Abstract #3762

Quantitative T1 as a Marker of Myelin Content in Multiple Sclerosis: A Genome-Wide Association Study

Noa Bar Zohar^1,2,3, Alessandro Cagol^1,2,3,4, Mario Ocampo-Pineda^1,2,3, Dimitrios Gkotsoulias^1,2,3, Po-Jui Lu^1,2,3, Tommaso Sirito^3,5, Dana Gindes^3,6, Xinjie Chen^1,2,3, Matthias Weigel^1,2,3,7, Sven Cichon^8,9,10, Jens Kuhle^1,2, Ludwig Kappos^1,2,3, and Cristina Granziera^1,2,3

¹Research Center for Clinical Neuroimmunology and Neuroscience Basel (RC2NB), University Hospital and University of Basel, Basel, Switzerland, ²Department of Neurology, University Hospital Basel, Basel, Switzerland, ³Translational Imaging in Neurology (ThINk), Department of Biomedical Engineering, University of Basel, Basel, Switzerland, ⁴Department of Health Sciences, University of Genova, Genova, Italy, ⁵Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genova, Italy, ⁶Arrow Program for Medical Research Education, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel, ⁷Division of Radiological Physics, Department of Radiology, University Hospital Basel, Basel, Switzerland, ⁸Department of Biomedicine, University of Basel, Basel, Switzerland, ⁹Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland, ¹⁰Institute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany

Synopsis

Keywords: Multiple Sclerosis, Genetics

Motivation: Patients with multiple sclerosis (MS) display variable levels of repair activity within white matter lesions, which can be assessed in vivo using myelin-sensitive MRI. Potential correlates of such repair activity in MS remain poorly understood.

Goal(s): To explore genetic correlates of tissue repair in MS lesions, assessed with quantitative MRI.

Approach: Chronic MS lesions were classified according to myelin content using quantitative T1 maps. GWAS was conducted to identify variants associated with lesion classes.

Results: Genetic analysis provided suggestive evidence for single nucleotide polymorphisms associated with distinct patterns in MS lesion types, suggesting genotype-specific influences on disease pathology.

Impact: This study provides insight into genetic influences on remyelination in MS, highlighting loci that may guide personalized therapeutic approaches. These findings could lead to new research into genetic predictors of repair capacity, potentially advancing targeted treatments for neuroprotection and recovery.

How to access this content:

For one year after publication, abstracts and videos are only open to registrants of this annual meeting. Registrants should use their existing login information. Non-registrant access can be purchased via the ISMRM E-Library.

After one year, current ISMRM & ISMRT members get free access to both the abstracts and videos. Non-members and non-registrants must purchase access via the ISMRM E-Library.

After two years, the meeting proceedings (abstracts) are opened to the public and require no login information. Videos remain behind password for access by members, registrants and E-Library customers.

Click here for more information on becoming a member.