Article
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
Nature communications - 28 May 2021
Laabs Björn-Hergen, Klein Christine, Pozojevic Jelena, Domingo Aloysius, Brüggemann Norbert, Grütz Karen, Rosales Raymond L, Jamora Roland Dominic, Saranza Gerard, Diesta Cid Czarina E, Wittig Michael, Schaake Susen, Dulovic-Mahlow Marija, Quismundo Jana, Otto Pia, Acuna Patrick, Go Criscely, Sharma Nutan, Multhaupt-Buell Trisha, Müller Ulrich, Hanssen Henrike, Kilpert Fabian, Franke Andre, Rolfs Arndt, Bauer Peter, Dobričić Valerija, Lohmann Katja, Ozelius Laurie J, Kaiser Frank J, König Inke R, Westenberger Ana
Abstract excerpt
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 < 5 × 10-8). The lead...
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