Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism

Björn-Hergen Laabs, Christine Klein (), Jelena Pozojevic, Aloysius Domingo, Norbert Brüggemann, Karen Grütz, Raymond L. Rosales, Roland Dominic Jamora, Gerard Saranza, Cid Czarina E. Diesta, Michael Wittig, Susen Schaake, Marija Dulovic-Mahlow, Jana Quismundo, Pia Otto, Patrick Acuna, Criscely Go, Nutan Sharma, Trisha Multhaupt-Buell, Ulrich Müller, Henrike Hanssen, Fabian Kilpert, Andre Franke, Arndt Rolfs, Peter Bauer, Valerija Dobričić, Katja Lohmann, Laurie J. Ozelius, Frank J. Kaiser, Inke R. König () and Ana Westenberger ()
Additional contact information
Björn-Hergen Laabs: University Hospital Schleswig-Holstein
Christine Klein: University of Lübeck
Jelena Pozojevic: University of Lübeck
Aloysius Domingo: University of Lübeck
Norbert Brüggemann: University of Lübeck
Karen Grütz: University of Lübeck
Raymond L. Rosales: University of Santo Tomas Hospital
Roland Dominic Jamora: University of the Philippines
Gerard Saranza: University of the Philippines
Cid Czarina E. Diesta: Makati Medical Center
Michael Wittig: Christian-Albrechts-University of Kiel
Susen Schaake: University of Lübeck
Marija Dulovic-Mahlow: University of Lübeck
Jana Quismundo: University of Lübeck
Pia Otto: University of Lübeck
Patrick Acuna: Massachusetts General Hospital
Criscely Go: Jose Reyes Memorial Medical Center
Nutan Sharma: Massachusetts General Hospital
Trisha Multhaupt-Buell: Massachusetts General Hospital
Ulrich Müller: Justus-Liebig-Universität
Henrike Hanssen: University of Lübeck
Fabian Kilpert: University Hospital Essen and University of Duisburg-Essen
Andre Franke: Christian-Albrechts-University of Kiel
Arndt Rolfs: CENTOGENE GmbH
Peter Bauer: CENTOGENE GmbH
Valerija Dobričić: University of Lübeck
Katja Lohmann: University of Lübeck
Laurie J. Ozelius: Massachusetts General Hospital
Frank J. Kaiser: University of Lübeck
Inke R. König: University Hospital Schleswig-Holstein
Ana Westenberger: University of Lübeck

Nature Communications, 2021, vol. 12, issue 1, 1-8

Abstract: Abstract X-linked dystonia-parkinsonism is a neurodegenerative disorder caused by a founder retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for ~50% of age at onset variability. Employing a genome-wide association study to identify additional factors modifying age at onset, we establish that three independent loci are significantly associated with age at onset (p

Date: 2021
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Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-021-23491-4

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DOI: 10.1038/s41467-021-23491-4

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