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Genetic associations with brain cortical thickness in multiple sclerosis.
T Matsushita1, L Madireddy, T Sprenger
1Department of Neurology, University of California, San Francisco, CA, USA.
Genes, Brain, and Behavior
|February 17, 2015
Summary
Researchers identified gene sets linked to cortical thinning in multiple sclerosis (MS) patients. These genetic factors may influence disease progression and disability accumulation in individuals with MS.
Area of Science:
- Neuroscience
- Genetics
- Radiology
Background:
- Multiple sclerosis (MS) involves central nervous system demyelination and neurodegeneration, with gray matter damage increasingly recognized as a key contributor to disability.
- While genetic susceptibility to MS is known, genetic factors influencing disease-specific disability remain largely unidentified.
- Cortical thickness, measurable via MRI, is a significant indicator of neurodegeneration and disability in MS.
Purpose of the Study:
- To investigate genetic factors associated with cortical thinning in multiple sclerosis (MS).
- To identify gene sets correlated with disability progression in MS patients.
- To explore the relationship between genetic variations, cortical thickness, and clinical disability in MS.
Main Methods:
- Cortical thickness analysis using MRI data from 557 MS cases and 75 controls, with replication in a second cohort of 219 cases.
- Genome-wide association studies (GWAS) were performed on available MS cohorts.
- Network-based pathway analysis combining GWAS data with protein interaction networks to identify associated gene sets.
Main Results:
- Nine regions of interest (ROIs) showed significant differences in cortical thickness between MS cases and controls.
- Eight of these ROIs demonstrated a negative correlation with the Expanded Disability Status Scale (EDSS), indicating greater thinning with increased disability.
- Network-based pathway analysis identified gene sets related to glutamate signaling, neural development, and intracellular calcium concentration adjustment as being associated with MS cortical thinning.
Conclusions:
- This study reports novel gene sets associated with cortical thinning in multiple sclerosis.
- These identified gene sets are potentially linked to the accrual of clinical disability in MS patients.
- The findings highlight the role of specific genetic pathways in MS neurodegeneration and disability progression.
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