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

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

Age at onset of X-linked dystonia-parkinsonism is 50% explained by the length of a repeat in an SVA insert. The authors perform a GWAS for genetic modifiers and discover three more loci, accounting for another 13% of variability in age at onset with the protective alleles delaying onset by seven yea...

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Main Authors: 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, Ana Westenberger
Format: Article
Language:English
Published: Nature Portfolio 2021-05-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-021-23491-4

Internet

https://doi.org/10.1038/s41467-021-23491-4

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