Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis
Our study revealed a previously unknown association between an intronic variant in <i>SAMD5</i> with intrathecal IgG synthesis and identified a potential causal variant within the IGHC locus. It further provides evidence for possible effects of known MS risk variants on disease severity through their effect on the intrathecal humoral immune response, a prognostic marker for the disease course.
Authors
- Federica Esposito (ORCID: https://orcid.org/0000-0003-2550-0805)
- Hreinn Stefánsson (ORCID: https://orcid.org/0000-0002-9331-6666)
- An Goris (ORCID: https://orcid.org/0000-0002-1276-6682)
- Sara Llufriú (ORCID: https://orcid.org/0000-0003-4273-9121)
- Sandra D’Alfonso (ORCID: https://orcid.org/0000-0002-3983-9925)
- Brigitte Wildemann (ORCID: https://orcid.org/0000-0002-5389-3338)
- Sergio E. Baranzini (ORCID: https://orcid.org/0000-0003-0067-194X)
- Tomas Olsson (ORCID: https://orcid.org/0000-0002-2938-1877)
- Achim Berthele (ORCID: https://orcid.org/0000-0001-9650-6222)
- Steffan D. Bos (ORCID: https://orcid.org/0000-0002-2975-7520)
- Tania Kümpfel (ORCID: https://orcid.org/0000-0001-7509-5268)
- Hayrettin Tumani (ORCID: https://orcid.org/0000-0002-1647-6201)
- Björn Tackenberg
- Bernhard Hemmer (ORCID: https://orcid.org/0000-0001-5985-6784)
- Matthias Knop
- Pernilla Stridh (ORCID: https://orcid.org/0000-0003-4855-0039)
- Anette Oturai
- Mark Mühlau (ORCID: https://orcid.org/0000-0002-9545-2709)
- Maja Jagodic (ORCID: https://orcid.org/0000-0003-0756-889X)
- Kimmo Pääkkönen
- Pablo Villoslada (ORCID: https://orcid.org/0000-0002-8735-6119)
- Verena Grummel
- Sinéad Moylett (ORCID: https://orcid.org/0000-0002-2874-8307)
- Ingileif Jónsdóttir (ORCID: https://orcid.org/0000-0001-8339-150X)
- Joachim Havla (ORCID: https://orcid.org/0000-0002-4386-1340)
- Jan Hillert (ORCID: https://orcid.org/0000-0002-7386-6732)
- Felix Luessi (ORCID: https://orcid.org/0000-0003-4334-4199)
- Hanne F. Harbo (ORCID: https://orcid.org/0000-0002-6047-0122)
- Corinna Trebst
- Martina Flaskamp
- Lucy Peters (ORCID: https://orcid.org/0000-0002-3640-1493)
- Janna Saarela (ORCID: https://orcid.org/0000-0002-0853-6219)
- Ingrid Skelton Kockum (ORCID: https://orcid.org/0000-0002-0867-4726)
- Lars S. Alfredsson (ORCID: https://orcid.org/0000-0003-1688-6697)
- Till F. M. Andlauer (ORCID: https://orcid.org/0000-0002-2917-5889)
- Adil Harroud (ORCID: https://orcid.org/0000-0003-2616-7274)
- Stephen Sawcer (ORCID: https://orcid.org/0000-0001-7685-0974)
- Florian Then Bergh (ORCID: https://orcid.org/0000-0001-8604-8408)
- Christiane Gasperi (ORCID: https://orcid.org/0000-0002-0524-6005)
- Klementy Shchetynsky (ORCID: https://orcid.org/0000-0003-4578-5588)
- Frauke Zipp (ORCID: https://orcid.org/0000-0002-1231-1928)
- Markus C. Kowarik (ORCID: https://orcid.org/0000-0003-1389-5539)
- Antonios Bayas (ORCID: https://orcid.org/0000-0002-7418-9040)
- Filippo Martinelli Boneschi (ORCID: https://orcid.org/0000-0002-9955-1368)
- Paula Uibel
- Albert Pukaj
- Iaroslav Zinevych
- Chris Cotsapas (ORCID: https://orcid.org/0000-0002-7772-5910)
- Bénédicte Dubois (ORCID: https://orcid.org/0000-0003-0604-8702)
- Roland G. Henry
- Laura Wirsching
Institutions
- Roche (Switzerland) (CH)
- Oslo University Hospital (NO)
- Montreal Neurological Institute and Hospital (CA)
- Allen Institute for Brain Science (US)
- Karolinska University Hospital (SE)
- Leipzig University of Applied Sciences (DE)
- Philipps University of Marburg (DE)
- University of Augsburg (DE)
- University of California, San Francisco (US)
- University of Oslo (NO)
- Regeneron (United States) (US)
- Universität Ulm (DE)
- Johannes Gutenberg University Mainz (DE)
- Heidelberg University (DE)
- University Hospital Augsburg (DE)
- TUM Klinikum (DE)
- Yale University (US)
- Medizinische Hochschule Hannover (DE)
- University Medical Center of the Johannes Gutenberg University Mainz (DE)
- Munich Cluster for Systems Neurology (DE)
- Hospital Clínic de Barcelona (ES)
- University Hospital Leipzig (DE)
- Cancer Registry of Norway (NO)
- Institute for Molecular Medicine Finland (FI)
- Hertie Institute for Clinical Brain Research (DE)
- Institute of Neuroimmunology of the Slovak Academy of Sciences (SK)
- Max Planck Institute of Psychiatry (DE)
- Ludwig-Maximilians-Universität München (DE)
- Leipzig University (DE)
Publication Details
- Journal
- Neurology Neuroimmunology & Neuroinflammation
- Published
- 2025-10-15
- DOI
- https://doi.org/10.1212/nxi.0000000000200499
- Primary Topic
- Diabetes and associated disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Deutsche Forschungsgemeinschaft