Genetic variants influence MS parameters
Already more than 150 genetic variants which increase the risk of contracting MS have been identified. However, the genetic variants appear to have only a slight influence on the course of the disease. The aim of this consortium is to find genetic variants which influence disease course and thus are decisive for whether the MS takes a milder course or whether it quickly leads to disability.
In the consortium „Determinants of MS phenotypes“, genetic variants which have an influence on the specific MRI and CSF parameters in MS and NMO will be identified and validated.
While there are already some indications of genetic influences on the cause of MS, the effects on the disease course have up to now hardly been studied. However, the knowledge could make an early risk stratification for therapy planning possible. Therefore, in the project Gene-MRI patients will be characterized on the basis of magnetic resonance imaging and observed with the aim of identifying the genetic influences on disease course.
The project will be carried out by Prof. Dr. Mark Mühlau (Technical University Munich) in cooperation with Prof. Dr. Bertram Müller-Myhsok (Max Planck Institute of Psychiatry) and Prof. Dr. Carsten Lukas (University of Bochum).
The researchers in the project Gene-CSF plan to identify and replicate the genetic variants that influence MS-relevant CSF parameters, in particular the IgG concentration. For this a genome-wide association study (GWAS) including further CSF parameters (distribution of immune cells, markers of different components of the inflammatory response in CNS as well as neurodegeneration markers) will be carried out. Genetic variants that are associated with the CSF phenotype will be further characterized in order to gain a better understanding of how they influence CSF markers. These will also be investigated in the national cohorts as to their importance for clinical and paraclinical disease activity.
The project will be carried out as a cooperation between the TU Munich (Prof. Dr. Bernhard Hemmer, Dr. Dorothea Buck, Dr. Markus Kowarik) and the Max Planck Institute of Psychiatry (Prof. Dr. Bertram Müller-Myhsok).
The consortium „Determinants of MS phenotypes“ is headed by Prof. Dr. Bernhard Hemmer (Technical University Munich).