% IMPORTANT: The following is UTF-8 encoded. This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.
@ARTICLE{Lim:285811,
author = {Lim, Kai Shi and Periñan, Maria Teresa and Chew, Elaine
Guo Yan and Lee, Paul Suhwan and Akçimen, Fulya and Lim,
Jia Lun and Koretsky, Mathew J. and Funayama, Manabu and
Yoshino, Hiroyo and Hattori, Nobutaka and Kaiyrzhanov, Rauan
and Houlden, Henry and Isayan, Mariam and Tay, Yi Wen and
Toh, Tzi Shin and Lit, Lei-Cheng and Khairul Anuar, Anis
Nadhirah and Ding, Hans Xing and Screven, Laurel and
Ibrahim, Norlinah Mohamed and Lin, Chin-Hsien and Kim,
Han-Joon and Lee, Jee-Young and Chung, Sun Ju and Foo, Jia
Nee and Tan, Eng-King and Lim, Shen-Yang and Tan, Ai Huey
and Bandres-Ciga, Sara and Ahmad-Annuar, Azlina and Yan
Chew, Elaine Guo and Khairul Anuar, Anis Nadhirah and Rizig,
Mie and Okubadejo, Njideka and Gatto, Emilia M. and
Kauffman, Marcelo and Khachatryan, Samson and Tavadyan,
Zaruhi and Shepherd, Claire E. and Hunter, Julie and Kumar,
Kishore and Ellis, Melina and Rentería, Miguel E. and Koks,
Sulev and Zimprich, Alexander and Rieder, Carlos 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 Gasser, Thomas and Fang,
Zih-Hua and Groppa, Sergio 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 Shiraishi, Tomotaka and Karimova, Altynay and
Kaishibayeva, Gulnaz and Shambetova, Cholpon and Krüger,
Rejko and Abdul Murad, Nor Azian and Azmin, Shahrul and
Mohamed, Wael and Martinez-Ramirez, Daniel and
Rodriguez-Violante, Mayela and Reayes-Perez, Paula and
Tserensodnom, Bayasgalan and Ojha, Rajeev and Anderson, Tim
J. and Pitcher, Toni L. and Ojo, Oluwadamilola and Aasly,
Jan O. and Pihlstrøm, Lasse and Tan, Manuela 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 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 Wu, Ruey-Meei and Wu, Hsiu-Chuan and Wu, Yih-Ru and
Kung, Pin-Jui and Wu, Serena and Amouri, Rim and Sassi,
Samia Ben 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 Morris, Huw and Hardy, John and
Wood, Nicholas and Okunoye, Olaitan 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 Keller Sarmiento, Ignacio Juan 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 = {{A}ssociation of {LRRK}2 p.{A}419{V} with {P}arkinson’s
{D}isease in {E}ast {A}sians and analysis of age at onset},
journal = {npj Parkinson's Disease},
volume = {12},
number = {1},
issn = {2373-8057},
address = {[London]},
publisher = {Springer Nature},
reportid = {DZNE-2026-00347},
pages = {51},
year = {2026},
abstract = {Common and rare variants in LRRK2 influence Parkinson’s
disease (PD) risk across diverse populations, and in this
study, the rare p.A419V variant was investigated across
multiple ancestry cohorts comprising over 200,000 PD cases
and controls. In cases of East Asian (EAS) ancestry, p.A419V
was significantly associated with increased risk of PD
(OR = 2.9; $95\%$ CI: 1.66–5.10; p = 0.0002), and
was not in linkage disequilibrium with other LRRK2 coding
variants. The variant was significantly associated with a
lower age at PD onset in the study cohort, while a
meta-analysis of the EAS cases indicated a similar, albeit
non-significant trend. LRRK2 protein modelling prediction
indicated that binding sites for RAB8A, RAB29 and RAB32 were
in close proximity to the p.A419V variant within the ARM
domain. Together, these findings confirm the p.A419V as a
significant PD risk factor in EAS populations, as well as
highlight disease-relevant variants in the ARM domain and
the link with LRRK2-RAB signaling.},
cin = {AG Gasser / ICRU},
ddc = {610},
cid = {I:(DE-2719)1210000 / I:(DE-2719)1240005},
pnm = {353 - Clinical and Health Care Research (POF4-353) / 899 -
ohne Topic (POF4-899)},
pid = {G:(DE-HGF)POF4-353 / G:(DE-HGF)POF4-899},
typ = {PUB:(DE-HGF)16},
doi = {10.1038/s41531-026-01265-3},
url = {https://pub.dzne.de/record/285811},
}
guest ::