Nature Communications (May 2021)
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,
- Ana Westenberger
Affiliations
- Björn-Hergen Laabs
- Institute of Medical Biometry and Statistics, University of Lübeck, University Hospital Schleswig-Holstein
- Christine Klein
- Institute of Neurogenetics, University of Lübeck
- Jelena Pozojevic
- Institute of Neurogenetics, University of Lübeck
- Aloysius Domingo
- Institute of Neurogenetics, University of Lübeck
- Norbert Brüggemann
- Institute of Neurogenetics, University of Lübeck
- Karen Grütz
- Institute of Neurogenetics, University of Lübeck
- Raymond L. Rosales
- Department of Neurology, University of Santo Tomas Hospital
- Roland Dominic Jamora
- Department of Neurosciences, College of Medicine - Philippine General Hospital, University of the Philippines
- Gerard Saranza
- Department of Neurosciences, College of Medicine - Philippine General Hospital, University of the Philippines
- Cid Czarina E. Diesta
- Department of Neurosciences, Movement Disorders Clinic, Makati Medical Center
- Michael Wittig
- Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel
- Susen Schaake
- Institute of Neurogenetics, University of Lübeck
- Marija Dulovic-Mahlow
- Institute of Neurogenetics, University of Lübeck
- Jana Quismundo
- Institute of Neurogenetics, University of Lübeck
- Pia Otto
- Institute of Neurogenetics, University of Lübeck
- Patrick Acuna
- The Collaborative Center for X-linked Dystonia Parkinsonism, Department of Neurology, Massachusetts General Hospital
- Criscely Go
- Department of Neurology, Jose Reyes Memorial Medical Center
- Nutan Sharma
- The Collaborative Center for X-linked Dystonia Parkinsonism, Department of Neurology, Massachusetts General Hospital
- Trisha Multhaupt-Buell
- The Collaborative Center for X-linked Dystonia Parkinsonism, Department of Neurology, Massachusetts General Hospital
- Ulrich Müller
- Institut für Humangenetik, Justus-Liebig-Universität
- Henrike Hanssen
- Institute of Neurogenetics, University of Lübeck
- Fabian Kilpert
- Institute of Human Genetics, University Hospital Essen and University of Duisburg-Essen
- Andre Franke
- Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel
- Arndt Rolfs
- CENTOGENE GmbH
- Peter Bauer
- CENTOGENE GmbH
- Valerija Dobričić
- Institute of Neurogenetics, University of Lübeck
- Katja Lohmann
- Institute of Neurogenetics, University of Lübeck
- Laurie J. Ozelius
- The Collaborative Center for X-linked Dystonia Parkinsonism, Department of Neurology, Massachusetts General Hospital
- Frank J. Kaiser
- Section for Functional Genetics, Institute for Human Genetics, University of Lübeck
- Inke R. König
- Institute of Medical Biometry and Statistics, University of Lübeck, University Hospital Schleswig-Holstein
- Ana Westenberger
- Institute of Neurogenetics, University of Lübeck
- DOI
- https://doi.org/10.1038/s41467-021-23491-4
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 8
Abstract
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 years.
