, Alexander and Tumas, Vitor and Camargos, Sarah and
Fon, Edward A and Fon, Ted and Monchi, Oury and
Galleguillos, Benjamin Pizarro and Olguin, Patricio and
Miranda, Marcelo and Bustamante, Maria Leonor and Tang,
Beisha and Shang, Huifang and Guo, Jifeng and Chan, Piu and
Luo, Wei and Arboleda, Gonzalo and Orozco, Jorge and Del
Rio, Marlene Jimenez and Hernandez, Alvaro and Salama,
Mohamed and Kamel, Walaa A and Zewde, Yared Z and Brice,
Alexis and Corvol, Jean-Christophe and Westenberger, Ana and
Klein, Christine and Vollstedt, Eva-Juliane and Madoev,
Harutyun and Trinh, Joanne and Junker, Johanna and Lohmann,
Katja and Illarionova, Anastasia and Mollenhauer, Brit and
Hopfner, Franziska and Höglinger, Günter and Lange, Lara M
and Sharma, Manu and Groppa, Sergio and Fang, Zih-Hua and
Akpalu, Albert and Xiromerisiou, Georgia and Hadjigeorgiou,
Georgios and Dardiotis, Efthymios and Dagklis, Ioannis and
Tarnanas, Ioannis and Stefanis, Leonidas and Stamelou, Maria
and Medina, Alex and Chan, Germaine Hiu-Fai and Cheung,
Nelson Yuk-Fai and Ip, Nancy and Chan, Phillip and Zhou,
Xiaopu and Kishore, Asha and Divya, K. P. and Pal, Pramod
and Kukkle, Prashanth Lingappa and Rajan, Roopa and
Borgohain, Rupam and Salari, Mehri and Quattrone, Andrea and
Valente, Enza Maria and Avenali, Micol and Parnetti, Lucilla
and Schirinzi, Tommaso and Funayama, Manabu and Hattori,
Nobutaka and Shiraishi, Tomotaka and Karimova, Altynay and
Kaishibayeva, Gulnaz and Shambetova, Cholpon and Krüger,
Rejko and Tan, Ai Huey and Ahmad-Annuar, Azlina and Lim,
Shen-Yang and Tay, Yi Wen and Norlinah, Mohamed Ibrahim and
Azmin, Shahrul and Murad, Nor Azian Abdul and
Martinez-Ramirez, Daniel and Rodriguez-Violante, Mayela and
Reyes-Pérez, Paula and Tserensodnom, Bayasgalan and Ojha,
Rajeev and Anderson, Tim J and Pitcher, Toni L and Ojo,
Oluwadamilola and Aasly, Jan O and Ur-Rehman, Shoaib and
Cornejo-Olivas, Mario and Doquenia, Maria Leila and Rosales,
Raymond and Vinuela, Angel and Iakovenko, Elena and Mubarak,
Bashayer Al and Umair, Muhammad and Tan, Eng-King and Amod,
Ferzana and Carr, Jonathan and Bardien, Soraya and Jeon,
Beomseok and Kim, Yun Joong and Cubo, Esther and Alvarez,
Ignacio and Hoenicka, Janet and Beyer, Katrin and Pastor,
Pau and El-Sadig, Sarah and Zweier, Christiane and Krack,
Paul and Lin, Chin-Hsien and Wu, Ruey-Meei and Wu,
Hsiu-Chuan and Wu, Yih-Ru and Kung, Pin-Jui and Wu, Serena
and Amouri, Rim and Ben Sassi, Samia and Başak, A Nazl and
Çakmak, Özgür Öztop and Ertan, Sibel and Genc, Gencer
and Martínez-Carrasco, Alejandro and Schrag, Anette and
Schapira, Anthony and Stafford, Eleanor J and Houlden, Henry
and Morris, Huw R and Hardy, John and Wood, Nicholas and
Okunoye, Olaitan and Kaiyrzhanov, Rauan and Weil, Rimona and
Jasaitye, Simona and Obese, Vida and Carroll, Camille and
Bale, Claire and Grosset, Donald and Mok, Kin Y and
Williams, Nigel and Lewis, Patrick A and Love, Seth and
Stott, Simon and Espay, Alberto and Marsili, Luca and
O'Grady, Alyssa and Siddiqi, Bernadette and Casey, Bradford
and Fiske, Brian and Comart, Charisse and Solle, Justin C
and Murphy, Kaileigh and Kuhl, Maggie and Louie, Naomi and
Chowdhury, Sohini and Sherer, Todd and Sobering, Andrew K
and Jonas, Cabell and Cruchaga, Carlos and Pantazis,
Caroline B and Wegel, Claire and Hall, Deborah and Shamim,
Ejaz and Williamson, Jared and Riley, Ekemini and Dumanis,
Sonya and Serrano, Geidy E and Beach, Thomas and Chen,
Honglei and Sarmiento, Ignacio Juan Keller and Mencacci,
Niccolò E and Lubbe, Steven and Jankovic, Joseph and
Inca-Martinez, Miguel and Shulman, Joshua and Nuytemans,
Karen and Kieburtz, Karl and Markopoulou, Katerina and
Marek, Kenneth and Chahine, Lana M and Ruffrage, Lauren and
Dean, Marissa and Shulman, Lisa and Albin, Roger and
Alcalay, Roy and Walker, Ruth and Xie, Tao and Foroud,
Tatiana and Nguyen, Duan and Nguyen, Toan and Atadzhanov,
Masharip},
title = {{TMEM}175, {SCARB}2 and {CTSB} associations with
{P}arkinson's disease risk across populations.},
journal = {npj Parkinson's Disease},
volume = {11},
number = {1},
issn = {2373-8057},
address = {[London]},
publisher = {Springer Nature},
reportid = {DZNE-2025-01376},
pages = {348},
year = {2025},
abstract = {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.},
cin = {AG Gasser},
ddc = {610},
cid = {I:(DE-2719)1210000},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41331295},
pmc = {pmc:PMC12678402},
doi = {10.1038/s41531-025-01180-z},
url = {https://pub.dzne.de/record/282915},
}